Centogene AG - the Rare Disease Company

Personnel

Director: Johannes Numrich, PhD, Lab Director
Email: johannes.numrich@centogene.com
Elizabeth Couchon, MS, CGC, Genetic Counselor
Department of Customer Support, Genetic Counselor
Phone: +49 (0) 381 - 80113 416
Email: Customer.Support@centogene.com
Peter Bauer, MD, Medical Director
Phone: +49 381 203 652 0
Fax: +49 381 203 652 19
Email: peter.bauer@centogene.com
Aida Bertoli-Avella, Genetic Counselor
Phone: +49 381 203 652 121
Fax: +49 381 203 652 19
Email: aida.bertoli-avella@centogene.com

Conditions and tests

4788 conditions/phenotypes with 2818 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria1 test
3 beta-Hydroxysteroid dehydrogenase deficiency9 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency7 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency7 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency8 tests
3-methylglutaconic aciduria type 19 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 31 test
3-methylglutaconic aciduria type 58 tests
3-methylglutaconic aciduria type 88 tests
3-methylglutaconic aciduria type 95 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome9 tests
3-methylglutaconic aciduria, type VIIA1 test
3-methylglutaconic aciduria, type VIIB1 test
3M syndrome 15 tests
3M syndrome 23 tests
3M syndrome 31 test
3MC syndrome 13 tests
3MC syndrome 22 tests
3MC syndrome 32 tests
46,XX ovarian dysgenesis-short stature syndrome2 tests
46,XX sex reversal 41 test
46,xx sex reversal 51 test
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency3 tests
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 11 test
46,XY sex reversal 25 tests
46,XY sex reversal 31 test
46,XY sex reversal 61 test
46,XY sex reversal 73 tests
46,XY sex reversal 93 tests
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency8 tests
Aarskog syndrome4 tests
ABCD syndrome7 tests
Abdominal obesity-metabolic syndrome 32 tests
Abetalipoproteinaemia5 tests
Ablepharon macrostomia syndrome1 test
Abortive cerebellar ataxia9 tests
ABri amyloidosis1 test
Abruzzo-Erickson syndrome1 test
Absence seizure1 test
Acatalasia3 tests
Accelerated tumor formation, susceptibility to1 test
Acetyl-CoA: carboxylase deficiency3 tests
Achondrogenesis type II1 test
Achondrogenesis, type IA4 tests
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 22 tests
Achromatopsia 35 tests
Achromatopsia 42 tests
Achromatopsia 72 tests
Acne inversa, familial, 12 tests
Acne inversa, familial, 22 tests
Acne inversa, familial, 31 test
Acquired hemoglobin H disease12 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome10 tests
Acrocapitofemoral dysplasia4 tests
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau2 tests
Acrodysostosis 1 with or without hormone resistance8 tests
Acrodysostosis 2 with or without hormone resistance5 tests
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2B1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia2 tests
Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
ACTH-independent macronodular adrenal hyperplasia 13 tests
ACTH-independent macronodular adrenal hyperplasia 25 tests
Actin accumulation myopathy6 tests
Action myoclonus-renal failure syndrome6 tests
Acute febrile neutrophilic dermatosis2 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome4 tests
Acute intermittent porphyria6 tests
Acute lymphoid leukemia8 tests
Acute myeloid leukemia7 tests
Acute necrotizing encephalopathy of childhood1 test
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency9 tests
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 18 tests
Adams-Oliver syndrome 25 tests
Adams-Oliver syndrome 32 tests
Adams-Oliver syndrome 44 tests
Adams-Oliver syndrome 53 tests
Adams-Oliver syndrome 64 tests
ADan amyloidosis5 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenosine kinase deficiency5 tests
Adenylosuccinate lyase deficiency7 tests
Adermatoglyphia1 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3 tests
Adrenocortical carcinoma, hereditary8 tests
Adrenoleukodystrophy12 tests
Adult hepatocellular carcinoma3 tests
Adult hypophosphatasia9 tests
Adult polyglucosan body disease10 tests
ADULT syndrome4 tests
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Advanced sleep phase syndrome 13 tests
Agammaglobulinemia 2, autosomal recessive2 tests
Agammaglobulinemia 3, autosomal recessive3 tests
Agammaglobulinemia 4, autosomal recessive3 tests
Agammaglobulinemia 5, autosomal dominant2 tests
Agammaglobulinemia 6, autosomal recessive3 tests
Agammaglobulinemia 7, autosomal recessive1 test
Agammaglobulinemia 8, autosomal dominant1 test
Agammaglobulinemia 8b, autosomal recessive1 test
Age related macular degeneration 12 tests
Age related macular degeneration 121 test
Age related macular degeneration 131 test
Age related macular degeneration 143 tests
Age related macular degeneration 151 test
Age related macular degeneration 21 test
Age related macular degeneration 51 test
Age related macular degeneration 62 tests
Age related macular degeneration 74 tests
Age related macular degeneration 91 test
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1 test
Agenesis of the corpus callosum with peripheral neuropathy5 tests
Aggressive systemic mastocytosis1 test
Agnathia-otocephaly complex1 test
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome4 tests
AICA-ribosiduria4 tests
Aicardi Goutieres syndrome1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 210 tests
Aicardi-Goutieres syndrome 37 tests
Aicardi-Goutieres syndrome 48 tests
Aicardi-Goutieres syndrome 57 tests
Aicardi-Goutieres syndrome 62 tests
Aicardi-Goutieres syndrome 71 test
Alacrima, achalasia, and intellectual disability syndrome6 tests
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation2 tests
Alazami-Yuan syndrome4 tests
Alcohol dependence1 test
Alcohol sensitivity, acute3 tests
ALDH18A1-related de Barsy syndrome1 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease8 tests
ALG1-congenital disorder of glycosylation5 tests
ALG11-congenital disorder of glycosylation7 tests
ALG12-congenital disorder of glycosylation6 tests
ALG2-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation6 tests
ALG6-congenital disorder of glycosylation 1C5 tests
ALG8 congenital disorder of glycosylation4 tests
ALG9 congenital disorder of glycosylation1 test
Alkaptonuria5 tests
Alkuraya-Kucinskas syndrome3 tests
Allan-Herndon-Dudley syndrome8 tests
Alobar holoprosencephaly1 test
Alopecia universalis congenita1 test
Alopecia-intellectual disability syndrome 41 test
Alpha mannosidosis type II6 tests
alpha Thalassemia4 tests
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-1-antitrypsin deficiency5 tests
Alpha-2-plasmin inhibitor deficiency2 tests
Alpha-methylacyl-CoA racemase deficiency5 tests
Alpha-N-acetylgalactosaminidase deficiency type 112 tests
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
Alveolar rhabdomyosarcoma5 tests
Alzheimer disease 26 tests
Alzheimer disease 37 tests
Alzheimer disease 41 test
Alzheimer disease 93 tests
Alzheimer disease type 15 tests
Amelocerebrohypohidrotic syndrome3 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1A1 test
Amelogenesis imperfecta type 1C1 test
Amelogenesis imperfecta type 1E2 tests
Amelogenesis imperfecta type 1H1 test
Aminoacylase 1 deficiency5 tests
Aminoglycoside-induced deafness7 tests
Amish lethal microcephaly9 tests
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis type 19 tests
Amyotrophic lateral sclerosis type 103 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 124 tests
Amyotrophic lateral sclerosis type 153 tests
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 183 tests
Amyotrophic lateral sclerosis type 194 tests
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 202 tests
Amyotrophic lateral sclerosis type 214 tests
Amyotrophic lateral sclerosis type 226 tests
Amyotrophic lateral sclerosis type 231 test
Amyotrophic lateral sclerosis type 46 tests
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 64 tests
Amyotrophic lateral sclerosis type 84 tests
Amyotrophic lateral sclerosis type 93 tests
Amyotrophic lateral sclerosis, susceptibility to, 247 tests
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Anaplastic oligoastrocytoma2 tests
Anauxetic dysplasia 23 tests
Anauxetic dysplasia 32 tests
Andersen Tawil syndrome4 tests
Androgen resistance syndrome3 tests
Anemia, congenital dyserythropoietic, type 1a2 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency10 tests
Aneurysm-osteoarthritis syndrome4 tests
Angelman syndrome6 tests
Angelman syndrome due to imprinting defect in 15q11-q131 test
Angioedema, hereditary, 41 test
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Annular epidermolytic ichthyosis2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome10 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 41 test
Anterior segment dysgenesis 64 tests
Anterior segment dysgenesis 75 tests
Antigen in Cartwright blood group system3 tests
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Anxiety3 tests
Aortic aneurysm, familial thoracic 103 tests
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 84 tests
Aortic aneurysm, familial thoracic 94 tests
Aortic valve disease 17 tests
Aortic valve disease 32 tests
Aplastic anemia13 tests
Apolipoprotein c-III deficiency2 tests
Apparent mineralocorticoid excess2 tests
Arginase deficiency7 tests
Arginine:glycine amidinotransferase deficiency1 test
Argininosuccinate lyase deficiency6 tests
Ariboflavinosis2 tests
Aromatase deficiency6 tests
Aromatase excess syndrome1 test
Arrhinia with choanal atresia and microphthalmia syndrome1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 16 tests
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 134 tests
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 142 tests
Arterial calcification, generalized, of infancy, 15 tests
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome5 tests
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect3 tests
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 54 tests
Arthrogryposis multiplex congenita 65 tests
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development3 tests
Arthrogryposis, distal, IIa 111 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, type 2B24 tests
Arthrogryposis, distal, type 2B31 test
Arthrogryposis, distal, with impaired proprioception and touch4 tests
Arthrogryposis, Perthes disease, and upward gaze palsy1 test
Arthrogryposis, renal dysfunction, and cholestasis 18 tests
Arthrogryposis, renal dysfunction, and cholestasis 27 tests
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Aspartylglucosaminuria6 tests
Asperger syndrome, X-linked, susceptibility to, 13 tests
Asperger syndrome, X-linked, susceptibility to, 21 test
Asphyxiating thoracic dystrophy 24 tests
Asphyxiating thoracic dystrophy 36 tests
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Astrocytoma, anaplastic2 tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5 tests
Ataxia - oculomotor apraxia type 43 tests
Ataxia with oculomotor apraxia type 35 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
Ataxia-pancytopenia syndrome2 tests
Ataxia-telangiectasia syndrome17 tests
Ataxia-telangiectasia-like disorder 110 tests
Ataxia-telangiectasia-like disorder 21 test
Atelosteogenesis type I4 tests
Atelosteogenesis type II7 tests
Atelosteogenesis type III1 test
Atrial conduction disease2 tests
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 182 tests
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 92 tests
Atrial septal defect 24 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 62 tests
Atrial septal defect 72 tests
Atrial septal defect 81 test
Atrial septal defect 91 test
Atrial standstill 12 tests
Atrial standstill 22 tests
Atrichia with papular lesions1 test
Atrioventricular septal defect 51 test
Atrioventricular septal defect, susceptibility to, 25 tests
Attention deficit-hyperactivity disorder 81 test
Atypical glycine encephalopathy3 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly3 tests
Atypical hemolytic-uremic syndrome with I factor anomaly3 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly4 tests
Auditory neuropathy, autosomal dominant 31 test
Auditory neuropathy-optic atrophy syndrome6 tests
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 22 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome4 tests
Autism spectrum disorder due to AUTS2 deficiency2 tests
Autism, susceptibility to, 154 tests
Autism, susceptibility to, 162 tests
Autism, susceptibility to, 172 tests
Autism, susceptibility to, 52 tests
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 23 tests
Autism, susceptibility to, X-linked 37 tests
Autism, susceptibility to, X-linked 42 tests
Autism, susceptibility to, X-linked 51 test
Autoimmune disease, multisystem, infantile-onset, 21 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
Autoimmune lymphoproliferative syndrome type 18 tests
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type 46 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD3 tests
Autoimmune thrombocytopenic purpura2 tests
Autoimmune thyroid disease, susceptibility to, 33 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation with episodic fever and lymphadenopathy1 test
Autoinflammation, immune dysregulation, and eosinophilia1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation5 tests
Autoinflammatory disease, X-linked1 test
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis1 test
Autoinflammatory syndrome, familial, Behcet-like 12 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant aplasia and myelodysplasia2 tests
Autosomal dominant auditory neuropathy 12 tests
Autosomal dominant centronuclear myopathy6 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy6 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W3 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant deafness - onychodystrophy syndrome1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia 18 tests
Autosomal dominant hypocalcemia 24 tests
Autosomal dominant hypophosphatemic rickets7 tests
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
Autosomal dominant limb-girdle muscular dystrophy type 1F3 tests
Autosomal dominant limb-girdle muscular dystrophy type 1G3 tests
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance3 tests
Autosomal dominant nocturnal frontal lobe epilepsy 13 tests
Autosomal dominant nocturnal frontal lobe epilepsy 33 tests
Autosomal dominant nocturnal frontal lobe epilepsy 43 tests
Autosomal dominant nocturnal frontal lobe epilepsy 55 tests
Autosomal dominant non-syndromic intellectual disability3 tests
Autosomal dominant nonsyndromic hearing loss 17 tests
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 138 tests
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 221 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 273 tests
Autosomal dominant nonsyndromic hearing loss 281 test
Autosomal dominant nonsyndromic hearing loss 2A1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 361 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B4 tests
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 4A2 tests
Autosomal dominant nonsyndromic hearing loss 4B1 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 611 tests
Autosomal dominant nonsyndromic hearing loss 646 tests
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant nonsyndromic hearing loss 661 test
Autosomal dominant nonsyndromic hearing loss 671 test
Autosomal dominant nonsyndromic hearing loss 681 test
Autosomal dominant nonsyndromic hearing loss 691 test
Autosomal dominant nonsyndromic hearing loss 701 test
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant Parkinson disease 44 tests
Autosomal dominant Parkinson disease 83 tests
Autosomal dominant popliteal pterygium syndrome3 tests
Autosomal dominant pseudohypoaldosteronism type 16 tests
Autosomal dominant Robinow syndrome 16 tests
Autosomal dominant Robinow syndrome 34 tests
Autosomal dominant sensory ataxia 11 test
Autosomal dominant sideroblastic anemia5 tests
Autosomal dominant slowed nerve conduction velocity3 tests
Autosomal dominant striatal neurodegeneration type 11 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal dominant wooly hair1 test
Autosomal recessive Alport syndrome6 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency8 tests
Autosomal recessive ataxia, Beauce type10 tests
Autosomal recessive axonal neuropathy with neuromyotonia4 tests
Autosomal recessive bestrophinopathy1 test
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 14 tests
Autosomal recessive congenital ichthyosis 103 tests
Autosomal recessive congenital ichthyosis 112 tests
Autosomal recessive congenital ichthyosis 23 tests
Autosomal recessive congenital ichthyosis 33 tests
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B4 tests
Autosomal recessive congenital ichthyosis 53 tests
Autosomal recessive congenital ichthyosis 63 tests
Autosomal recessive congenital ichthyosis 83 tests
Autosomal recessive congenital ichthyosis 93 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 2C3 tests
Autosomal recessive cutis laxa type 2D5 tests
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 23 tests
Autosomal recessive DOPA responsive dystonia5 tests
Autosomal recessive early-onset Parkinson disease 233 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 74 tests
Autosomal recessive hypophosphatemic bone disease5 tests
Autosomal recessive inherited pseudoxanthoma elasticum10 tests
Autosomal recessive juvenile Parkinson disease 22 tests
Autosomal recessive Kenny-Caffey syndrome5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I8 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2R13 tests
Autosomal recessive limb-girdle muscular dystrophy type 2T6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y3 tests
Autosomal recessive limb-girdle muscular dystrophy type R183 tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency3 tests
Autosomal recessive multiple pterygium syndrome4 tests
Autosomal recessive nonsyndromic hearing loss 1011 test
Autosomal recessive nonsyndromic hearing loss 1021 test
Autosomal recessive nonsyndromic hearing loss 1031 test
Autosomal recessive nonsyndromic hearing loss 122 tests
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A5 tests
Autosomal recessive nonsyndromic hearing loss 18B1 test
Autosomal recessive nonsyndromic hearing loss 1A8 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 29 tests
Autosomal recessive nonsyndromic hearing loss 214 tests
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 261 test
Autosomal recessive nonsyndromic hearing loss 283 tests
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 301 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 321 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 393 tests
Autosomal recessive nonsyndromic hearing loss 46 tests
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 441 test
Autosomal recessive nonsyndromic hearing loss 485 tests
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 681 test
Autosomal recessive nonsyndromic hearing loss 72 tests
Autosomal recessive nonsyndromic hearing loss 701 test
Autosomal recessive nonsyndromic hearing loss 745 tests
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 773 tests
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 881 test
Autosomal recessive nonsyndromic hearing loss 895 tests
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive nonsyndromic hearing loss 931 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive nonsyndromic hearing loss 981 test
Autosomal recessive omodysplasia6 tests
Autosomal recessive optic atrophy, OPA7 type7 tests
Autosomal recessive osteopetrosis 17 tests
Autosomal recessive osteopetrosis 24 tests
Autosomal recessive osteopetrosis 54 tests
Autosomal recessive osteopetrosis 62 tests
Autosomal recessive osteopetrosis 85 tests
Autosomal recessive Parkinson disease 141 test
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2 tests
Autosomal recessive proximal renal tubular acidosis5 tests
Autosomal recessive pseudohypoaldosteronism type 13 tests
Autosomal recessive Robinow syndrome8 tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency4 tests
Autosomal recessive spastic paraplegia type 765 tests
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 104 tests
Autosomal recessive spinocerebellar ataxia 127 tests
Autosomal recessive spinocerebellar ataxia 134 tests
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 154 tests
Autosomal recessive spinocerebellar ataxia 163 tests
Autosomal recessive spinocerebellar ataxia 174 tests
Autosomal recessive spinocerebellar ataxia 185 tests
Autosomal recessive spinocerebellar ataxia 25 tests
Autosomal recessive spinocerebellar ataxia 204 tests
Autosomal recessive spinocerebellar ataxia 79 tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type3 tests
Autosomal systemic lupus erythematosus type 162 tests
Avascular necrosis of femoral head, primary, 11 test
Avascular necrosis of femoral head, primary, 21 test
Axenfeld-Rieger syndrome type 16 tests
Axenfeld-Rieger syndrome type 36 tests
Ayme-Gripp syndrome3 tests
Azorean disease3 tests
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1 test
B4GALT1-congenital disorder of glycosylation5 tests
Bailey-Bloch congenital myopathy3 tests
Bamforth-Lazarus syndrome2 tests
Band heterotopia of brain3 tests
BAP1-related tumor predisposition syndrome4 tests
Baraitser-Winter syndrome 15 tests
Baraitser-winter syndrome 24 tests
Barber-Say syndrome1 test
Bardet-Biedl syndrome 113 tests
Bardet-Biedl syndrome 1011 tests
Bardet-Biedl syndrome 1111 tests
Bardet-Biedl syndrome 1211 tests
Bardet-Biedl syndrome 139 tests
Bardet-Biedl syndrome 146 tests
Bardet-Biedl syndrome 155 tests
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 178 tests
Bardet-Biedl syndrome 198 tests
Bardet-Biedl syndrome 23 tests
Bardet-Biedl syndrome 201 test
Bardet-biedl syndrome 216 tests
Bardet-Biedl syndrome 311 tests
Bardet-Biedl syndrome 412 tests
Bardet-Biedl syndrome 510 tests
Bardet-Biedl syndrome 613 tests
Bardet-Biedl syndrome 711 tests
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 911 tests
Barrett esophagus3 tests
Bartsocas-Papas syndrome 11 test
Bartter disease type 14 tests
Bartter disease type 24 tests
Bartter disease type 4A7 tests
Bartter disease type 4B4 tests
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 78 tests
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 52 tests
Basal ganglia calcification, idiopathic, 63 tests
Basal ganglia calcification, idiopathic, 7, autosomal recessive3 tests
Basal ganglia calcification, idiopathic, 8, autosomal recessive2 tests
Basan syndrome1 test
BDV syndrome1 test
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy7 tests
Beckwith-Wiedemann syndrome9 tests
Benign concentric annular macular dystrophy2 tests
Benign familial hematuria6 tests
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 14 tests
Benign recurrent intrahepatic cholestasis type 21 test
Bent bone dysplasia syndrome 11 test
BENTA disease4 tests
Bernard Soulier syndrome5 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Beta-D-mannosidosis12 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency8 tests
Beta-thalassemia HBB/LCRB2 tests
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A7 tests
Bethlem myopathy 25 tests
Bietti crystalline corneoretinal dystrophy2 tests
Bifunctional peroxisomal enzyme deficiency9 tests
Bilateral frontoparietal polymicrogyria7 tests
Bilateral parasagittal parieto-occipital polymicrogyria7 tests
Bile acid conjugation defect 12 tests
Bilirubin, serum level of, quantitative trait locus 17 tests
Biotin-responsive basal ganglia disease9 tests
Biotinidase deficiency10 tests
Birk-Barel syndrome3 tests
Birt-Hogg-Dube syndrome4 tests
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Bleeding disorder, platelet-type, 213 tests
Bleeding disorder, platelet-type, 244 tests
Blepharocheilodontic syndrome 11 test
Blepharocheilodontic syndrome 22 tests
Blepharophimosis - intellectual disability syndrome, MKB type2 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Blepharophimosis-impaired intellectual development syndrome4 tests
BLOOD GROUP, EMM SYSTEM1 test
Blood group, Gerbich system2 tests
Blood group, I system2 tests
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--LUTHERAN INHIBITOR1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
Bloom syndrome7 tests
BNAR syndrome5 tests
Body mass index quantitative trait locus 125 tests
Body mass index quantitative trait locus 181 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 191 test
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202 tests
Body mass index quantitative trait locus 42 tests
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
Bohring-Opitz syndrome1 test
Bone marrow failure syndrome 33 tests
Bone marrow failure syndrome 42 tests
Bone marrow failure syndrome 58 tests
Bone marrow failure syndrome 61 test
Bone mineral density quantitative trait locus 182 tests
Bone osteosarcoma11 tests
Boomerang dysplasia1 test
Borjeson-Forssman-Lehmann syndrome9 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome6 tests
Bothnia retinal dystrophy6 tests
Brachydactyly type A1A1 test
Brachydactyly type A1C1 test
Brachydactyly type A1D5 tests
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type E13 tests
Brachydactyly type E24 tests
Brachyolmia-amelogenesis imperfecta syndrome2 tests
Brachyrachia (short spine dysplasia)1 test
Bradyopsia3 tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis2 tests
Brain small vessel disease 1 with or without ocular anomalies14 tests
Brain small vessel disease 34 tests
Brain-lung-thyroid syndrome3 tests
Branched-chain keto acid dehydrogenase kinase deficiency5 tests
Branchiogenic deafness syndrome1 test
Branchiooculofacial syndrome6 tests
Branchiootic syndrome 16 tests
Branchiootic syndrome 34 tests
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 24 tests
Breast-ovarian cancer, familial, susceptibility to, 112 tests
Breast-ovarian cancer, familial, susceptibility to, 212 tests
Breast-ovarian cancer, familial, susceptibility to, 37 tests
Breast-ovarian cancer, familial, susceptibility to, 44 tests
Breasts and/or nipples, aplasia or hypoplasia of, 21 test
Brittle cornea syndrome 13 tests
Brittle cornea syndrome 23 tests
Brody myopathy3 tests
Bronchiectasis with or without elevated sweat chloride 13 tests
Bronchiectasis with or without elevated sweat chloride 24 tests
Bronchiectasis with or without elevated sweat chloride 34 tests
Brooke-Spiegler syndrome3 tests
Brown-Vialetto-van Laere syndrome 18 tests
Brown-Vialetto-van Laere syndrome 28 tests
Bruck syndrome 18 tests
Bruck syndrome 27 tests
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 22 tests
Brugada syndrome 31 test
Brugada syndrome 45 tests
Brugada syndrome 64 tests
Brugada syndrome 72 tests
Brugada syndrome 81 test
Brugada syndrome 91 test
Brunner syndrome4 tests
Bryant-Li-Bhoj neurodevelopmental syndrome 11 test
Budd-Chiari syndrome3 tests
Bullous ichthyosiform erythroderma2 tests
Burkitt lymphoma1 test
C syndrome3 tests
C1 inhibitor deficiency2 tests
C1Q deficiency4 tests
C3 glomerulonephritis1 test
Café-au-lait macules with pulmonary stenosis2 tests
Calvarial doughnut lesions-bone fragility syndrome2 tests
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia7 tests
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma3 tests
Candidiasis, familial, 92 tests
Capillary infantile hemangioma2 tests
Capillary malformation-arteriovenous malformation 14 tests
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of pancreas8 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome5 tests
Cardiac arrhythmia, ankyrin-B-related4 tests
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5 tests
Cardiac valvular dysplasia, X-linked1 test
Cardiac, facial, and digital anomalies with developmental delay3 tests
Cardiac-urogenital syndrome2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 110 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 29 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 34 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 45 tests
Cardiofaciocutaneous syndrome 23 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 47 tests
Cardiomyopathy, dilated, 2E1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis4 tests
Cardiomyopathy, familial hypertrophic 271 test
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome7 tests
Cardiospondylocarpofacial syndrome1 test
Carney complex - trismus - pseudocamptodactyly syndrome4 tests
Carney complex, type 12 tests
Carney-Stratakis syndrome5 tests
Carnitine acylcarnitine translocase deficiency7 tests
Carnitine palmitoyl transferase 1A deficiency8 tests
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form10 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carotid intimal medial thickness 11 test
Carpal tunnel syndrome 11 test
Carpal tunnel syndrome 21 test
Cataract 1 multiple types2 tests
Cataract 10 multiple types2 tests
Cataract 11 multiple types2 tests
Cataract 12 multiple types2 tests
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types2 tests
Cataract 15 multiple types2 tests
Cataract 16 multiple types1 test
Cataract 17 multiple types2 tests
Cataract 182 tests
Cataract 19 multiple types3 tests
Cataract 2, multiple types2 tests
Cataract 20 multiple types2 tests
Cataract 21 multiple types1 test
Cataract 22 multiple types2 tests
Cataract 232 tests
Cataract 3 multiple types1 test
Cataract 302 tests
Cataract 31 multiple types2 tests
Cataract 331 test
Cataract 362 tests
Cataract 386 tests
Cataract 39 multiple types2 tests
Cataract 4 multiple types2 tests
Cataract 401 test
Cataract 411 test
Cataract 441 test
Cataract 46 juvenile-onset1 test
Cataract 5 multiple types2 tests
Cataract 6 multiple types2 tests
Cataract 9 multiple types2 tests
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome7 tests
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 32 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 52 tests
Catel-Manzke syndrome2 tests
Cayman type cerebellar ataxia4 tests
CBL-related disorder3 tests
CCDC115-CDG3 tests
CEDNIK syndrome8 tests
Celiac disease, susceptibility to, 31 test
Celiac disease, susceptibility to, 42 tests
Cenani-Lenz syndactyly syndrome1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease14 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 16 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 26 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 35 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 45 tests
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome7 tests
Cerebellar ataxia-hypogonadism syndrome8 tests
Cerebellar atrophy with seizures and variable developmental delay2 tests
Cerebellar atrophy, developmental delay, and seizures4 tests
Cerebellar dysfunction with variable cognitive and behavioral abnormalities6 tests
Cerebral amyloid angiopathy, APP-related6 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 12 tests
Cerebral cavernous malformation4 tests
Cerebral cavernous malformation 23 tests
Cerebral cavernous malformation 35 tests
Cerebral cavernous malformation 41 test
Cerebral folate transport deficiency5 tests
Cerebral palsy, spastic quadriplegic, 23 tests
Cerebrooculofacioskeletal syndrome 17 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 31 test
Cerebrooculofacioskeletal syndrome 44 tests
Cerebroretinal microangiopathy with calcifications and cysts 110 tests
Cerebroretinal microangiopathy with calcifications and cysts 22 tests
Cernunnos-XLF deficiency7 tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)9 tests
Ceroid lipofuscinosis, neuronal, 6A9 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)7 tests
Cervical cancer2 tests
CFHR5 deficiency2 tests
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Char syndrome3 tests
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L3 tests
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P3 tests
Charcot-Marie-Tooth disease axonal type 2Q4 tests
Charcot-Marie-Tooth disease axonal type 2S4 tests
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X10 tests
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E6 tests
Charcot-Marie-Tooth disease dominant intermediate F3 tests
Charcot-Marie-Tooth disease recessive intermediate A5 tests
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease recessive intermediate D6 tests
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C4 tests
Charcot-Marie-Tooth disease type 1D5 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A29 tests
Charcot-Marie-Tooth disease type 2B3 tests
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2B27 tests
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R3 tests
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B13 tests
Charcot-Marie-Tooth disease type 4B24 tests
Charcot-Marie-Tooth disease type 4B34 tests
Charcot-Marie-Tooth disease type 4C3 tests
Charcot-Marie-Tooth disease type 4D3 tests
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F3 tests
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4H3 tests
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K3 tests
Charcot-Marie-Tooth disease X-linked dominant 18 tests
Charcot-Marie-Tooth disease X-linked dominant 64 tests
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-marie-tooth disease, axonal, type 2DD3 tests
Charcot-Marie-Tooth disease, axonal, type 2EE1 test
Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1I10 tests
Charcot-Marie-Tooth disease, type IA7 tests
CHARGE association5 tests
Charlevoix-Saguenay spastic ataxia7 tests
Chilblain lupus 11 test
Chilblain lupus 21 test
Child syndrome8 tests
Childhood apraxia of speech3 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency8 tests
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 22 tests
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder4 tests
CHIME syndrome3 tests
Chitayat syndrome1 test
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Cholestanol storage disease13 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 35 tests
Cholestasis, progressive familial intrahepatic, 121 test
Cholestasis, progressive familial intrahepatic, 45 tests
Cholestasis, progressive familial intrahepatic, 53 tests
Cholestasis-pigmentary retinopathy-cleft palate syndrome9 tests
Chondrocalcinosis 22 tests
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant6 tests
Chondrosarcoma2 tests
Chorea-acanthocytosis4 tests
Choroid plexus papilloma8 tests
Choroidal dystrophy, central areolar 21 test
Choroidal dystrophy, central areolar, 15 tests
Choroideremia4 tests
Christianson syndrome9 tests
Chromosome 15q13.3 microdeletion syndrome2 tests
Chromosome 1p32-p31 deletion syndrome3 tests
Chromosome 2p16.3 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome5 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive3 tests
Chronic myelomonocytic leukemia1 test
Chudley-McCullough syndrome3 tests
Chuvash polycythemia6 tests
Chédiak-Higashi syndrome13 tests
Ciliary dyskinesia, primary, 36, X-linked3 tests
Ciliary dyskinesia, primary, 373 tests
Ciliary dyskinesia, primary, 384 tests
Ciliary dyskinesia, primary, 393 tests
Ciliary dyskinesia, primary, 404 tests
Ciliary dyskinesia, primary, 421 test
Ciliary dyskinesia, primary, 432 tests
Ciliary dyskinesia, primary, 445 tests
Ciliary dyskinesia, primary, 453 tests
Cirrhosis, familial3 tests
Citrullinemia type I6 tests
Citrullinemia, type II, adult-onset10 tests
CK syndrome1 test
CLAPO syndrome1 test
Clark-Baraitser syndrome3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency6 tests
Classic dopamine transporter deficiency syndrome5 tests
Classic homocystinuria10 tests
Cleft lip/palate-ectodermal dysplasia syndrome5 tests
Cleft palate with or without ankyloglossia, X-linked2 tests
Cleidocranial dysostosis3 tests
CLOVES syndrome1 test
Clubfoot2 tests
COACH syndrome 11 test
COACH syndrome 211 tests
Cobalamin C disease10 tests
Cobblestone lissencephaly without muscular or ocular involvement6 tests
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
CODAS syndrome3 tests
Coenzyme Q10 deficiency, primary, 14 tests
Coenzyme Q10 deficiency, primary, 39 tests
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 13 tests
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 63 tests
Coffin-Siris syndrome 74 tests
Coffin-Siris syndrome 84 tests
COG1 congenital disorder of glycosylation6 tests
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation6 tests
COG6-ongenital disorder of glycosylation6 tests
COG7 congenital disorder of glycosylation6 tests
COG8-congenital disorder of glycosylation5 tests
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome5 tests
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome8 tests
Colchicine resistance1 test
Cold-induced sweating syndrome 12 tests
Cole-Carpenter syndrome 15 tests
Cole-Carpenter syndrome 23 tests
Coloboma of optic nerve1 test
Coloboma, ocular, autosomal dominant1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness7 tests
Colobomatous microphthalmia-rhizomelic dysplasia syndrome3 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome3 tests
Colorectal cancer23 tests
Colorectal cancer, hereditary nonpolyposis, type 29 tests
Colorectal cancer, hereditary nonpolyposis, type 64 tests
Colorectal cancer, hereditary nonpolyposis, type 74 tests
Colorectal cancer, susceptibility to, 13 tests
Colorectal cancer, susceptibility to, 104 tests
Colorectal cancer, susceptibility to, 125 tests
Colton Blood group system2 tests
Combined deficiency of sialidase AND beta galactosidase6 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to CD3gamma deficiency3 tests
Combined immunodeficiency due to DOCK8 deficiency7 tests
Combined immunodeficiency due to GINS1 deficiency2 tests
Combined immunodeficiency due to LRBA deficiency6 tests
Combined immunodeficiency due to MALT1 deficiency3 tests
Combined immunodeficiency due to moesin deficiency1 test
Combined immunodeficiency due to partial RAG1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency7 tests
Combined immunodeficiency due to STK4 deficiency2 tests
Combined immunodeficiency due to ZAP70 deficiency3 tests
Combined immunodeficiency with faciooculoskeletal anomalies1 test
Combined immunodeficiency with skin granulomas5 tests
Combined immunodeficiency, X-linked6 tests
Combined malonic and methylmalonic acidemia6 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 118 tests
Combined oxidative phosphorylation defect type 139 tests
Combined oxidative phosphorylation defect type 141 test
Combined oxidative phosphorylation defect type 151 test
Combined oxidative phosphorylation defect type 177 tests
Combined oxidative phosphorylation defect type 25 tests
Combined oxidative phosphorylation defect type 206 tests
Combined oxidative phosphorylation defect type 214 tests
Combined oxidative phosphorylation defect type 237 tests
Combined oxidative phosphorylation defect type 249 tests
Combined oxidative phosphorylation defect type 257 tests
Combined oxidative phosphorylation defect type 262 tests
Combined oxidative phosphorylation defect type 275 tests
Combined oxidative phosphorylation defect type 305 tests
Combined oxidative phosphorylation defect type 47 tests
Combined oxidative phosphorylation defect type 76 tests
Combined oxidative phosphorylation defect type 81 test
Combined oxidative phosphorylation defect type 96 tests
Combined oxidative phosphorylation deficiency 223 tests
Combined oxidative phosphorylation deficiency 286 tests
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 332 tests
Combined oxidative phosphorylation deficiency 355 tests
Combined oxidative phosphorylation deficiency 362 tests
Combined oxidative phosphorylation deficiency 397 tests
Combined oxidative phosphorylation deficiency 448 tests
Combined pituitary hormone deficiencies, genetic form1 test
Combined PSAP deficiency1 test
Complement component 2 deficiency1 test
Complement component 3 deficiency1 test
Complement component 5 deficiency1 test
Complement component 6 deficiency2 tests
Complement component 7 deficiency2 tests
Complement component 9 deficiency2 tests
Complement component C1s deficiency1 test
Complement factor b deficiency1 test
Complete trisomy 21 syndrome5 tests
Complex cortical dysplasia with other brain malformations 24 tests
Complex cortical dysplasia with other brain malformations 33 tests
Complex cortical dysplasia with other brain malformations 43 tests
Complex cortical dysplasia with other brain malformations 54 tests
Complex cortical dysplasia with other brain malformations 62 tests
Complex cortical dysplasia with other brain malformations 74 tests
Complex lethal osteochondrodysplasia1 test
Compton-North congenital myopathy2 tests
Cone dystrophy 32 tests
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response2 tests
Cone monochromatism1 test
Cone-rod dystrophy 102 tests
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 182 tests
Cone-rod dystrophy 192 tests
Cone-rod dystrophy 25 tests
Cone-rod dystrophy 202 tests
Cone-rod dystrophy 212 tests
Cone-rod dystrophy 31 test
Cone-rod dystrophy 53 tests
Cone-rod dystrophy 61 test
Cone-rod dystrophy 74 tests
Cone-rod dystrophy 92 tests
Cone-rod dystrophy and hearing loss 11 test
Cone-rod synaptic disorder, congenital nonprogressive5 tests
Congenital absence of salivary gland1 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency5 tests
Congenital afibrinogenemia6 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital anomalies of kidney and urinary tract 17 tests
Congenital anomalies of kidney and urinary tract 23 tests
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay4 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital bile acid synthesis defect 15 tests
Congenital bile acid synthesis defect 24 tests
Congenital bile acid synthesis defect 39 tests
Congenital bile acid synthesis defect 55 tests
Congenital brain dysgenesis due to glutamine synthetase deficiency4 tests
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome6 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome3 tests
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital diarrhea 5 with tufting enteropathy7 tests
Congenital diarrhea 62 tests
Congenital disorder of deglycosylation 17 tests
Congenital disorder of glycosylation type 1E6 tests
Congenital disorder of glycosylation type Ir4 tests
Congenital disorder of glycosylation with defective fucosylation 13 tests
Congenital disorder of glycosylation, type IAA2 tests
Congenital disorder of glycosylation, type ICC1 test
Congenital disorder of glycosylation, type IIr4 tests
Congenital disorder of glycosylation, type IIw1 test
Congenital disorder of glycosylation, type Iw, autosomal dominant1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital factor VII deficiency3 tests
Congenital fibrosis of extraocular muscles type 12 tests
Congenital generalized lipodystrophy type 13 tests
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 37 tests
Congenital generalized lipodystrophy type 45 tests
Congenital glucose-galactose malabsorption2 tests
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1 test
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 43 tests
Congenital heart defects, multiple types, 52 tests
Congenital heart defects, multiple types, 62 tests
Congenital heart defects, multiple types, 8, with or without heterotaxy2 tests
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital hyperammonemia, type I1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies5 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital isolated adrenocorticotropic hormone deficiency2 tests
Congenital lactase deficiency4 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type9 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency7 tests
Congenital macrodactylia1 test
Congenital malabsorptive diarrhea 46 tests
Congenital mesoblastic nephroma1 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4 tests
Congenital microvillous atrophy2 tests
Congenital multicore myopathy with external ophthalmoplegia5 tests
Congenital muscular dystrophy due to integrin alpha-7 deficiency5 tests
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy7 tests
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4 tests
Congenital muscular hypertrophy-cerebral syndrome6 tests
Congenital myasthenic syndrome 106 tests
Congenital myasthenic syndrome 117 tests
Congenital myasthenic syndrome 128 tests
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 146 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 183 tests
Congenital myasthenic syndrome 193 tests
Congenital myasthenic syndrome 1A1 test
Congenital myasthenic syndrome 204 tests
Congenital myasthenic syndrome 214 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C6 tests
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C5 tests
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B7 tests
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 56 tests
Congenital myasthenic syndrome 74 tests
Congenital myasthenic syndrome 84 tests
Congenital myasthenic syndrome 91 test
Congenital myopathy 235 tests
Congenital myopathy 4B, autosomal recessive4 tests
Congenital myopathy with fiber type disproportion6 tests
Congenital myopathy with internal nuclei and atypical cores4 tests
Congenital myopathy with reduced type 2 muscle fibers3 tests
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form4 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome3 tests
Congenital nongoitrous hypothryoidism 65 tests
Congenital nonprogressive myopathy with Moebius and Robin sequences3 tests
Congenital plasminogen activator inhibitor type 1 deficiency2 tests
Congenital prothrombin deficiency1 test
Congenital reticular ichthyosiform erythroderma1 test
Congenital secretory diarrhea, chloride type4 tests
Congenital secretory sodium diarrhea 34 tests
Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome8 tests
Congenital stationary night blindness 1C3 tests
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 17 tests
Congenital stationary night blindness autosomal dominant 22 tests
Congenital vertical talus3 tests
Conotruncal heart malformations9 tests
Constitutional megaloblastic anemia with severe neurologic disease2 tests
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
COPD, severe early onset3 tests
Corneal dystrophy, Fuchs endothelial, 32 tests
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy-perceptive deafness syndrome2 tests
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Cornelia de Lange syndrome 18 tests
Cornelia de Lange syndrome 36 tests
Cornelia de Lange syndrome 44 tests
Cornelia de Lange syndrome 54 tests
Coronary heart disease, susceptibility to, 11 test
Coronary heart disease, susceptibility to, 61 test
Coronary heart disease, susceptibility to, 71 test
Corpus callosum agenesis-abnormal genitalia syndrome7 tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome3 tests
Cortical dysplasia, complex, with other brain malformations 94 tests
Cortical dysplasia-focal epilepsy syndrome1 test
Corticosterone 18-monooxygenase deficiency6 tests
Corticosterone methyloxidase type 2 deficiency1 test
Cortisone reductase deficiency 12 tests
Cortisone reductase deficiency 24 tests
Costello syndrome13 tests
Cowden syndrome 17 tests
Cowden syndrome 53 tests
Cowden syndrome 63 tests
Cowden syndrome 74 tests
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 13 tests
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 15 tests
Craniofacial dysplasia - osteopenia syndrome2 tests
Craniofacial-deafness-hand syndrome1 test
Craniofrontonasal syndrome3 tests
Craniometaphyseal dysplasia, autosomal dominant6 tests
Craniosynostosis 22 tests
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 64 tests
Craniosynostosis and dental anomalies2 tests
Creatine transporter deficiency7 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis1 test
Cryptorchidism1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
Curly hair, ankyloblepharon, nail dysplasia syndrome3 tests
Currarino triad1 test
Curry-Hall syndrome7 tests
Curry-Jones syndrome1 test
Cutaneous mastocytosis9 tests
Cutaneous porphyria5 tests
Cutis laxa with osteodystrophy1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 27 tests
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B7 tests
Cutis laxa, X-linked1 test
Cyclical neutropenia1 test
CYP2C19-related poor drug metabolism1 test
Cystathioninuria2 tests
Cystic fibrosis11 tests
Cystic leukoencephalopathy without megalencephaly5 tests
Cystinuria7 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder2 tests
D,L-2-hydroxyglutaric aciduria5 tests
D-2-hydroxyglutaric aciduria 16 tests
D-2-hydroxyglutaric aciduria 22 tests
D-Glyceric aciduria4 tests
Danon disease13 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
DE SANCTIS-CACCHIONE SYNDROME1 test
Deafness dystonia syndrome8 tests
Deafness with labyrinthine aplasia, microtia, and microdontia1 test
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness, X-linked 51 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome6 tests
Deafness-lymphedema-leukemia syndrome4 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase6 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of acetyl-CoA acetyltransferase8 tests
Deficiency of alpha-mannosidase7 tests
Deficiency of aromatic-L-amino-acid decarboxylase6 tests
Deficiency of beta-ureidopropionase4 tests
Deficiency of butyryl-CoA dehydrogenase7 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of cytochrome-b5 reductase4 tests
Deficiency of ferroxidase8 tests
Deficiency of galactokinase6 tests
Deficiency of guanidinoacetate methyltransferase9 tests
Deficiency of hyaluronoglucosaminidase4 tests
Deficiency of hydroxymethylglutaryl-CoA lyase10 tests
Deficiency of iodide peroxidase4 tests
Deficiency of isobutyryl-CoA dehydrogenase5 tests
Deficiency of malonyl-CoA decarboxylase4 tests
Deficiency of phosphoserine phosphatase3 tests
Deficiency of ribose-5-phosphate isomerase5 tests
Deficiency of steroid 11-beta-monooxygenase9 tests
Deficiency of steroid 17-alpha-monooxygenase7 tests
Deficiency of transaldolase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase9 tests
DEGCAGS syndrome3 tests
Dehydrated hereditary stomatocytosis 22 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
Dejerine-Sottas disease5 tests
Delta-beta-thalassemia2 tests
Dent disease type 11 test
Dent disease type 211 tests
Dentatorubral-pallidoluysian atrophy2 tests
Denticles1 test
Dentinogenesis imperfecta type 23 tests
Dentinogenesis imperfecta type 31 test
Dermatofibrosis lenticularis disseminata2 tests
DeSanto-Shinawi syndrome due to WAC point mutation3 tests
Desbuquois dysplasia 11 test
Desmin-related myofibrillar myopathy1 test
Desmoid disease, hereditary6 tests
Desmosterolosis7 tests
Developmental and epileptic encephalopathy 1014 tests
Developmental and epileptic encephalopathy 6B2 tests
Developmental and epileptic encephalopathy 896 tests
Developmental and epileptic encephalopathy 945 tests
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 124 tests
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 183 tests
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 25 tests
Developmental and epileptic encephalopathy, 212 tests
Developmental and epileptic encephalopathy, 234 tests
Developmental and epileptic encephalopathy, 244 tests
Developmental and epileptic encephalopathy, 253 tests
Developmental and epileptic encephalopathy, 264 tests
Developmental and epileptic encephalopathy, 274 tests
Developmental and epileptic encephalopathy, 282 tests
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 35 tests
Developmental and epileptic encephalopathy, 303 tests
Developmental and epileptic encephalopathy, 313 tests
Developmental and epileptic encephalopathy, 325 tests
Developmental and epileptic encephalopathy, 335 tests
Developmental and epileptic encephalopathy, 344 tests
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 366 tests
Developmental and epileptic encephalopathy, 372 tests
Developmental and epileptic encephalopathy, 383 tests
Developmental and epileptic encephalopathy, 397 tests
Developmental and epileptic encephalopathy, 46 tests
Developmental and epileptic encephalopathy, 403 tests
Developmental and epileptic encephalopathy, 413 tests
Developmental and epileptic encephalopathy, 428 tests
Developmental and epileptic encephalopathy, 434 tests
Developmental and epileptic encephalopathy, 443 tests
Developmental and epileptic encephalopathy, 453 tests
Developmental and epileptic encephalopathy, 462 tests
Developmental and epileptic encephalopathy, 473 tests
Developmental and epileptic encephalopathy, 482 tests
Developmental and epileptic encephalopathy, 493 tests
Developmental and epileptic encephalopathy, 54 tests
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 513 tests
Developmental and epileptic encephalopathy, 523 tests
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 544 tests
Developmental and epileptic encephalopathy, 553 tests
Developmental and epileptic encephalopathy, 563 tests
Developmental and epileptic encephalopathy, 573 tests
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 593 tests
Developmental and epileptic encephalopathy, 603 tests
Developmental and epileptic encephalopathy, 613 tests
Developmental and epileptic encephalopathy, 623 tests
Developmental and epileptic encephalopathy, 633 tests
Developmental and epileptic encephalopathy, 643 tests
Developmental and epileptic encephalopathy, 653 tests
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 673 tests
Developmental and epileptic encephalopathy, 683 tests
Developmental and epileptic encephalopathy, 694 tests
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 703 tests
Developmental and epileptic encephalopathy, 722 tests
Developmental and epileptic encephalopathy, 733 tests
Developmental and epileptic encephalopathy, 741 test
Developmental and epileptic encephalopathy, 756 tests
Developmental and epileptic encephalopathy, 761 test
Developmental and epileptic encephalopathy, 773 tests
Developmental and epileptic encephalopathy, 783 tests
Developmental and epileptic encephalopathy, 793 tests
Developmental and epileptic encephalopathy, 85 tests
Developmental and epileptic encephalopathy, 803 tests
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 823 tests
Developmental and epileptic encephalopathy, 833 tests
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 95 tests
Developmental delay and seizures with or without movement abnormalities1 test
Developmental delay with autism spectrum disorder and gait instability3 tests
Developmental delay with or without dysmorphic facies and autism1 test
Developmental delay with or without intellectual impairment or behavioral abnormalities3 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities3 tests
Developmental delay, hypotonia, and impaired language1 test
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, autosomal3 tests
Diabetes insipidus, nephrogenic, X-linked5 tests
Diabetes mellitus type 11 test
Diabetes mellitus, ketosis-prone1 test
Diabetes mellitus, permanent neonatal 22 tests
Diabetes mellitus, permanent neonatal 39 tests
Diabetes mellitus, permanent neonatal 44 tests
Diabetes mellitus, transient neonatal, 14 tests
Diabetes mellitus, transient neonatal, 22 tests
Diabetes mellitus, transient neonatal, 32 tests
Diamond-Blackfan anemia 13 tests
Diamond-Blackfan anemia 102 tests
Diamond-Blackfan anemia 121 test
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 54 tests
Diamond-Blackfan anemia 62 tests
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 82 tests
Diamond-Blackfan anemia 92 tests
Diaphragmatic hernia 31 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome2 tests
Dias-Logan syndrome5 tests
Diastrophic dysplasia1 test
Dicarboxylic aminoaciduria3 tests
Diencephalic-mesencephalic junction dysplasia syndrome 13 tests
Differentiated thyroid carcinoma1 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome8 tests
Diffuse nonepidermolytic palmoplantar keratoderma2 tests
DiGeorge syndrome1 test
Dihydropteridine reductase deficiency6 tests
Dihydropyrimidinase deficiency3 tests
Dihydropyrimidine dehydrogenase deficiency8 tests
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C6 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1J4 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L4 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN5 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V5 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 3B2 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Dimethylglycine dehydrogenase deficiency3 tests
Distal arthrogryposis type 2B14 tests
Distal arthrogryposis type 5D3 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy, Tateyama type4 tests
Dizygotic twins1 test
DK1-congenital disorder of glycosylation7 tests
DNA ligase IV deficiency4 tests
DOCK2 deficiency2 tests
Dominant beta-thalassemia2 tests
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Donnai-Barrow syndrome6 tests
DOORS syndrome1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency7 tests
Dowling-Degos disease 11 test
Dowling-Degos disease 41 test
Doyne honeycomb retinal dystrophy2 tests
DPAGT1-congenital disorder of glycosylation6 tests
DPM3-congenital disorder of glycosylation1 test
Drash syndrome3 tests
Duane retraction syndrome 21 test
Duane-radial ray syndrome6 tests
Dubin-Johnson syndrome5 tests
Duchenne muscular dystrophy2 tests
Dyggve-Melchior-Clausen syndrome2 tests
DYRK1A-related intellectual disability syndrome5 tests
Dyschromatosis universalis hereditaria 11 test
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita, autosomal dominant 24 tests
Dyskeratosis congenita, autosomal dominant 39 tests
Dyskeratosis congenita, autosomal dominant 64 tests
Dyskeratosis congenita, autosomal recessive 15 tests
Dyskeratosis congenita, autosomal recessive 24 tests
Dyskeratosis congenita, autosomal recessive 34 tests
Dyskeratosis congenita, autosomal recessive 56 tests
Dyskeratosis congenita, autosomal recessive 65 tests
Dyskeratosis congenita, X-linked11 tests
Dyskinesia with orofacial involvement, autosomal dominant2 tests
Dyskinesia with orofacial involvement, autosomal recessive2 tests
Dyslexia, susceptibility to, 11 test
Dystonia 121 test
Dystonia 163 tests
Dystonia 242 tests
Dystonia 251 test
Dystonia 271 test
Dystonia 28, childhood-onset1 test
Dystonia 324 tests
Dystonia 51 test
Dystonia 911 tests
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities9 tests
Early-onset autosomal dominant Alzheimer disease2 tests
Early-onset generalized limb-onset dystonia1 test
Early-onset myopathy with fatal cardiomyopathy4 tests
Early-onset Parkinson disease 205 tests
Early-onset parkinsonism-intellectual disability syndrome4 tests
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2 tests
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome6 tests
EAST syndrome11 tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 4, hair/nail type2 tests
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectodermal dysplasia and immunodeficiency 22 tests
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies1 test
Ectopia lentis 1, isolated, autosomal dominant10 tests
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae3 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Eculizumab, poor response to2 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 14 tests
Ehlers-Danlos syndrome, classic type, 25 tests
Ehlers-Danlos syndrome, classic-like, 23 tests
Ehlers-Danlos syndrome, dermatosparaxis type4 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type6 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 14 tests
Ehlers-Danlos syndrome, musculocontractural type 15 tests
Ehlers-Danlos syndrome, musculocontractural type 22 tests
Ehlers-Danlos syndrome, periodontal type 15 tests
Ehlers-Danlos syndrome, periodontal type 24 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 13 tests
Ehlers-Danlos syndrome, type 42 tests
Eiken syndrome1 test
Elevated circulating creatine kinase concentration1 test
Elliptocytosis 12 tests
Elliptocytosis 21 test
Elliptocytosis 34 tests
Ellis-van Creveld syndrome7 tests
Elsahy-Waters syndrome3 tests
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant4 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant4 tests
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization1 test
Encephalocraniocutaneous lipomatosis2 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 26 tests
Encephalopathy due to GLUT1 deficiency2 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 85 tests
Encephalopathy, acute, infection-induced, susceptibility to, 41 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 18 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities3 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 15 tests
Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome10 tests
Enchondromatosis2 tests
Endometrial carcinoma10 tests
Epidermal nevus12 tests
Epidermodysplasia verruciformis, susceptibility to, 12 tests
Epidermodysplasia verruciformis, susceptibility to, 21 test
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex 1A, generalized severe1 test
Epidermolysis bullosa simplex 1C, localized1 test
Epidermolysis bullosa simplex 2A, generalized severe1 test
Epidermolysis bullosa simplex 2B, generalized intermediate1 test
Epidermolysis bullosa simplex 2C, localized1 test
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive5 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency5 tests
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive2 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type1 test
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa, junctional 2A, intermediate6 tests
Epidermolysis bullosa, junctional 2B, severe1 test
Epidermolysis bullosa, junctional 3A, intermediate6 tests
Epidermolysis bullosa, junctional 3B, severe1 test
Epidermolysis bullosa, junctional 4, intermediate3 tests
Epidermolysis bullosa, junctional 5A, intermediate1 test
Epidermolysis bullosa, junctional 6, with pyloric atresia3 tests
Epidermolytic palmoplantar keratoderma3 tests
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, childhood absence, susceptibility to, 63 tests
Epilepsy, early-onset, vitamin B6-dependent3 tests
Epilepsy, early-onset, with or without developmental delay3 tests
Epilepsy, familial focal, with variable foci 14 tests
Epilepsy, familial focal, with variable foci 23 tests
Epilepsy, familial focal, with variable foci 33 tests
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 13 tests
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 122 tests
Epilepsy, idiopathic generalized, susceptibility to, 133 tests
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 152 tests
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, idiopathic generalized, susceptibility to, 181 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, juvenile myoclonic, susceptibility to, 105 tests
Epilepsy, progressive myoclonic, 112 tests
Epilepsy, progressive myoclonic, 1B7 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders4 tests
Epileptic encephalopathy, infantile or early childhood, 11 test
Epileptic encephalopathy, infantile or early childhood, 24 tests
Epileptic encephalopathy, infantile or early childhood, 31 test
Epiphyseal dysplasia, multiple, 25 tests
Epiphyseal dysplasia, multiple, 36 tests
Epiphyseal dysplasia, multiple, 61 test
Epiphyseal dysplasia, multiple, 77 tests
Episodic ataxia type 17 tests
Episodic ataxia type 22 tests
Episodic ataxia type 55 tests
Episodic ataxia type 64 tests
Episodic ataxia, type 97 tests
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 23 tests
Epithelial recurrent erosion dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency3 tests
Erythrocytosis, familial, 41 test
Erythrocytosis, familial, 62 tests
Erythrocytosis, familial, 74 tests
Erythrokeratodermia variabilis et progressiva 11 test
Erythrokeratodermia variabilis et progressiva 23 tests
Erythrokeratodermia variabilis et progressiva 39 tests
Erythrokeratodermia variabilis et progressiva 44 tests
Erythrokeratodermia variabilis et progressiva 61 test
Erythroleukemia, familial, susceptibility to1 test
Essential fructosuria3 tests
Essential hypertension, genetic3 tests
Estrogen resistance syndrome1 test
Ethylmalonic encephalopathy10 tests
Euthyroid goiter4 tests
Even-plus syndrome1 test
Ewing sarcoma3 tests
Exercise-induced hyperinsulinism1 test
Exostoses, multiple, type 17 tests
Exostoses, multiple, type 22 tests
Extraskeletal myxoid chondrosarcoma3 tests
Exudative vitreoretinopathy 12 tests
Exudative vitreoretinopathy 2, X-linked5 tests
Exudative vitreoretinopathy 45 tests
Exudative vitreoretinopathy 52 tests
Exudative vitreoretinopathy 62 tests
Exudative vitreoretinopathy 71 test
Fabry disease16 tests
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome3 tests
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Facial paresis, hereditary congenital, 32 tests
Facioscapulohumeral muscular dystrophy 25 tests
Facioscapulohumeral muscular dystrophy 4, digenic1 test
Factor 5 and Factor VIII, combined deficiency of, 22 tests
Factor H deficiency3 tests
Factor I deficiency1 test
Factor V and factor VIII, combined deficiency of, type 12 tests
Factor V deficiency1 test
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of2 tests
FADD-related immunodeficiency4 tests
Familial acute necrotizing encephalopathy1 test
Familial adenomatous polyposis 16 tests
Familial adenomatous polyposis 25 tests
Familial adenomatous polyposis 36 tests
Familial adenomatous polyposis 43 tests
Familial amyloid nephropathy with urticaria AND deafness5 tests
Familial amyloid neuropathy5 tests
Familial apolipoprotein C-II deficiency5 tests
Familial atrial myxoma1 test
Familial benign flecked retina2 tests
Familial cancer of breast32 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 23 tests
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 43 tests
Familial colorectal cancer type X1 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome2 tests
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly9 tests
Familial dysautonomia1 test
Familial dysfibrinogenemia8 tests
Familial encephalopathy with neuroserpin inclusion bodies4 tests
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial expansile osteolysis3 tests
Familial gestational hyperthyroidism4 tests
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 34 tests
Familial hemophagocytic lymphohistiocytosis 43 tests
Familial hemophagocytic lymphohistiocytosis 54 tests
Familial hyperaldosteronism type II1 test
Familial hyperaldosteronism type III1 test
Familial hyperthyroidism due to mutations in TSH receptor2 tests
Familial hypobetalipoproteinemia 11 test
Familial hypobetalipoproteinemia 22 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 35 tests
Familial hypokalemia-hypomagnesemia7 tests
Familial infantile bilateral striatal necrosis3 tests
Familial infantile myasthenia8 tests
Familial infantile myoclonic epilepsy1 test
Familial isolated congenital asplenia1 test
Familial isolated deficiency of vitamin E5 tests
Familial isolated dilated cardiomyopathy1 test
Familial juvenile hyperuricemic nephropathy type 13 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever2 tests
Familial Mediterranean fever, autosomal dominant4 tests
Familial medullary thyroid carcinoma5 tests
Familial melanoma1 test
Familial meningioma15 tests
Familial multiple nevi flammei1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial porphyria cutanea tarda6 tests
Familial pseudohyperkalemia6 tests
Familial pulmonary capillary hemangiomatosis2 tests
Familial renal glucosuria1 test
Familial retinal arterial macroaneurysm1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial spontaneous pneumothorax1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness7 tests
Familial temporal lobe epilepsy 53 tests
Familial temporal lobe epilepsy 75 tests
Familial thyroid dyshormonogenesis 12 tests
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type7 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets6 tests
Fanconi anemia complementation group A7 tests
Fanconi anemia complementation group B5 tests
Fanconi anemia complementation group C7 tests
Fanconi anemia complementation group D112 tests
Fanconi anemia complementation group D23 tests
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G3 tests
Fanconi anemia complementation group I3 tests
Fanconi anemia complementation group J5 tests
Fanconi anemia complementation group L3 tests
Fanconi anemia complementation group N7 tests
Fanconi anemia complementation group O6 tests
Fanconi anemia complementation group P3 tests
Fanconi anemia complementation group Q2 tests
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T2 tests
Fanconi anemia complementation group U4 tests
Fanconi anemia, complementation group S14 tests
Fanconi renotubular syndrome 17 tests
Fanconi renotubular syndrome 21 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fanconi renotubular syndrome 59 tests
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis8 tests
Fasting plasma glucose level quantitative trait locus 52 tests
Fatal familial insomnia2 tests
Fatal infantile hypertonic myofibrillar myopathy5 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 38 tests
Febrile seizures, familial, 111 test
Febrile seizures, familial, 41 test
Febrile seizures, familial, 83 tests
Feingold syndrome type 15 tests
Female infertility due to zona pellucida defect2 tests
Fetal akinesia deformation sequence 15 tests
Fetal akinesia deformation sequence 21 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies5 tests
Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
Fetal hemoglobin quantitative trait locus 63 tests
FG syndrome 12 tests
FG syndrome 21 test
FG syndrome 49 tests
Fibrillary astrocytoma2 tests
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Fibromatosis, gingival, 16 tests
Fibromatosis, gingival, 51 test
Fibromuscular dysplasia, multifocal1 test
Fibrosarcoma1 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement4 tests
Finnish congenital nephrotic syndrome4 tests
Fish-eye disease5 tests
Fissured tongue1 test
Floating-Harbor syndrome3 tests
Focal dermal hypoplasia4 tests
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 14 tests
Focal segmental glomerulosclerosis 25 tests
Focal segmental glomerulosclerosis 3, susceptibility to3 tests
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 65 tests
Focal segmental glomerulosclerosis 71 test
Focal segmental glomerulosclerosis 83 tests
Focal segmental glomerulosclerosis and neurodevelopmental syndrome3 tests
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4 tests
Foveal hypoplasia 110 tests
Fowler syndrome3 tests
Fragile X syndrome3 tests
Fragile X-associated tremor/ataxia syndrome6 tests
Frank-Ter Haar syndrome5 tests
Fraser syndrome 17 tests
Fraser syndrome 21 test
Fraser syndrome 38 tests
Frasier syndrome3 tests
FRAXE2 tests
Freeman-Sheldon syndrome4 tests
Friedreich ataxia 17 tests
Frontometaphyseal dysplasia 11 test
Frontometaphyseal dysplasia 21 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome3 tests
Frontonasal dysplasia with alopecia and genital anomaly4 tests
Frontorhiny1 test
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 12 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 23 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 53 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 68 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 74 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
Fructose-biphosphatase deficiency5 tests
Fucosidosis11 tests
Fuhrmann syndrome1 test
Fumarase deficiency1 test
Gabriele de Vries syndrome3 tests
Galactosylceramide beta-galactosidase deficiency10 tests
Gallbladder disease 41 test
Galloway-Mowat syndrome 15 tests
Galloway-Mowat syndrome 2, X-linked2 tests
Galloway-Mowat syndrome 36 tests
Galloway-Mowat syndrome 42 tests
Galloway-Mowat syndrome 53 tests
Galloway-Mowat syndrome 63 tests
Galloway-Mowat syndrome 71 test
Galloway-Mowat syndrome 85 tests
Gamma-aminobutyric acid transaminase deficiency6 tests
Gamma-glutamylcysteine synthetase deficiency2 tests
GAPO syndrome2 tests
Gastric adenocarcinoma and proximal polyposis of the stomach6 tests
Gastric cancer9 tests
Gastrointestinal defects and immunodeficiency syndrome 13 tests
Gastrointestinal stromal tumor10 tests
Gaucher disease6 tests
Gaucher disease due to saposin C deficiency1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type I12 tests
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
Geleophysic dysplasia 15 tests
Geleophysic dysplasia 22 tests
Geleophysic dysplasia 31 test
Gemistocytic astrocytoma2 tests
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 22 tests
Generalized epilepsy with febrile seizures plus, type 93 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Genitopatellar syndrome6 tests
Germ cell tumor of testis5 tests
Geroderma osteodysplastica5 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Ghosal hematodiaphyseal dysplasia3 tests
Giant axonal neuropathy 16 tests
Gilbert syndrome1 test
Gillespie syndrome5 tests
Gillessen-Kaesbach-Nishimura syndrome7 tests
Glanzmann thrombasthenia 11 test
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, F2 tests
Glaucoma 1, open angle, G2 tests
Glaucoma 1, open angle, O2 tests
Glaucoma 3, primary congenital, D1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma 3A1 test
Glaucoma, normal tension, susceptibility to2 tests
Glaucoma, primary closed-angle1 test
Glioma susceptibility 18 tests
Glioma susceptibility 27 tests
Glioma susceptibility 312 tests
Glioma susceptibility 94 tests
Global developmental delay with or without impaired intellectual development2 tests
Glomerulopathy with fibronectin deposits 21 test
Glucocorticoid deficiency 11 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency 43 tests
Glucocorticoid deficiency with achalasia4 tests
Glucocorticoid resistance2 tests
Glucocorticoid-remediable aldosteronism2 tests
Glucose-6-phosphate transport defect1 test
Glutamate pyruvate transaminase 2 deficiency4 tests
Glutaric aciduria, type 19 tests
Glutaryl-CoA oxidase deficiency4 tests
Glutathione synthetase deficiency with 5-oxoprolinuria4 tests
Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
Gluthathione peroxidase deficiency5 tests
Glycine N-methyltransferase deficiency3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency6 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency6 tests
Glycogen storage disease due to muscle beta-enolase deficiency6 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency9 tests
Glycogen storage disease IXa14 tests
Glycogen storage disease IXb4 tests
Glycogen storage disease IXc5 tests
Glycogen storage disease IXd6 tests
Glycogen storage disease type III9 tests
Glycogen storage disease type X6 tests
Glycogen storage disease XV5 tests
Glycogen storage disease, type II16 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V7 tests
Glycogen storage disease, type VI5 tests
Glycogen storage disease, type VII8 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency5 tests
Glycosylphosphatidylinositol biosynthesis defect 153 tests
Glycosylphosphatidylinositol biosynthesis defect 163 tests
Glycosylphosphatidylinositol biosynthesis defect 173 tests
Glycosylphosphatidylinositol biosynthesis defect 183 tests
Glycosylphosphatidylinositol biosynthesis defect 213 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 36 tests
GM3 synthase deficiency3 tests
Gnathodiaphyseal dysplasia1 test
Gnb5-related intellectual disability-cardiac arrhythmia syndrome1 test
GNE myopathy1 test
GNPTG-mucolipidosis6 tests
Goldberg-Shprintzen syndrome4 tests
Gonadotropin-independent familial sexual precocity1 test
Gordon syndrome1 test
Gorlin syndrome8 tests
GRACILE syndrome1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 32 tests
Granulomatous disease, chronic, X-linked2 tests
Gray platelet syndrome3 tests
Grebe syndrome1 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome8 tests
Griscelli syndrome type 18 tests
Griscelli syndrome type 28 tests
Griscelli syndrome type 36 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions8 tests
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome5 tests
Growth delay due to insulin-like growth factor I resistance6 tests
Growth delay due to insulin-like growth factor type 1 deficiency4 tests
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency with hyperphenylalaninemia7 tests
Guillain-Barre syndrome, familial2 tests
H syndrome5 tests
Haddad syndrome1 test
Haim-Munk syndrome1 test
Hair morphology 13 tests
Hajdu-Cheney syndrome10 tests
Hand-foot-genital syndrome4 tests
Harderoporphyria5 tests
Hartsfield-Bixler-Demyer syndrome7 tests
Hashimoto thyroiditis1 test
Hawkinsinuria1 test
Hb SS disease2 tests
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 372 tests
Hearing loss, autosomal dominant 713 tests
Hearing loss, autosomal dominant 721 test
Hearing loss, autosomal dominant 753 tests
Hearing loss, autosomal dominant 801 test
Hearing loss, autosomal dominant 811 test
Hearing loss, autosomal dominant 821 test
Hearing loss, autosomal recessive 1061 test
Hearing loss, autosomal recessive 1071 test
Hearing loss, autosomal recessive 1081 test
Hearing loss, autosomal recessive 1091 test
Hearing loss, autosomal recessive 1102 tests
Hearing loss, autosomal recessive 1111 test
Hearing loss, autosomal recessive 1121 test
Hearing loss, autosomal recessive 1131 test
Hearing loss, autosomal recessive 573 tests
Hearing loss, autosomal recessive 941 test
Hearing loss, X-linked 42 tests
Hearing loss, X-linked 62 tests
Heart and brain malformation syndrome1 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type9 tests
Hecht syndrome1 test
Heimler syndrome 112 tests
Heimler syndrome 211 tests
Heinz body anemia11 tests
Helicobacter pylori infection, susceptibility to1 test
Helicoid peripapillary chorioretinal degeneration1 test
Heme oxygenase 1 deficiency1 test
Hemochromatosis type 12 tests
Hemochromatosis type 2A4 tests
Hemochromatosis type 2B7 tests
Hemochromatosis type 39 tests
Hemochromatosis type 43 tests
Hemoglobin H disease9 tests
Hemoglobin Lepore-beta-thalassemia syndrome1 test
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction1 test
Hemolytic anemia due to glucophosphate isomerase deficiency4 tests
Hemolytic anemia due to glutathione reductase deficiency3 tests
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 15 tests
Hemorrhage, intracerebral, susceptibility to2 tests
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Heparin cofactor II deficiency2 tests
Hepatic adenomas, familial2 tests
Hepatic methionine adenosyltransferase deficiency2 tests
Hepatic veno-occlusive disease-immunodeficiency syndrome2 tests
Hepatitis B virus, susceptibility to3 tests
Hepatitis C virus, susceptibility to4 tests
Hepatocellular carcinoma16 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 110 tests
Hereditary acrodermatitis enteropathica2 tests
Hereditary angioedema type 14 tests
Hereditary angioedema type 34 tests
Hereditary antithrombin deficiency3 tests
Hereditary arterial and articular multiple calcification syndrome2 tests
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary coproporphyria4 tests
Hereditary cryohydrocytosis with reduced stomatin2 tests
Hereditary diffuse gastric adenocarcinoma7 tests
Hereditary disease4 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease5 tests
Hereditary factor X deficiency disease3 tests
Hereditary factor XI deficiency disease4 tests
Hereditary fructosuria9 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary insensitivity to pain with anhidrosis6 tests
Hereditary intrinsic factor deficiency3 tests
Hereditary leiomyomatosis and renal cell cancer12 tests
Hereditary liability to pressure palsies2 tests
Hereditary mixed polyposis syndrome1 test
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency6 tests
Hereditary neutrophilia3 tests
Hereditary pancreatitis9 tests
Hereditary persistence of fetal hemoglobin2 tests
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1 test
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia5 tests
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 109 tests
Hereditary spastic paraplegia 125 tests
Hereditary spastic paraplegia 134 tests
Hereditary spastic paraplegia 159 tests
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 185 tests
Hereditary spastic paraplegia 29 tests
Hereditary spastic paraplegia 231 test
Hereditary spastic paraplegia 265 tests
Hereditary spastic paraplegia 285 tests
Hereditary spastic paraplegia 307 tests
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 334 tests
Hereditary spastic paraplegia 355 tests
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 48 tests
Hereditary spastic paraplegia 423 tests
Hereditary spastic paraplegia 439 tests
Hereditary spastic paraplegia 455 tests
Hereditary spastic paraplegia 465 tests
Hereditary spastic paraplegia 477 tests
Hereditary spastic paraplegia 485 tests
Hereditary spastic paraplegia 496 tests
Hereditary spastic paraplegia 509 tests
Hereditary spastic paraplegia 516 tests
Hereditary spastic paraplegia 535 tests
Hereditary spastic paraplegia 545 tests
Hereditary spastic paraplegia 555 tests
Hereditary spastic paraplegia 566 tests
Hereditary spastic paraplegia 577 tests
Hereditary spastic paraplegia 5A2 tests
Hereditary spastic paraplegia 65 tests
Hereditary spastic paraplegia 615 tests
Hereditary spastic paraplegia 625 tests
Hereditary spastic paraplegia 631 test
Hereditary spastic paraplegia 645 tests
Hereditary spastic paraplegia 78 tests
Hereditary spastic paraplegia 725 tests
Hereditary spastic paraplegia 736 tests
Hereditary spastic paraplegia 755 tests
Hereditary spastic paraplegia 778 tests
Hereditary spastic paraplegia 81 test
Hereditary spastic paraplegia 9A12 tests
Hereditary spherocytosis type 13 tests
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 34 tests
Hereditary spherocytosis type 46 tests
Hereditary spherocytosis type 54 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX15 tests
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency2 tests
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 110 tests
Hermansky-Pudlak syndrome 102 tests
Hermansky-Pudlak syndrome 210 tests
Hermansky-Pudlak syndrome 38 tests
Hermansky-Pudlak syndrome 410 tests
Hermansky-Pudlak syndrome 510 tests
Hermansky-Pudlak syndrome 610 tests
Hermansky-Pudlak syndrome 79 tests
Hermansky-Pudlak syndrome 87 tests
Hermansky-Pudlak syndrome 97 tests
Herpes simplex encephalitis, susceptibility to, 42 tests
Heterotaxy1 test
Heterotaxy, visceral, 1, X-linked6 tests
Heterotaxy, visceral, 4, autosomal5 tests
Heterotaxy, visceral, 5, autosomal5 tests
Heterotaxy, visceral, 6, autosomal5 tests
Heterotaxy, visceral, 7, autosomal4 tests
Heterotaxy, visceral, 8, autosomal5 tests
Heterotopia, periventricular, X-linked dominant1 test
Heyn-Sproul-Jackson syndrome2 tests
Hiatt-Neu-Cooper neurodevelopmental syndrome3 tests
Hidrotic ectodermal dysplasia syndrome1 test
High density lipoprotein cholesterol level quantitative trait locus 121 test
High myopia-sensorineural deafness syndrome1 test
Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
Hirschsprung disease, susceptibility to, 12 tests
Hirschsprung disease, susceptibility to, 21 test
Hirschsprung disease, susceptibility to, 35 tests
Hirschsprung disease, susceptibility to, 41 test
Histiocytic medullary reticulosis2 tests
HNSHA due to aldolase A deficiency8 tests
Hogue-Janssens syndrome 13 tests
Holocarboxylase synthetase deficiency8 tests
Holoprosencephaly 114 tests
Holoprosencephaly 12 with or without pancreatic agenesis1 test
Holoprosencephaly 13, X-linked1 test
Holoprosencephaly 21 test
Holoprosencephaly 34 tests
Holoprosencephaly 44 tests
Holoprosencephaly 54 tests
Holoprosencephaly 91 test
Holt-Oram syndrome6 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Houge-Janssens syndrome 25 tests
Houge-Janssens syndrome 33 tests
HSD10 mitochondrial disease6 tests
Human HOXA1 syndromes3 tests
Huntington disease2 tests
Huntington disease-like 13 tests
Huntington disease-like 21 test
Huppke-Brendel syndrome6 tests
Hurler syndrome6 tests
Hutchinson-Gilford syndrome1 test
Hyaline fibromatosis syndrome5 tests
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 22 tests
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 23 tests
Hydrolethalus syndrome 14 tests
Hydrolethalus syndrome 22 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
Hydroxykynureninuria1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 15 tests
Hyper-IgM syndrome type 23 tests
Hyper-IgM syndrome type 33 tests
Hyper-IgM syndrome type 55 tests
Hyperalphalipoproteinemia 14 tests
Hyperammonemia, type III8 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency4 tests
Hypercalcemia, infantile, 14 tests
Hypercalcemia, infantile, 24 tests
Hypercholanemia, familial 11 test
Hypercholesterolemia, autosomal dominant, 34 tests
Hypercholesterolemia, autosomal dominant, type B5 tests
Hypercholesterolemia, familial, 110 tests
Hypercholesterolemia, familial, 44 tests
Hyperekplexia 15 tests
Hyperekplexia 25 tests
Hyperekplexia 34 tests
Hyperekplexia 43 tests
Hyperglycinuria1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinemic hypoglycemia, familial, 47 tests
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome6 tests
Hyperkalemic periodic paralysis1 test
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia type IV1 test
Hyperlipoproteinemia, type 1D3 tests
Hyperlipoproteinemia, type I6 tests
Hyperlysinemia4 tests
Hypermanganesemia with dystonia 22 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis3 tests
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase5 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10 tests
Hyperostosis cranialis interna1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 2 with jaw tumors2 tests
Hyperparathyroidism 41 test
Hyperphenylalaninemia due to DNAJC12 deficiency3 tests
Hyperphosphatasemia with bone disease5 tests
Hyperphosphatasia with intellectual disability syndrome 16 tests
Hyperphosphatasia with intellectual disability syndrome 24 tests
Hyperphosphatasia with intellectual disability syndrome 33 tests
Hyperphosphatasia with intellectual disability syndrome 41 test
Hyperphosphatasia with intellectual disability syndrome 53 tests
Hyperpigmentation with or without hypopigmentation, familial progressive3 tests
Hyperproinsulinemia1 test
Hyperprolinemia type 26 tests
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 15 tests
Hypertrophic cardiomyopathy 14 tests
Hypertrophic cardiomyopathy 103 tests
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 124 tests
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 184 tests
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 255 tests
Hypertrophic cardiomyopathy 262 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal dominant2 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 14 tests
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome6 tests
Hyperuricemic nephropathy, familial juvenile type 43 tests
Hypervalinemia and hyperleucine-isoleucinemia1 test
Hypoalphalipoproteinemia, primary, 11 test
Hypoalphalipoproteinemia, primary, 21 test
Hypoalphalipoproteinemia, primary, 2, intermediate1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia4 tests
Hypogonadotropic hypogonadism 10 with or without anosmia4 tests
Hypogonadotropic hypogonadism 11 with or without anosmia4 tests
Hypogonadotropic hypogonadism 12 with or without anosmia4 tests
Hypogonadotropic hypogonadism 13 with or without anosmia4 tests
Hypogonadotropic hypogonadism 14 with or without anosmia4 tests
Hypogonadotropic hypogonadism 15 with or without anosmia3 tests
Hypogonadotropic hypogonadism 16 with or without anosmia5 tests
Hypogonadotropic hypogonadism 17 with or without anosmia5 tests
Hypogonadotropic hypogonadism 18 with or without anosmia4 tests
Hypogonadotropic hypogonadism 19 with or without anosmia4 tests
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia4 tests
Hypogonadotropic hypogonadism 21 with or without anosmia4 tests
Hypogonadotropic hypogonadism 22 with or without anosmia6 tests
Hypogonadotropic hypogonadism 24 without anosmia4 tests
Hypogonadotropic hypogonadism 26 with or without anosmia2 tests
Hypogonadotropic hypogonadism 3 with or without anosmia4 tests
Hypogonadotropic hypogonadism 4 with or without anosmia4 tests
Hypogonadotropic hypogonadism 5 with or without anosmia12 tests
Hypogonadotropic hypogonadism 6 with or without anosmia4 tests
Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
Hypogonadotropic hypogonadism 8 with or without anosmia3 tests
Hypogonadotropic hypogonadism 9 with or without anosmia4 tests
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
Hypohidrotic X-linked ectodermal dysplasia3 tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy5 tests
Hypokalemic periodic paralysis, type 13 tests
Hypokalemic periodic paralysis, type 27 tests
Hypomagnesemia, seizures, and intellectual disability 14 tests
Hypomagnesemia, seizures, and intellectual disability 21 test
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
Hypomyelinating leukodystrophy 107 tests
Hypomyelinating leukodystrophy 111 test
Hypomyelinating leukodystrophy 121 test
Hypomyelinating leukodystrophy 134 tests
Hypomyelinating leukodystrophy 38 tests
Hypomyelinating leukodystrophy 49 tests
Hypomyelinating leukodystrophy 63 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelinating leukodystrophy 97 tests
Hypomyelination and Congenital Cataract6 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity7 tests
Hypoparathyroidism, deafness, renal disease syndrome4 tests
Hypoparathyroidism, familial isolated 11 test
Hypoparathyroidism, familial isolated, 21 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic nephrolithiasis/osteoporosis 22 tests
Hypophosphatemic rickets, autosomal recessive, 15 tests
Hypophosphatemic rickets, autosomal recessive, 26 tests
Hypophosphatemic rickets, X-linked recessive5 tests
Hypopigmentation, organomegaly, and delayed myelination and development4 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome3 tests
Hypoplastic enamel-onycholysis-hypohidrosis syndrome3 tests
Hypoplastic left heart syndrome 22 tests
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome4 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypoproteinemia, hypercatabolic1 test
Hypospadias 1, X-linked3 tests
Hypospadias 2, X-linked4 tests
Hypothalamic hypothyroidism2 tests
Hypothyroidism due to TSH receptor mutations2 tests
Hypothyroidism, congenital, nongoitrous, 22 tests
Hypothyroidism, congenital, nongoitrous, 54 tests
Hypothyroidism, congenital, nongoitrous, 72 tests
Hypothyroidism, congenital, nongoitrous, 82 tests
Hypothyroidism, congenital, nongoitrous, 91 test
Hypotonia with lactic acidemia and hyperammonemia7 tests
Hypotonia, ataxia, and delayed development syndrome5 tests
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities2 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 16 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 26 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 34 tests
Hypotrichosis 12 tests
Hypotrichosis 112 tests
Hypotrichosis 122 tests
Hypotrichosis 131 test
Hypotrichosis 142 tests
Hypotrichosis 22 tests
Hypotrichosis 32 tests
Hypotrichosis 41 test
Hypotrichosis 62 tests
Hypotrichosis 73 tests
Hypotrichosis 82 tests
Ichthyosis bullosa of Siemens2 tests
Ichthyosis hystrix of Curth-Macklin2 tests
Ichthyosis prematurity syndrome4 tests
Ichthyosis vulgaris1 test
Ichthyosis, congenital, autosomal recessive 122 tests
Ichthyosis, congenital, autosomal recessive 132 tests
Ichthyosis, hystrix-like, with hearing loss1 test
Idiopathic basal ganglia calcification 15 tests
IFAP syndrome 1, with or without BRESHECK syndrome7 tests
IgE responsiveness, atopic1 test
IMAGe syndrome3 tests
Imerslund-Grasbeck syndrome type 14 tests
Imerslund-Grasbeck syndrome type 22 tests
Iminoglycinuria1 test
Immunodeficiency 1044 tests
Immunodeficiency 1051 test
Immunodeficiency 11b with atopic dermatitis1 test
Immunodeficiency 14b, autosomal recessive2 tests
Immunodeficiency 15a5 tests
Immunodeficiency 183 tests
Immunodeficiency 193 tests
Immunodeficiency 232 tests
Immunodeficiency 253 tests
Immunodeficiency 27A1 test
Immunodeficiency 31B1 test
Immunodeficiency 32B1 test
Immunodeficiency 331 test
Immunodeficiency 352 tests
Immunodeficiency 362 tests
Immunodeficiency 473 tests
Immunodeficiency 512 tests
Immunodeficiency 572 tests
Immunodeficiency 602 tests
Immunodeficiency 642 tests
Immunodeficiency 672 tests
Immunodeficiency 701 test
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia2 tests
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia1 test
Immunodeficiency 753 tests
Immunodeficiency 78 with autoimmunity and developmental delay2 tests
Immunodeficiency 958 tests
Immunodeficiency 961 test
Immunodeficiency due to CD25 deficiency4 tests
Immunodeficiency due to ficolin3 deficiency2 tests
Immunodeficiency due to MASP-2 deficiency2 tests
Immunodeficiency, common variable, 13 tests
Immunodeficiency, common variable, 103 tests
Immunodeficiency, common variable, 123 tests
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 33 tests
Immunodeficiency, common variable, 42 tests
Immunodeficiency, common variable, 53 tests
Immunodeficiency, common variable, 63 tests
Immunodeficiency, common variable, 71 test
Immunodeficiency, developmental delay, and hypohomocysteinemia5 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 12 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 25 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 32 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 42 tests
Immunoglobulin A deficiency 23 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis5 tests
Immunoskeletal dysplasia with neurodevelopmental abnormalities2 tests
Inborn glycerol kinase deficiency6 tests
Inclusion body myopathy and brain white matter abnormalities3 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome1 test
Infantile cerebellar-retinal degeneration7 tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly6 tests
Infantile convulsions and choreoathetosis1 test
Infantile cortical hyperostosis1 test
Infantile GM1 gangliosidosis1 test
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency7 tests
Infantile hypophosphatasia1 test
Infantile liver failure syndrome 210 tests
Infantile nephronophthisis7 tests
Infantile neuroaxonal dystrophy8 tests
Infantile onset spinocerebellar ataxia12 tests
Infantile-onset generalized dyskinesia with orofacial involvement1 test
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Infantile-onset X-linked spinal muscular atrophy5 tests
Infertility associated with multi-tailed spermatozoa and excessive DNA2 tests
Inflammatory bowel disease 12 tests
Inflammatory bowel disease 132 tests
Inflammatory bowel disease 251 test
Inflammatory bowel disease 282 tests
Inflammatory bowel disease, immunodeficiency, and encephalopathy6 tests
Inflammatory skin and bowel disease, neonatal, 21 test
Inherited Creutzfeldt-Jakob disease2 tests
Inherited susceptibility to asthma1 test
Inosine triphosphatase deficiency3 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome5 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual developmental disorder 593 tests
Intellectual developmental disorder 60 with seizures4 tests
Intellectual developmental disorder 613 tests
Intellectual developmental disorder 622 tests
Intellectual developmental disorder with autism and macrocephaly2 tests
Intellectual developmental disorder with cardiac defects and dysmorphic facies1 test
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2 tests
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies3 tests
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
Intellectual developmental disorder with macrocephaly, seizures, and speech delay3 tests
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2 tests
Intellectual developmental disorder with severe speech and ambulation defects3 tests
Intellectual developmental disorder, autosomal dominant 643 tests
Intellectual developmental disorder, autosomal dominant 653 tests
Intellectual developmental disorder, autosomal dominant 672 tests
Intellectual developmental disorder, autosomal dominant 681 test
Intellectual developmental disorder, autosomal dominant 691 test
Intellectual developmental disorder, autosomal recessive 673 tests
Intellectual developmental disorder, autosomal recessive 701 test
Intellectual developmental disorder, autosomal recessive 762 tests
Intellectual developmental disorder, autosomal recessive 771 test
Intellectual disability and myopathy syndrome1 test
Intellectual disability, anterior maxillary protrusion, and strabismus2 tests
Intellectual disability, autosomal dominant 14 tests
Intellectual disability, autosomal dominant 113 tests
Intellectual disability, autosomal dominant 135 tests
Intellectual disability, autosomal dominant 144 tests
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 205 tests
Intellectual disability, autosomal dominant 223 tests
Intellectual disability, autosomal dominant 243 tests
Intellectual disability, autosomal dominant 275 tests
Intellectual disability, autosomal dominant 294 tests
Intellectual disability, autosomal dominant 33 tests
Intellectual disability, autosomal dominant 303 tests
Intellectual disability, autosomal dominant 333 tests
Intellectual disability, autosomal dominant 342 tests
Intellectual disability, autosomal dominant 381 test
Intellectual disability, autosomal dominant 394 tests
Intellectual disability, autosomal dominant 403 tests
Intellectual disability, autosomal dominant 412 tests
Intellectual disability, autosomal dominant 423 tests
Intellectual disability, autosomal dominant 433 tests
Intellectual disability, autosomal dominant 454 tests
Intellectual disability, autosomal dominant 462 tests
Intellectual disability, autosomal dominant 473 tests
Intellectual disability, autosomal dominant 484 tests
Intellectual disability, autosomal dominant 54 tests
Intellectual disability, autosomal dominant 503 tests
Intellectual disability, autosomal dominant 513 tests
Intellectual disability, autosomal dominant 523 tests
Intellectual disability, autosomal dominant 533 tests
Intellectual disability, autosomal dominant 543 tests
Intellectual disability, autosomal dominant 55, with seizures4 tests
Intellectual disability, autosomal dominant 564 tests
Intellectual disability, autosomal dominant 573 tests
Intellectual disability, autosomal dominant 582 tests
Intellectual disability, autosomal dominant 61 test
Intellectual disability, autosomal dominant 81 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 13 tests
Intellectual disability, autosomal recessive 125 tests
Intellectual disability, autosomal recessive 135 tests
Intellectual disability, autosomal recessive 143 tests
Intellectual disability, autosomal recessive 183 tests
Intellectual disability, autosomal recessive 24 tests
Intellectual disability, autosomal recessive 273 tests
Intellectual disability, autosomal recessive 33 tests
Intellectual disability, autosomal recessive 343 tests
Intellectual disability, autosomal recessive 428 tests
Intellectual disability, autosomal recessive 433 tests
Intellectual disability, autosomal recessive 443 tests
Intellectual disability, autosomal recessive 463 tests
Intellectual disability, autosomal recessive 471 test
Intellectual disability, autosomal recessive 54 tests
Intellectual disability, autosomal recessive 503 tests
Intellectual disability, autosomal recessive 513 tests
Intellectual disability, autosomal recessive 523 tests
Intellectual disability, autosomal recessive 533 tests
Intellectual disability, autosomal recessive 543 tests
Intellectual disability, autosomal recessive 563 tests
Intellectual disability, autosomal recessive 573 tests
Intellectual disability, autosomal recessive 583 tests
Intellectual disability, autosomal recessive 593 tests
Intellectual disability, autosomal recessive 62 tests
Intellectual disability, autosomal recessive 603 tests
Intellectual disability, autosomal recessive 613 tests
Intellectual disability, autosomal recessive 631 test
Intellectual disability, autosomal recessive 653 tests
Intellectual disability, autosomal recessive 663 tests
Intellectual disability, autosomal recessive 76 tests
Intellectual disability, FRA12A type3 tests
Intellectual disability, X-linked 14 tests
Intellectual disability, X-linked 1023 tests
Intellectual disability, X-linked 1043 tests
Intellectual disability, X-linked 196 tests
Intellectual disability, X-linked 213 tests
Intellectual disability, X-linked 303 tests
Intellectual disability, X-linked 413 tests
Intellectual disability, X-linked 494 tests
Intellectual disability, X-linked 501 test
Intellectual disability, X-linked 583 tests
Intellectual disability, X-linked 634 tests
Intellectual disability, X-linked 721 test
Intellectual disability, X-linked 93 tests
Intellectual disability, X-linked 901 test
Intellectual disability, X-linked 933 tests
Intellectual disability, X-linked 963 tests
Intellectual disability, X-linked 974 tests
Intellectual disability, X-linked 991 test
Intellectual disability, X-linked 99, syndromic, female-restricted3 tests
Intellectual disability, X-linked syndromic, Turner type5 tests
Intellectual disability, X-linked, syndromic 331 test
Intellectual disability, X-linked, syndromic, 355 tests
Intellectual disability, X-linked, syndromic, Bain type3 tests
Intellectual disability, X-linked, syndromic, Houge type3 tests
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, X-linked, with panhypopituitarism5 tests
Intellectual disability-epilepsy-extrapyramidal syndrome4 tests
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3 tests
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3 tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome4 tests
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4 tests
Intellectual disability-severe speech delay-mild dysmorphism syndrome5 tests
Intellectual disability-strabismus syndrome3 tests
Interstitial lung disease 22 tests
Interstitial lung disease due to ABCA3 deficiency3 tests
Intervertebral disc disorder1 test
Intestinal hypomagnesemia 14 tests
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency1 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1 test
Iodotyrosine deiodination defect2 tests
Iodotyrosyl coupling defect1 test
Irido-corneo-trabecular dysgenesis1 test
Iron-refractory iron deficiency anemia2 tests
Ischemic stroke2 tests
Isolated congenital digital clubbing1 test
Isolated congenital megalocornea1 test
Isolated cryptophthalmia6 tests
Isolated focal cortical dysplasia type II6 tests
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated growth hormone deficiency, type 42 tests
Isolated hyperchlorhidrosis2 tests
Isolated lutropin deficiency4 tests
Isolated microphthalmia 21 test
Isolated microphthalmia 32 tests
Isolated microphthalmia 51 test
Isolated microphthalmia 63 tests
Isolated microphthalmia 71 test
Isolated microphthalmia 83 tests
Isolated neonatal sclerosing cholangitis4 tests
Isolated optic nerve hypoplasia1 test
Isolated thyroid-stimulating hormone deficiency3 tests
Isovaleryl-CoA dehydrogenase deficiency8 tests
Jaberi-Elahi syndrome3 tests
Jackson-Weiss syndrome10 tests
Jalili syndrome1 test
Jawad syndrome9 tests
Jervell and Lange-Nielsen syndrome 21 test
Johanson-Blizzard syndrome7 tests
Joubert syndrome 110 tests
Joubert syndrome 101 test
Joubert syndrome 139 tests
Joubert syndrome 148 tests
Joubert syndrome 1510 tests
Joubert syndrome 169 tests
Joubert syndrome 177 tests
Joubert syndrome 181 test
Joubert syndrome 210 tests
Joubert syndrome 219 tests
Joubert syndrome 225 tests
Joubert syndrome 249 tests
Joubert syndrome 252 tests
Joubert syndrome 261 test
Joubert syndrome 279 tests
Joubert syndrome 2810 tests
Joubert syndrome 39 tests
Joubert syndrome 303 tests
Joubert syndrome 311 test
Joubert syndrome 324 tests
Joubert syndrome 334 tests
Joubert syndrome 354 tests
Joubert syndrome 59 tests
Joubert syndrome 61 test
Joubert syndrome 811 tests
Joubert syndrome 91 test
Joubert syndrome with renal defect2 tests
Junctional epidermolysis bullosa gravis of Herlitz6 tests
Junctional epidermolysis bullosa with pyloric atresia5 tests
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile arthritis due to defect in LACC11 test
Juvenile cataract-microcornea-renal glucosuria syndrome2 tests
Juvenile myelomonocytic leukemia11 tests
Juvenile onset Parkinson disease 19A3 tests
Juvenile polyposis syndrome14 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome6 tests
Juvenile primary lateral sclerosis6 tests
Juvenile retinoschisis3 tests
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
Kabuki syndrome 18 tests
Kabuki syndrome 28 tests
Kahrizi syndrome6 tests
Kartagener syndrome10 tests
Karyomegalic interstitial nephritis5 tests
KBG syndrome3 tests
Keipert syndrome3 tests
Kell blood group system1 test
Kennedy disease2 tests
Keratitis fugax hereditaria1 test
Keratoderma with scleroatrophy of the extremities1 test
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive1 test
Keratosis follicularis2 tests
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome3 tests
Keratosis palmoplantaris striata 21 test
Keratosis palmoplantaris striata 32 tests
Ketoacidosis due to monocarboxylate transporter-1 deficiency7 tests
Keutel syndrome6 tests
Kindler syndrome2 tests
KINSSHIP syndrome1 test
Kleefstra syndrome 14 tests
Kleefstra syndrome 25 tests
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome4 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia1 test
Knobloch syndrome 11 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Koolen-de Vries syndrome2 tests
Kostmann syndrome7 tests
Krabbe disease due to saposin A deficiency1 test
Kufor-Rakeb syndrome8 tests
Kugelberg-Welander disease3 tests
Kuru, susceptibility to2 tests
Kury-Isidor syndrome1 test
L-2-hydroxyglutaric aciduria5 tests
L-ferritin deficiency10 tests
Lafora disease5 tests
Lamb-Shaffer syndrome3 tests
Landau-Kleffner syndrome4 tests
Langer mesomelic dysplasia syndrome2 tests
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia4 tests
Large congenital melanocytic nevus4 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome1 test
Larsen-like syndrome, B3GAT3 type4 tests
Laryngo-onycho-cutaneous syndrome1 test
Late-onset retinal degeneration1 test
Lateral meningocele syndrome9 tests
Lathosterolosis3 tests
Laurence-Moon syndrome11 tests
Lazy leukocyte syndrome1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 105 tests
Leber congenital amaurosis 111 test
Leber congenital amaurosis 124 tests
Leber congenital amaurosis 135 tests
Leber congenital amaurosis 144 tests
Leber congenital amaurosis 154 tests
Leber congenital amaurosis 164 tests
Leber congenital amaurosis 21 test
Leber congenital amaurosis 34 tests
Leber congenital amaurosis 44 tests
Leber congenital amaurosis 55 tests
Leber congenital amaurosis 64 tests
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 94 tests
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 74 tests
Left ventricular noncompaction 83 tests
Legg-Calve-Perthes disease1 test
Legius syndrome3 tests
Lenz-Majewski hyperostosis syndrome3 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 35 tests
Leprechaunism syndrome2 tests
Leri-Weill dyschondrosteosis2 tests
Lesch-Nyhan syndrome5 tests
Lessel-kubisch syndrome1 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal arthrogryposis-anterior horn cell disease syndrome1 test
Lethal congenital contracture syndrome 15 tests
Lethal congenital contracture syndrome 112 tests
Lethal congenital contracture syndrome 33 tests
Lethal congenital contracture syndrome 41 test
Lethal congenital contracture syndrome 71 test
Lethal congenital contracture syndrome 94 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
Lethal Kniest-like syndrome7 tests
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome3 tests
Lethal multiple pterygium syndrome8 tests
Lethal occipital encephalocele-skeletal dysplasia syndrome2 tests
Lethal osteosclerotic bone dysplasia4 tests
Lethal polymalformative syndrome, Boissel type2 tests
Lethal tight skin contracture syndrome1 test
Leucine-induced hypoglycemia1 test
Leukocyte adhesion deficiency 12 tests
Leukocyte adhesion deficiency 34 tests
Leukocyte adhesion deficiency type II6 tests
Leukodystrophy and acquired microcephaly with or without dystonia;3 tests
Leukodystrophy, hypomyelinating, 144 tests
Leukodystrophy, hypomyelinating, 154 tests
Leukodystrophy, hypomyelinating, 164 tests
Leukodystrophy, hypomyelinating, 174 tests
Leukodystrophy, hypomyelinating, 183 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome8 tests
Leukoencephalopathy with mild cerebellar ataxia and white matter edema5 tests
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate4 tests
Leukoencephalopathy, diffuse hereditary, with spheroids 17 tests
Leukoencephalopathy, hereditary diffuse, with spheroids 25 tests
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1 test
Leukoencephalopathy, progressive, with ovarian failure8 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome7 tests
Levy-Hollister syndrome10 tests
Lewy body dementia5 tests
Leydig cell agenesis3 tests
Li-Fraumeni syndrome 18 tests
Li-Fraumeni syndrome 27 tests
Li-Ghorbani-Weisz-Hubshman syndrome3 tests
Liang-Wang syndrome1 test
Liddle syndrome 14 tests
Liddle syndrome 21 test
Liddle syndrome 31 test
Limb-girdle muscular dystrophy due to POMK deficiency7 tests
Limb-mammary syndrome1 test
Linear nevus sebaceous syndrome4 tests
Linear skin defects with multiple congenital anomalies 18 tests
Linear skin defects with multiple congenital anomalies 25 tests
Linear skin defects with multiple congenital anomalies 31 test
Lipase deficiency, combined4 tests
LIPE-related familial partial lipodystrophy3 tests
Lipid proteinosis1 test
Lipoic acid synthetase deficiency8 tests
Lipoprotein glomerulopathy1 test
LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS1 test
Lipoyl transferase 1 deficiency8 tests
Lissencephaly 41 test
Lissencephaly 6 with microcephaly4 tests
Lissencephaly 84 tests
Lissencephaly 9 with complex brainstem malformation4 tests
Lissencephaly due to LIS1 mutation6 tests
Lissencephaly due to TUBA1A mutation4 tests
Lissencephaly type 1 due to doublecortin gene mutation5 tests
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 43 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome 13 tests
Long QT syndrome 102 tests
Long QT syndrome 113 tests
Long QT syndrome 124 tests
Long QT syndrome 134 tests
Long QT syndrome 152 tests
Long QT syndrome 162 tests
Long QT syndrome 22 tests
Long QT syndrome 31 test
Long QT syndrome 54 tests
Long QT syndrome 62 tests
Long qt syndrome 81 test
Long QT syndrome 91 test
Lopes-Maciel-Rodan syndrome1 test
Loricrin keratoderma2 tests
Low phospholipid associated cholelithiasis1 test
Lowe syndrome1 test
Lower motor neuron syndrome with late-adult onset3 tests
Lower urinary tract obstruction, congenital5 tests
Lucey-Driscoll syndrome1 test
Lung cancer18 tests
Lung disease, immunodeficiency, and chromosome breakage syndrome;4 tests
Luscan-Lumish syndrome5 tests
Lymphangiomyomatosis7 tests
Lymphatic malformation 36 tests
Lymphatic malformation 61 test
Lymphatic malformation 71 test
Lymphoma, non-Hodgkin, familial7 tests
Lymphoproliferative syndrome 14 tests
Lymphoproliferative syndrome 22 tests
Lynch syndrome3 tests
Lynch syndrome 17 tests
Lynch syndrome 47 tests
Lynch syndrome 57 tests
Lynch syndrome 84 tests
Lysinuric protein intolerance10 tests
Lysosomal acid lipase deficiency7 tests
Macrocephaly, acquired, with impaired intellectual development3 tests
Macrocephaly-autism syndrome2 tests
Macrocephaly-developmental delay syndrome3 tests
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome4 tests
Macroglobulinemia, Waldenstrom, 12 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss9 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant3 tests
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome3 tests
Macular degeneration, age-related, 31 test
Macular degeneration, early-onset6 tests
Macular degeneration, X-linked atrophic1 test
Macular dystrophy with central cone involvement8 tests
Maffucci syndrome2 tests
Majeed syndrome3 tests
Malan overgrowth syndrome2 tests
Malaria, susceptibility to9 tests
Male infertility due to globozoospermia1 test
Maleylacetoacetate isomerase deficiency1 test
Maligant granulosa cell tumor of ovary1 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of esophagus7 tests
Malignant tumor of prostate23 tests
Malignant tumor of urinary bladder6 tests
Mandibular hypoplasia-deafness-progeroid syndrome3 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy3 tests
Mandibulofacial dysostosis-microcephaly syndrome4 tests
Mannose-binding lectin deficiency2 tests
Maple syrup urine disease12 tests
Maple syrup urine disease, mild variant1 test
Marden-Walker syndrome1 test
Marfan syndrome2 tests
Marinesco-Sjögren syndrome8 tests
Marshall syndrome2 tests
Marshall-Smith syndrome2 tests
Martsolf syndrome 19 tests
Martsolf syndrome 21 test
MASA syndrome1 test
MASS syndrome2 tests
Mast syndrome5 tests
Matthew-Wood syndrome9 tests
Maturity-onset diabetes of the young type 16 tests
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 113 tests
Maturity-onset diabetes of the young type 131 test
Maturity-onset diabetes of the young type 143 tests
Maturity-onset diabetes of the young type 26 tests
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 63 tests
Maturity-onset diabetes of the young type 73 tests
Maturity-onset diabetes of the young type 84 tests
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome11 tests
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome4 tests
Meckel syndrome 131 test
Meckel syndrome 142 tests
Meckel syndrome, type 18 tests
Meckel syndrome, type 106 tests
Meckel syndrome, type 118 tests
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 47 tests
Meckel syndrome, type 510 tests
Meckel syndrome, type 61 test
Meckel syndrome, type 81 test
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency8 tests
MEDNIK syndrome4 tests
Medulloblastoma23 tests
Meester-Loeys syndrome1 test
Megabladder, congenital3 tests
Megaconial type congenital muscular dystrophy4 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 14 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 24 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 54 tests
Megalencephalic leukoencephalopathy with subcortical cysts 19 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A7 tests
Megalencephaly-capillary malformation-polymicrogyria syndrome2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 26 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness10 tests
MEGF10-related myopathy5 tests
MEGF8-related Carpenter syndrome3 tests
MEHMO syndrome6 tests
Meier-Gorlin syndrome 15 tests
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 71 test
Melanoma and neural system tumor syndrome6 tests
Melanoma, cutaneous malignant, susceptibility to, 12 tests
Melanoma, cutaneous malignant, susceptibility to, 27 tests
Melanoma, cutaneous malignant, susceptibility to, 33 tests
Melanoma, cutaneous malignant, susceptibility to, 52 tests
Melanoma, cutaneous malignant, susceptibility to, 62 tests
Melanoma, cutaneous malignant, susceptibility to, 83 tests
Melanoma, cutaneous malignant, susceptibility to, 92 tests
Melanoma, uveal, susceptibility to, 24 tests
Melanoma-pancreatic cancer syndrome6 tests
Melnick-Needles syndrome1 test
Melorheostosis6 tests
MEND syndrome1 test
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2 tests
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency3 tests
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency7 tests
Menke-Hennekam syndrome 11 test
Menke-Hennekam syndrome 24 tests
Menkes kinky-hair syndrome1 test
Meretoja syndrome1 test
Merosin deficient congenital muscular dystrophy1 test
Mesothelioma, malignant1 test
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2 tests
Metabolic myopathy due to lactate transporter defect1 test
Metachondromatosis1 test
Metachromatic leukodystrophy9 tests
Metaphyseal anadysplasia 24 tests
Metaphyseal chondrodysplasia, Jansen type5 tests
Metaphyseal chondrodysplasia, Schmid type4 tests
Metaphyseal chondrodysplasia, Spahr type1 test
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome4 tests
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome4 tests
Metatropic dysplasia1 test
Methemoglobinemia type 45 tests
Methemoglobinemia, alpha type2 tests
Methemoglobinemia, beta-globin type2 tests
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG7 tests
Methylmalonate semialdehyde dehydrogenase deficiency4 tests
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency7 tests
Methylmalonic acidemia due to transcobalamin receptor defect5 tests
Methylmalonic acidemia with homocystinuria, type cblJ5 tests
Methylmalonic acidemia with homocystinuria, type cblX7 tests
Methylmalonic aciduria and homocystinuria type cblD9 tests
Methylmalonic aciduria and homocystinuria type cblF6 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency11 tests
Methylmalonic aciduria, cblA type10 tests
Methylmalonic aciduria, cblB type10 tests
Mevalonic aciduria1 test
MGAT2-congenital disorder of glycosylation6 tests
MHC class I deficiency4 tests
MHC class II deficiency5 tests
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
Microcephalic osteodysplastic dysplasia, Saul-Wilson type5 tests
Microcephalic osteodysplastic primordial dwarfism type II7 tests
Microcephalic primordial dwarfism due to RTTN deficiency4 tests
Microcephalic primordial dwarfism due to ZNF335 deficiency5 tests
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 1, primary, autosomal recessive5 tests
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive4 tests
Microcephaly 15, primary, autosomal recessive4 tests
Microcephaly 16, primary, autosomal recessive3 tests
Microcephaly 17, primary, autosomal recessive4 tests
Microcephaly 18, primary, autosomal dominant3 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations5 tests
Microcephaly 20, primary, autosomal recessive6 tests
Microcephaly 22, primary, autosomal recessive4 tests
Microcephaly 26, primary, autosomal dominant6 tests
Microcephaly 3, primary, autosomal recessive5 tests
Microcephaly 4, primary, autosomal recessive4 tests
Microcephaly 5, primary, autosomal recessive5 tests
Microcephaly 6, primary, autosomal recessive8 tests
Microcephaly 7, primary, autosomal recessive5 tests
Microcephaly 8, primary, autosomal recessive4 tests
Microcephaly 9, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 14 tests
Microcephaly and chorioretinopathy 24 tests
Microcephaly and chorioretinopathy 34 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability5 tests
Microcephaly, epilepsy, and diabetes syndrome 18 tests
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome2 tests
Microcephaly, growth deficiency, seizures, and brain malformations1 test
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency9 tests
Microcephaly, seizures, and developmental delay1 test
Microcephaly, short stature, and impaired glucose metabolism 16 tests
Microcephaly, short stature, and impaired glucose metabolism 22 tests
Microcephaly-capillary malformation syndrome5 tests
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome5 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4 tests
Microcephaly-thin corpus callosum-intellectual disability syndrome3 tests
Microcornea-myopic chorioretinal atrophy2 tests
Microphthalmia with brain and digit anomalies1 test
Microphthalmia with limb anomalies3 tests
Microphthalmia, isolated, with coloboma 101 test
Microphthalmia, isolated, with coloboma 33 tests
Microphthalmia, isolated, with coloboma 63 tests
Microphthalmia, isolated, with coloboma 71 test
Microphthalmia, isolated, with coloboma 93 tests
Microphthalmia, syndromic 15 tests
Microphthalmia, syndromic 124 tests
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1 test
Microvascular complications of diabetes, susceptibility to, 11 test
Microvascular complications of diabetes, susceptibility to, 41 test
Microvascular complications of diabetes, susceptibility to, 53 tests
Microvascular complications of diabetes, susceptibility to, 63 tests
Microvascular complications of diabetes, susceptibility to, 78 tests
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis4 tests
Migraine with or without aura, susceptibility to, 11 test
Migraine, familial hemiplegic, 12 tests
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 32 tests
Miller Dieker syndrome3 tests
Miller syndrome4 tests
MIRAGE syndrome1 test
Mirror movements 12 tests
Mismatch repair cancer syndrome 17 tests
Mismatch repair cancer syndrome 29 tests
Mismatch repair cancer syndrome 39 tests
Mismatch repair cancer syndrome 410 tests
Mitchell syndrome7 tests
Mitochondrial complex 1 deficiency, nuclear type 108 tests
Mitochondrial complex 1 deficiency, nuclear type 118 tests
Mitochondrial complex 1 deficiency, nuclear type 129 tests
Mitochondrial complex 1 deficiency, nuclear type 138 tests
Mitochondrial complex 1 deficiency, nuclear type 148 tests
Mitochondrial complex 1 deficiency, nuclear type 158 tests
Mitochondrial complex 1 deficiency, nuclear type 168 tests
Mitochondrial complex 1 deficiency, nuclear type 171 test
Mitochondrial complex 1 deficiency, nuclear type 187 tests
Mitochondrial complex 1 deficiency, nuclear type 198 tests
Mitochondrial complex 1 deficiency, nuclear type 27 tests
Mitochondrial complex 1 deficiency, nuclear type 218 tests
Mitochondrial complex 1 deficiency, nuclear type 228 tests
Mitochondrial complex 1 deficiency, nuclear type 237 tests
Mitochondrial complex 1 deficiency, nuclear type 244 tests
Mitochondrial complex 1 deficiency, nuclear type 257 tests
Mitochondrial complex 1 deficiency, nuclear type 268 tests
Mitochondrial complex 1 deficiency, nuclear type 277 tests
Mitochondrial complex 1 deficiency, nuclear type 292 tests
Mitochondrial complex 1 deficiency, nuclear type 38 tests
Mitochondrial complex 1 deficiency, nuclear type 303 tests
Mitochondrial complex 1 deficiency, nuclear type 313 tests
Mitochondrial complex 1 deficiency, nuclear type 323 tests
Mitochondrial complex 1 deficiency, nuclear type 333 tests
Mitochondrial complex 1 deficiency, nuclear type 48 tests
Mitochondrial complex 1 deficiency, nuclear type 58 tests
Mitochondrial complex 1 deficiency, nuclear type 68 tests
Mitochondrial complex 1 deficiency, nuclear type 78 tests
Mitochondrial complex 1 deficiency, nuclear type 88 tests
Mitochondrial complex 1 deficiency, nuclear type 98 tests
Mitochondrial complex 2 deficiency, nuclear type 21 test
Mitochondrial complex 2 deficiency, nuclear type 31 test
Mitochondrial complex 2 deficiency, nuclear type 41 test
Mitochondrial complex 4 deficiency, nuclear type 103 tests
Mitochondrial complex 4 deficiency, nuclear type 118 tests
Mitochondrial complex 4 deficiency, nuclear type 128 tests
Mitochondrial complex 4 deficiency, nuclear type 177 tests
Mitochondrial complex 4 deficiency, nuclear type 37 tests
Mitochondrial complex 4 deficiency, nuclear type 48 tests
Mitochondrial complex 4 deficiency, nuclear type 78 tests
Mitochondrial complex 4 deficiency, nuclear type 88 tests
Mitochondrial complex I deficiency, nuclear type 18 tests
Mitochondrial complex II deficiency, nuclear type 18 tests
Mitochondrial complex III deficiency nuclear type 113 tests
Mitochondrial complex III deficiency nuclear type 26 tests
Mitochondrial complex III deficiency nuclear type 35 tests
Mitochondrial complex III deficiency nuclear type 47 tests
Mitochondrial complex III deficiency nuclear type 56 tests
Mitochondrial complex III deficiency nuclear type 64 tests
Mitochondrial complex III deficiency nuclear type 75 tests
Mitochondrial complex III deficiency nuclear type 87 tests
Mitochondrial complex IV deficiency, nuclear type 16 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 210 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 33 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 16 tests
Mitochondrial disease1 test
Mitochondrial DNA deletion syndrome with progressive myopathy8 tests
Mitochondrial DNA depletion syndrome 18 tests
Mitochondrial DNA depletion syndrome 117 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 1310 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)12 tests
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)13 tests
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome 99 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria10 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency6 tests
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy8 tests
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome4 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome3 tests
Mitochondrial pyruvate carrier deficiency6 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency7 tests
Mitochondrial trifunctional protein deficiency10 tests
Mitral valve prolapse, myxomatous 22 tests
Miyoshi muscular dystrophy 15 tests
Miyoshi muscular dystrophy 37 tests
MOGS-congenital disorder of glycosylation6 tests
Monocytopenia with susceptibility to infections5 tests
Monosomy 7 myelodysplasia and leukemia syndrome 12 tests
Monosomy 7 myelodysplasia and leukemia syndrome 21 test
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 21 test
Mosaic variegated aneuploidy syndrome 31 test
Mowat-Wilson syndrome7 tests
Moyamoya disease 51 test
Moyamoya disease with early-onset achalasia2 tests
MPDU1-congenital disorder of glycosylation5 tests
MPI-congenital disorder of glycosylation7 tests
Mucolipidosis type II7 tests
Mucolipidosis type IV6 tests
Mucopolysaccharidosis6 tests
Mucopolysaccharidosis type 65 tests
Mucopolysaccharidosis type 75 tests
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-II7 tests
Mucopolysaccharidosis, MPS-III-A6 tests
Mucopolysaccharidosis, MPS-III-B5 tests
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D6 tests
Mucopolysaccharidosis, MPS-IV-A5 tests
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Muir-Torré syndrome9 tests
Mulibrey nanism syndrome2 tests
Mullegama-Klein-Martinez syndrome1 test
Mullerian aplasia and hyperandrogenism3 tests
Multicentric carpo-tarsal osteolysis with or without nephropathy3 tests
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome3 tests
Multiple acyl-CoA dehydrogenase deficiency13 tests
Multiple benign circumferential skin creases on limbs 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 14 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 26 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple cutaneous and mucosal venous malformations2 tests
Multiple endocrine neoplasia type 43 tests
Multiple endocrine neoplasia, type 16 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA5 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB5 tests
Multiple epiphyseal dysplasia type 11 test
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple epiphyseal dysplasia, Al-Gazali type2 tests
Multiple mitochondrial dysfunctions syndrome 19 tests
Multiple mitochondrial dysfunctions syndrome 28 tests
Multiple mitochondrial dysfunctions syndrome 35 tests
Multiple mitochondrial dysfunctions syndrome 47 tests
Multiple mitochondrial dysfunctions syndrome 53 tests
Multiple mitochondrial dysfunctions syndrome 65 tests
Multiple myeloma2 tests
Multiple sclerosis, susceptibility to3 tests
Multiple sclerosis, susceptibility to, 52 tests
Multiple self-healing squamous epithelioma3 tests
Multiple sulfatase deficiency8 tests
Multiple synostoses syndrome 21 test
Multiple system atrophy 1, susceptibility to10 tests
Multisystemic smooth muscle dysfunction syndrome5 tests
Mungan syndrome3 tests
Muscle AMP deaminase deficiency6 tests
Muscular dystrophy, limb-girdle, autosomal dominant 41 test
Muscular dystrophy, limb-girdle, autosomal recessive 239 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 106 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 116 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 48 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 86 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A135 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A27 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A69 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 156 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B18 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81 test
Muscular dystrophy-dystroglycanopathy type B61 test
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 224 tests
Myasthenic syndrome, congenital, 23, presynaptic4 tests
Myasthenic syndrome, congenital, 24, presynaptic4 tests
Myasthenic syndrome, congenital, 25, presynaptic1 test
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
Mycobacterium tuberculosis, susceptibility to2 tests
Myelodysplastic syndrome11 tests
Myelodysplastic syndrome associated with isolated del(5q)3 tests
Myeloproliferative disorder, chronic, with eosinophilia3 tests
MYH7-related skeletal myopathy4 tests
Myhre syndrome2 tests
Myocardial infarction, susceptibility to6 tests
Myoclonic dystonia 113 tests
Myoclonic dystonia 261 test
Myoclonic epilepsy, juvenile, susceptibility to, 13 tests
Myoclonic-astatic epilepsy5 tests
Myoclonus, familial, 21 test
Myoclonus, intractable, neonatal1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 35 tests
Myofibrillar myopathy 41 test
Myofibrillar myopathy 65 tests
Myofibrillar myopathy 73 tests
Myofibrillar myopathy 83 tests
Myofibromatosis, infantile, 13 tests
Myofibromatosis, infantile, 23 tests
Myoglobinuria, acute recurrent, autosomal recessive5 tests
Myopathy due to calsequestrin and SERCA1 protein overload3 tests
Myopathy with abnormal lipid metabolism7 tests
Myopathy, centronuclear, 25 tests
Myopathy, centronuclear, 54 tests
Myopathy, congenital proximal, with minicore lesions1 test
Myopathy, congenital, progressive, with scoliosis1 test
Myopathy, congenital, with respiratory insufficiency and bone fractures1 test
Myopathy, congenital, with structured cores and z-line abnormalities1 test
Myopathy, congenital, with tremor4 tests
Myopathy, distal, 6, adult-onset, autosomal dominant2 tests
Myopathy, distal, 7, adult-onset, X-linked1 test
Myopathy, epilepsy, and progressive cerebral atrophy4 tests
Myopathy, lactic acidosis, and sideroblastic anemia 14 tests
Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure5 tests
Myopathy, myosin storage, autosomal recessive1 test
Myopathy, proximal, and ophthalmoplegia4 tests
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe4 tests
Myopathy, tubular aggregate, 11 test
Myopia 25, autosomal dominant3 tests
Myopia 61 test
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosclerosis5 tests
Myosin storage myopathy1 test
Myostatin-related muscle hypertrophy1 test
Myotonic dystrophy type 22 tests
MYPN-related myopathy4 tests
NAD(P)HX dehydratase deficiency3 tests
Naegeli-Franceschetti-Jadassohn syndrome1 test
Nager syndrome2 tests
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome1 test
Nail-patella syndrome1 test
Nail-patella-like renal disease7 tests
Namaqualand hip dysplasia1 test
Nance-Horan syndrome3 tests
Nanophthalmos 25 tests
Nasopharyngeal carcinoma4 tests
Naxos disease3 tests
NDE1-related microhydranencephaly5 tests
NEK9-related lethal skeletal dysplasia2 tests
Nemaline myopathy 104 tests
Nemaline myopathy 25 tests
Nemaline myopathy 55 tests
Nemaline myopathy 65 tests
Nemaline myopathy 75 tests
Nemaline myopathy 85 tests
Nemaline myopathy 95 tests
Neonatal diabetes mellitus with congenital hypothyroidism5 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome5 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neonatal pseudo-hydrocephalic progeroid syndrome7 tests
Neonatal severe primary hyperparathyroidism2 tests
Neonatal-onset encephalopathy with rigidity and seizures5 tests
Neoplasm of ovary7 tests
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephronophthisis 12 tests
Nephronophthisis 1111 tests
Nephronophthisis 1210 tests
Nephronophthisis 131 test
Nephronophthisis 148 tests
Nephronophthisis 158 tests
Nephronophthisis 165 tests
Nephronophthisis 183 tests
Nephronophthisis 191 test
Nephronophthisis 203 tests
Nephronophthisis 31 test
Nephronophthisis 44 tests
Nephronophthisis 73 tests
Nephronophthisis 94 tests
Nephronophthisis-like nephropathy 15 tests
Nephropathic cystinosis9 tests
Nephrotic syndrome 144 tests
Nephrotic syndrome 153 tests
Nephrotic syndrome 161 test
Nephrotic syndrome, type 103 tests
Nephrotic syndrome, type 111 test
Nephrotic syndrome, type 123 tests
Nephrotic syndrome, type 181 test
Nephrotic syndrome, type 24 tests
Nephrotic syndrome, type 33 tests
Nephrotic syndrome, type 43 tests
Nephrotic syndrome, type 63 tests
Nephrotic syndrome, type 83 tests
Nephrotic syndrome, type 97 tests
Netherton syndrome4 tests
Neu-Laxova syndrome 16 tests
Neu-Laxova syndrome 21 test
Neural tube defect2 tests
Neural tube defects, folate-sensitive10 tests
Neuroblastoma, susceptibility to, 15 tests
Neuroblastoma, susceptibility to, 26 tests
Neuroblastoma, susceptibility to, 31 test
Neurocirculatory asthenia1 test
Neurocutaneous melanocytosis3 tests
Neurodegeneration with ataxia and late-onset optic atrophy3 tests
Neurodegeneration with brain iron accumulation 2B1 test
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 59 tests
Neurodegeneration with brain iron accumulation 61 test
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1 test
Neurodegeneration, childhood-onset, with cerebellar atrophy4 tests
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity3 tests
Neurodevelopmental disorder with absent language and variable seizures3 tests
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter4 tests
Neurodevelopmental disorder with central hypotonia and dysmorphic facies2 tests
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1 test
Neurodevelopmental disorder with dysmorphic facies and variable seizures4 tests
Neurodevelopmental disorder with epilepsy and hemochromatosis3 tests
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination3 tests
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy3 tests
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia2 tests
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements2 tests
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation3 tests
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness2 tests
Neurodevelopmental disorder with hypotonia, seizures, and absent language3 tests
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia4 tests
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures2 tests
Neurodevelopmental disorder with impaired speech and hyperkinetic movements3 tests
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies1 test
Neurodevelopmental disorder with involuntary movements4 tests
Neurodevelopmental disorder with language impairment and behavioral abnormalities3 tests
Neurodevelopmental disorder with microcephaly and dysmorphic facies1 test
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies3 tests
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity3 tests
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination3 tests
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy3 tests
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1 test
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart3 tests
Neurodevelopmental disorder with or without autism or seizures5 tests
Neurodevelopmental disorder with or without early-onset generalized epilepsy3 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
Neurodevelopmental disorder with or without seizures and gait abnormalities3 tests
Neurodevelopmental disorder with poor language and loss of hand skills1 test
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies4 tests
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures4 tests
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies1 test
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
Neurodevelopmental disorder with seizures and speech and walking impairment3 tests
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1 test
Neurodevelopmental disorder with severe motor impairment and absent language3 tests
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures6 tests
Neurodevelopmental disorder with speech impairment and dysmorphic facies1 test
Neurodevelopmental disorder with visual defects and brain anomalies4 tests
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
Neurodevelopmental, jaw, eye, and digital syndrome2 tests
Neuroferritinopathy1 test
Neurofibromatosis, familial spinal6 tests
Neurofibromatosis, type 16 tests
Neurofibromatosis, type 24 tests
Neurofibromatosis-Noonan syndrome13 tests
Neurogenic scapuloperoneal syndrome, Kaeser type5 tests
Neurohypophyseal diabetes insipidus2 tests
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 14 tests
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 23 tests
Neuronal ceroid lipofuscinosis7 tests
Neuronal ceroid lipofuscinosis 18 tests
Neuronal ceroid lipofuscinosis 108 tests
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 134 tests
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 39 tests
Neuronal ceroid lipofuscinosis 510 tests
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant9 tests
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 42 tests
Neuronopathy, distal hereditary motor, autosomal recessive 54 tests
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C3 tests
Neuronopathy, distal hereditary motor, type 2D3 tests
Neuronopathy, distal hereditary motor, type 5A7 tests
Neuronopathy, distal hereditary motor, type 5B7 tests
Neuronopathy, distal hereditary motor, type 5C8 tests
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B1 test
Neurooculocardiogenitourinary syndrome3 tests
Neuropathy, congenital hypomyelinating, 21 test
Neuropathy, congenital hypomyelinating, 35 tests
Neuropathy, hereditary motor and sensory, type 6A1 test
Neuropathy, hereditary motor and sensory, type 6B6 tests
Neuropathy, hereditary sensory and autonomic, type 1A2 tests
Neuropathy, hereditary sensory and autonomic, type 1C4 tests
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B2 tests
Neuropathy, hereditary sensory, type 1D6 tests
Neuropathy, hereditary sensory, type 2C1 test
Neutral 1 amino acid transport defect4 tests
Neutral lipid storage myopathy3 tests
Neutropenia, severe congenital, 1, autosomal dominant4 tests
Neutropenia, severe congenital, 2, autosomal dominant1 test
Neutropenia, severe congenital, 8, autosomal dominant2 tests
Neutropenia, severe congenital, 9, autosomal dominant10 tests
Neutrophil immunodeficiency syndrome3 tests
Nevus comedonicus syndrome1 test
Newfoundland cone-rod dystrophy1 test
Nicolaides-Baraitser syndrome3 tests
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B12 tests
Niemann-Pick disease, type C113 tests
Niemann-Pick disease, type C212 tests
Night blindness, congenital stationary, type1i1 test
Nijmegen breakage syndrome-like disorder6 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities6 tests
Non-ketotic hyperglycinemia9 tests
Non-syndromic X-linked intellectual disability2 tests
Nonarteritic anterior ischemic optic neuropathy, susceptibility to4 tests
Nonimmune chronic idiopathic neutropenia of adults3 tests
Nonpapillary renal cell carcinoma15 tests
Nonpersistence of intestinal lactase3 tests
Nonsyndromic congenital nail disorder 12 tests
Nonsyndromic congenital nail disorder 81 test
Noonan syndrome1 test
Noonan syndrome 111 tests
Noonan syndrome 105 tests
Noonan syndrome 113 tests
Noonan syndrome 131 test
Noonan syndrome 21 test
Noonan syndrome 35 tests
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 64 tests
Noonan syndrome 86 tests
Noonan syndrome 93 tests
Noonan syndrome-like disorder with loose anagen hair 15 tests
Noonan syndrome-like disorder with loose anagen hair 23 tests
Norman-Roberts syndrome1 test
Normophosphatemic familial tumoral calcinosis5 tests
Norum disease1 test
NPHP3-related Meckel-like syndrome1 test
Null pituitary adenoma1 test
Nystagmus 1, congenital, X-linked1 test
O'Donnell-Luria-Rodan syndrome3 tests
Obesity10 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to CEP19 deficiency2 tests
Obesity due to congenital leptin deficiency8 tests
Obesity due to leptin receptor gene deficiency5 tests
Obesity due to pro-opiomelanocortin deficiency1 test
Obesity due to prohormone convertase I deficiency1 test
Obesity due to SIM1 deficiency1 test
Obesity, hyperphagia, and developmental delay2 tests
Obsessive-compulsive disorder1 test
Occipital pachygyria and polymicrogyria2 tests
Occult macular dystrophy1 test
Ocular albinism, type I2 tests
Ocular albinism, type II1 test
Ocular cystinosis1 test
Oculoauricular syndrome2 tests
Oculocerebrofacial syndrome, Kaufman type3 tests
Oculocutaneous albinism type 1B7 tests
Oculocutaneous albinism type 33 tests
Oculocutaneous albinism type 41 test
Oculocutaneous albinism type 63 tests
Oculocutaneous albinism type 72 tests
Oculofaciocardiodental syndrome7 tests
Oculomaxillofacial dysostosis1 test
Oculootoradial syndrome1 test
Oculopharyngeal muscular dystrophy1 test
Oculotrichoanal syndrome1 test
Odonto-onycho-dermal dysplasia1 test
Odontochondrodysplasia 11 test
Ogden syndrome4 tests
Oguchi disease-12 tests
Oligoastrocytoma2 tests
Oligodendroglioma2 tests
Olmsted syndrome 11 test
Olmsted syndrome, X-linked1 test
Oocyte maturation defect 22 tests
Oocyte maturation defect 42 tests
Oocyte maturation defect 52 tests
Oocyte maturation defect 62 tests
Oocyte maturation defect 72 tests
Opsismodysplasia3 tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures4 tests
Optic atrophy 122 tests
Optic atrophy 311 tests
Optic atrophy 51 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine aminotransferase deficiency6 tests
Ornithine carbamoyltransferase deficiency11 tests
Orofacial cleft 116 tests
Orofacial cleft 151 test
Orofacial cleft 52 tests
Orofacial cleft 6, susceptibility to1 test
Orofacial cleft 81 test
Orofacial-digital syndrome IV9 tests
Orofaciodigital syndrome 164 tests
Orofaciodigital syndrome I12 tests
Orofaciodigital syndrome type 144 tests
Orofaciodigital syndrome type 63 tests
Orofaciodigital syndrome V4 tests
Orotic aciduria6 tests
Orthostatic hypotension 11 test
Osteoarthritis susceptibility 24 tests
Osteoarthritis susceptibility 51 test
Osteocraniostenosis2 tests
Osteofibrous dysplasia4 tests
Osteogenesis imperfecta type 105 tests
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 124 tests
Osteogenesis imperfecta type 135 tests
Osteogenesis imperfecta type 142 tests
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 164 tests
Osteogenesis imperfecta type 174 tests
Osteogenesis imperfecta type 55 tests
Osteogenesis imperfecta type 65 tests
Osteogenesis imperfecta type 75 tests
Osteogenesis imperfecta type 85 tests
Osteogenesis imperfecta type 95 tests
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, perinatal lethal8 tests
Osteogenesis imperfecta, type 184 tests
Osteogenesis imperfecta, type 191 test
Osteogenesis imperfecta, type 202 tests
Osteoglophonic dysplasia1 test
Osteopathia striata with cranial sclerosis5 tests
Osteopetrosis with renal tubular acidosis6 tests
Osteopetrosis, autosomal dominant 31 test
Osteoporosis2 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO7 tests
Otitis media, susceptibility to1 test
Oto-palato-digital syndrome, type I8 tests
Oto-palato-digital syndrome, type II1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Ovarian dysgenesis 11 test
Ovarian dysgenesis 22 tests
Ovarian dysgenesis 32 tests
Ovarian dysgenesis 63 tests
Ovarian dysgenesis 71 test
Ovarian hyperstimulation syndrome2 tests
Overhydrated hereditary stomatocytosis1 test
Oxoglutaricaciduria3 tests
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma-deafness syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
Pancreatic agenesis 23 tests
Pancreatic cancer, susceptibility to, 212 tests
Pancreatic cancer, susceptibility to, 37 tests
Pancreatic cancer, susceptibility to, 412 tests
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome3 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome3 tests
Pancreatic insulin-producing neuroendocrine tumor1 test
Pancreatic triacylglycerol lipase deficiency1 test
Pancytopenia due to IKZF1 mutations3 tests
Pancytopenia-developmental delay syndrome2 tests
Papillary renal cell carcinoma type 13 tests
Papillon-Lefèvre syndrome5 tests
Paragangliomas 13 tests
Paragangliomas 25 tests
Paragangliomas 33 tests
Paragangliomas 43 tests
Paragangliomas 52 tests
Paramyotonia congenita of Von Eulenburg1 test
Parastremmatic dwarfism1 test
Parathyroid carcinoma2 tests
Parietal foramina 21 test
Parkinson disease 11, autosomal dominant, susceptibility to4 tests
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Parkinson disease 172 tests
Parkinson disease 18, autosomal dominant, susceptibility to3 tests
Parkinson disease 22, autosomal dominant3 tests
Parkinson disease 24, autosomal dominant, susceptibility to1 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinson disease, late-onset9 tests
Parkinsonian-pyramidal syndrome3 tests
Parkinsonism-dystonia 3, childhood-onset5 tests
Paroxysmal extreme pain disorder1 test
Paroxysmal nocturnal hemoglobinuria 24 tests
Paroxysmal nonkinesigenic dyskinesia 14 tests
Partial androgen insensitivity syndrome3 tests
Partial chromosome Y deletion1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Partington syndrome1 test
Patent ductus arteriosus 21 test
Patterned macular dystrophy 11 test
Patterned macular dystrophy 23 tests
PCWH syndrome1 test
Peeling skin syndrome 11 test
Peeling skin syndrome 42 tests
Peeling skin syndrome 52 tests
Peeling skin syndrome 62 tests
Peeling skin syndrome type A2 tests
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
PEHO-like syndrome3 tests
Pelger-Huet-like anomaly and episodic fever with abdominal pain1 test
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease1 test
Pelviscapular dysplasia5 tests
Pendred syndrome1 test
PERCHING syndrome1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Periodontitis, aggressive 11 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive4 tests
Periventricular nodular heterotopia 73 tests
Perlman syndrome2 tests
Permanent neonatal diabetes mellitus 11 test
Peroxisome biogenesis disorder 10B6 tests
Peroxisome biogenesis disorder 11A (Zellweger)7 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)7 tests
Peroxisome biogenesis disorder 13A (Zellweger)7 tests
Peroxisome biogenesis disorder 14B6 tests
Peroxisome biogenesis disorder 1A (Zellweger)3 tests
Peroxisome biogenesis disorder 1B3 tests
Peroxisome biogenesis disorder 2A (Zellweger)9 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)10 tests
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)13 tests
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6B11 tests
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B11 tests
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B7 tests
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 11 test
Perrault syndrome 25 tests
Perrault syndrome 38 tests
Perrault syndrome 47 tests
Perrault syndrome 51 test
Perrault syndrome 62 tests
Perry syndrome1 test
Persistent hyperplastic primary vitreous, autosomal recessive1 test
Persistent Mullerian duct syndrome3 tests
Peters plus syndrome5 tests
Pettigrew syndrome5 tests
Peutz-Jeghers syndrome6 tests
Pfeiffer syndrome2 tests
PGM1-congenital disorder of glycosylation9 tests
PHARC syndrome5 tests
Phenylketonuria9 tests
Pheochromocytoma15 tests
PHGDH deficiency1 test
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4 tests
Phosphate transport defect1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
Phosphoribosylpyrophosphate synthetase superactivity8 tests
Phytanic acid storage disease10 tests
Pick disease2 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome6 tests
Piebaldism9 tests
Pierpont syndrome2 tests
Pierson syndrome4 tests
Pigmentary pallidal degeneration9 tests
Pigmentary retinal dystrophy9 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented nodular adrenocortical disease, primary, 22 tests
Pigmented nodular adrenocortical disease, primary, 34 tests
Pigmented paravenous retinochoroidal atrophy5 tests
Pilarowski-Bjornsson syndrome3 tests
Pili torti-deafness syndrome1 test
Pilomatrixoma2 tests
Pilomyxoid astrocytoma1 test
Pitt-Hopkins syndrome5 tests
Pitt-Hopkins-like syndrome 24 tests
Pituitary adenoma 3, multiple types3 tests
Pituitary adenoma 5, multiple types3 tests
Pituitary adenoma, growth hormone-secreting, 21 test
Pituitary dependent hypercortisolism4 tests
Pituitary hormone deficiency, combined, 16 tests
Pituitary hormone deficiency, combined, 26 tests
Pituitary hormone deficiency, combined, 66 tests
Pituitary stalk interruption syndrome2 tests
Pityriasis rubra pilaris2 tests
Plasminogen deficiency, type I2 tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease3 tests
Platelet-type bleeding disorder 101 test
Platelet-type bleeding disorder 111 test
Platelet-type bleeding disorder 153 tests
Platelet-type bleeding disorder 164 tests
Platelet-type bleeding disorder 173 tests
Platelet-type bleeding disorder 203 tests
Platelet-type bleeding disorder 82 tests
Platyspondylic dysplasia, Torrance type1 test
Pleuropulmonary blastoma3 tests
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation12 tests
Poikiloderma with neutropenia3 tests
Poirier-Bienvenu neurodevelopmental syndrome3 tests
Polycystic kidney disease 26 tests
Polycystic kidney disease 3 with or without polycystic liver disease3 tests
Polycystic kidney disease 46 tests
Polycystic kidney disease 53 tests
Polycystic kidney disease 6 with or without polycystic liver disease3 tests
Polycystic kidney disease, adult type3 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 16 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 25 tests
Polycystic liver disease 13 tests
Polycystic liver disease 23 tests
Polycystic liver disease 3 with or without kidney cysts2 tests
Polydactyly, postaxial, type A11 test
Polyendocrine-polyneuropathy syndrome1 test
Polyglandular autoimmune syndrome, type 14 tests
Polyglucosan body myopathy type 17 tests
Polyglucosan body myopathy type 21 test
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome7 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Polyposis syndrome, hereditary mixed, 24 tests
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal2 tests
Polysyndactyly 41 test
Pontocerebellar hypoplasia type 105 tests
Pontocerebellar hypoplasia type 1A8 tests
Pontocerebellar hypoplasia type 1B10 tests
Pontocerebellar hypoplasia type 2A7 tests
Pontocerebellar hypoplasia type 2B8 tests
Pontocerebellar hypoplasia type 2C6 tests
Pontocerebellar hypoplasia type 2D5 tests
Pontocerebellar hypoplasia type 2E5 tests
Pontocerebellar hypoplasia type 47 tests
Pontocerebellar hypoplasia type 53 tests
Pontocerebellar hypoplasia type 611 tests
Pontocerebellar hypoplasia type 75 tests
Pontocerebellar hypoplasia type 86 tests
Pontocerebellar hypoplasia type 97 tests
Pontocerebellar hypoplasia, type 114 tests
Pontocerebellar hypoplasia, type 1210 tests
Pontocerebellar hypoplasia, type 1C3 tests
Pontocerebellar hypoplasia, type 1D4 tests
Pontocerebellar hypoplasia, type 1E4 tests
Pontocerebellar hypoplasia, type 2F3 tests
Porencephaly 27 tests
Porencephaly-microcephaly-bilateral congenital cataract syndrome6 tests
Porokeratosis 3, disseminated superficial actinic type3 tests
Porphobilinogen synthase deficiency6 tests
Portal hypertension, noncirrhotic, 11 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome6 tests
Posterior column ataxia-retinitis pigmentosa syndrome6 tests
Potassium-aggravated myotonia1 test
PPARG-related familial partial lipodystrophy8 tests
Prader-Willi syndrome2 tests
Prader-Willi syndrome due to imprinting mutation1 test
Precocious puberty, central, 22 tests
Predisposition to invasive fungal disease due to CARD9 deficiency2 tests
Pregnancy loss, recurrent, susceptibility to, 11 test
Pregnancy loss, recurrent, susceptibility to, 21 test
Preimplantation embryonic lethality 12 tests
Premature ovarian failure 13 tests
Premature ovarian failure 111 test
Premature ovarian failure 152 tests
Premature ovarian failure 172 tests
Premature ovarian failure 36 tests
Premature ovarian failure 71 test
Preterm premature rupture of membranes1 test
Pretibial dystrophic epidermolysis bullosa1 test
Primary CD59 deficiency6 tests
Primary ciliary dyskinesia 108 tests
Primary ciliary dyskinesia 116 tests
Primary ciliary dyskinesia 126 tests
Primary ciliary dyskinesia 138 tests
Primary ciliary dyskinesia 148 tests
Primary ciliary dyskinesia 1510 tests
Primary ciliary dyskinesia 168 tests
Primary ciliary dyskinesia 178 tests
Primary ciliary dyskinesia 186 tests
Primary ciliary dyskinesia 196 tests
Primary ciliary dyskinesia 27 tests
Primary ciliary dyskinesia 207 tests
Primary ciliary dyskinesia 216 tests
Primary ciliary dyskinesia 225 tests
Primary ciliary dyskinesia 236 tests
Primary ciliary dyskinesia 246 tests
Primary ciliary dyskinesia 257 tests
Primary ciliary dyskinesia 268 tests
Primary ciliary dyskinesia 275 tests
Primary ciliary dyskinesia 286 tests
Primary ciliary dyskinesia 294 tests
Primary ciliary dyskinesia 310 tests
Primary ciliary dyskinesia 306 tests
Primary ciliary dyskinesia 323 tests
Primary ciliary dyskinesia 334 tests
Primary ciliary dyskinesia 342 tests
Primary ciliary dyskinesia 355 tests
Primary ciliary dyskinesia 57 tests
Primary ciliary dyskinesia 68 tests
Primary ciliary dyskinesia 78 tests
Primary ciliary dyskinesia 910 tests
Primary coenzyme Q10 deficiency 85 tests
Primary erythromelalgia5 tests
Primary failure of tooth eruption1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary familial polycythemia due to EPO receptor mutation1 test
Primary hyperoxaluria type 34 tests
Primary hyperoxaluria, type I7 tests
Primary hyperoxaluria, type II4 tests
Primary hypomagnesemia7 tests
Primary immunodeficiency syndrome due to p14 deficiency3 tests
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency5 tests
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection4 tests
Primary mediastinal large B-cell lymphoma1 test
Primary myelofibrosis3 tests
Primary open angle glaucoma1 test
Primrose syndrome5 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive bulbar palsy of childhood1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome3 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 29 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 410 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 25 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 39 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 53 tests
Progressive familial heart block type IB2 tests
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 25 tests
Progressive familial intrahepatic cholestasis type 31 test
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive myoclonic epilepsy type 36 tests
Progressive myoclonic epilepsy type 65 tests
Progressive myoclonic epilepsy type 75 tests
Progressive myoclonic epilepsy type 83 tests
Progressive myositis ossificans2 tests
Progressive osseous heteroplasia2 tests
Progressive pseudorheumatoid dysplasia3 tests
Progressive retinal dystrophy due to retinol transport defect3 tests
Progressive scapulohumeroperoneal distal myopathy1 test
Progressive sclerosing poliodystrophy14 tests
Progressive supranuclear palsy-parkinsonism syndrome4 tests
Prolactin-producing pituitary gland adenoma1 test
Prolidase deficiency5 tests
Proliferative vitreoretinopathy2 tests
Proline dehydrogenase deficiency6 tests
Properdin deficiency, X-linked2 tests
Propionic acidemia10 tests
Prostate cancer, hereditary, 11 test
Prostate cancer, hereditary, 21 test
Prostate cancer, hereditary, 92 tests
Protan defect1 test
Proteasome-associated autoinflammatory syndrome 12 tests
Proteasome-associated autoinflammatory syndrome 21 test
Proteasome-associated autoinflammatory syndrome 32 tests
Protein-losing enteropathy1 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
Proteus syndrome2 tests
Protoplasmic astrocytoma2 tests
Protoporphyria, erythropoietic, 16 tests
Proximal myopathy with extrapyramidal signs6 tests
Proximal symphalangism 1A4 tests
Prune belly syndrome1 test
PSAT deficiency4 tests
Pseudo von Willebrand disease1 test
Pseudo-Hurler polydystrophy1 test
Pseudo-TORCH syndrome 15 tests
Pseudo-TORCH syndrome 21 test
Pseudo-TORCH syndrome 31 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome5 tests
Pseudoexfoliation glaucoma1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B3 tests
Pseudohypoaldosteronism type 2C6 tests
Pseudohypoaldosteronism type 2D3 tests
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism type 1B2 tests
Pseudohypoparathyroidism type 1C2 tests
Pseudohypoparathyroidism type I A2 tests
Pseudopseudohypoparathyroidism2 tests
Pseudoxanthoma elasticum, forme fruste1 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis 21 test
Psychomotor retardation, epilepsy, and craniofacial dysmorphism4 tests
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency3 tests
PULMONARY ALVEOLAR MICROLITHIASIS2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
Pulmonary hypertension, neonatal, susceptibility to6 tests
Pulmonary hypertension, primary, 11 test
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 43 tests
Pulmonary venoocclusive disease 13 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4 tests
Pure gonadal dysgenesis 46,XY1 test
Purine-nucleoside phosphorylase deficiency3 tests
PYCR1-related de Barsy syndrome7 tests
Pyknodysostosis7 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyogenic bacterial infections due to MyD88 deficiency2 tests
Pyridoxal phosphate-responsive seizures7 tests
Pyridoxine-dependent epilepsy7 tests
Pyropoikilocytosis, hereditary1 test
Pyruvate carboxylase deficiency10 tests
Pyruvate dehydrogenase E1-alpha deficiency11 tests
Pyruvate dehydrogenase E1-beta deficiency10 tests
Pyruvate dehydrogenase E2 deficiency8 tests
Pyruvate dehydrogenase E3 deficiency9 tests
Pyruvate dehydrogenase E3-binding protein deficiency9 tests
Pyruvate dehydrogenase phosphatase deficiency8 tests
Pyruvate kinase deficiency of red cells7 tests
Pyruvate kinase hyperactivity1 test
Quebec platelet disorder1 test
RAB23-related Carpenter syndrome4 tests
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome4 tests
Radioulnar synostosis3 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 13 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 23 tests
Rafiq syndrome6 tests
Rajab interstitial lung disease with brain calcifications 14 tests
Rapp-Hodgkin ectodermal dysplasia syndrome1 test
Rauch-Steindl syndrome1 test
Recessive dystrophic epidermolysis bullosa5 tests
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome4 tests
Recurrent Neisseria infections due to factor D deficiency3 tests
Regressive spondylometaphyseal dysplasia5 tests
Renal carnitine transport defect12 tests
Renal coloboma syndrome6 tests
Renal cysts and diabetes syndrome2 tests
Renal dysplasia, cystic, susceptibility to2 tests
Renal hypodysplasia/aplasia 13 tests
Renal hypodysplasia/aplasia 33 tests
Renal hypomagnesemia 26 tests
Renal hypomagnesemia 44 tests
Renal hypomagnesemia 5 with ocular involvement6 tests
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness6 tests
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss5 tests
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal tubular dysgenesis of genetic origin9 tests
Renal-hepatic-pancreatic dysplasia 110 tests
Renal-hepatic-pancreatic dysplasia 21 test
Renpenning syndrome5 tests
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Restrictive dermopathy 21 test
Reticular dysgenesis5 tests
Reticulate acropigmentation of Kitamura1 test
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 42 tests
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 104 tests
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 121 test
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 141 test
Retinitis pigmentosa 172 tests
Retinitis pigmentosa 182 tests
Retinitis pigmentosa 191 test
Retinitis pigmentosa 22 tests
Retinitis pigmentosa 201 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 263 tests
Retinitis pigmentosa 271 test
Retinitis pigmentosa 283 tests
Retinitis pigmentosa 31 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 312 tests
Retinitis pigmentosa 332 tests
Retinitis pigmentosa 351 test
Retinitis pigmentosa 362 tests
Retinitis pigmentosa 384 tests
Retinitis pigmentosa 397 tests
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 425 tests
Retinitis pigmentosa 433 tests
Retinitis pigmentosa 442 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 464 tests
Retinitis pigmentosa 471 test
Retinitis pigmentosa 482 tests
Retinitis pigmentosa 492 tests
Retinitis pigmentosa 505 tests
Retinitis pigmentosa 5111 tests
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 562 tests
Retinitis pigmentosa 572 tests
Retinitis pigmentosa 582 tests
Retinitis pigmentosa 596 tests
Retinitis pigmentosa 602 tests
Retinitis pigmentosa 612 tests
Retinitis pigmentosa 622 tests
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 682 tests
Retinitis pigmentosa 78 tests
Retinitis pigmentosa 702 tests
Retinitis pigmentosa 711 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 737 tests
Retinitis pigmentosa 7410 tests
Retinitis pigmentosa 752 tests
Retinitis pigmentosa 768 tests
Retinitis pigmentosa 772 tests
Retinitis pigmentosa 781 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 801 test
Retinitis pigmentosa 814 tests
Retinitis pigmentosa 831 test
Retinitis pigmentosa 842 tests
Retinitis pigmentosa 87 with choroidal involvement5 tests
Retinitis pigmentosa 882 tests
Retinitis pigmentosa 931 test
Retinitis pigmentosa and erythrocytic microcytosis1 test
Retinitis pigmentosa with or without situs inversus2 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome3 tests
Retinoblastoma5 tests
Rett syndrome2 tests
Rett syndrome, congenital variant4 tests
Revesz syndrome1 test
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation6 tests
Rh-null, regulator type2 tests
Rhabdoid tumor predisposition syndrome 16 tests
Rhabdoid tumor predisposition syndrome 28 tests
Rhabdomyosarcoma, embryonal, 23 tests
Rheumatoid arthritis2 tests
Rhizomelic chondrodysplasia punctata type 115 tests
Rhizomelic chondrodysplasia punctata type 210 tests
Rhizomelic chondrodysplasia punctata type 310 tests
Rhizomelic chondrodysplasia punctata type 51 test
RHYNS syndrome1 test
RIDDLE syndrome4 tests
Rienhoff syndrome1 test
Right atrial isomerism3 tests
RIN2 syndrome4 tests
Ring dermoid of cornea1 test
Rippling muscle disease 21 test
Ritscher-Schinzel syndrome 16 tests
Ritscher-Schinzel syndrome 23 tests
Roberts-SC phocomelia syndrome6 tests
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction11 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome10 tests
Rotor syndrome9 tests
Roussy-Lévy syndrome6 tests
Rubinstein-Taybi syndrome due to CREBBP mutations9 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Sacral defect with anterior meningocele1 test
Saethre-Chotzen syndrome2 tests
Saldino-Mainzer syndrome6 tests
Salla disease9 tests
Sandhoff disease14 tests
Sarcotubular myopathy1 test
Scalp-ear-nipple syndrome1 test
Scapuloperoneal spinal muscular atrophy1 test
Schaaf-Yang syndrome6 tests
SchC6pf-Schulz-Passarge syndrome2 tests
Schimke immuno-osseous dysplasia5 tests
Schinzel phocomelia syndrome5 tests
Schinzel-Giedion syndrome1 test
Schizencephaly7 tests
Schizophrenia4 tests
Schizophrenia 181 test
Schizophrenia 61 test
Schneckenbecken dysplasia4 tests
Schuurs-Hoeijmakers syndrome2 tests
Schwannomatosis 15 tests
Schwannomatosis 21 test
Schwartz-Jampel syndrome type 11 test
Sclerosteosis 12 tests
Sclerosteosis 27 tests
SCOTT SYNDROME2 tests
Sea-blue histiocyte syndrome1 test
Seborrheic keratosis1 test
Seckel syndrome 17 tests
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 58 tests
Seckel syndrome 64 tests
Seckel syndrome 81 test
Seckel syndrome 92 tests
Seizures, benign familial infantile, 26 tests
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 54 tests
Seizures, benign familial neonatal, 15 tests
Seizures, benign familial neonatal, 24 tests
Seizures-scoliosis-macrocephaly syndrome4 tests
Selective pituitary resistance to thyroid hormone4 tests
Senior-Loken syndrome 113 tests
Senior-Loken syndrome 54 tests
Senior-Loken syndrome 65 tests
Senior-Loken syndrome 79 tests
Senior-Loken syndrome 85 tests
Senior-Loken syndrome 98 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Septo-optic dysplasia sequence8 tests
SERKAL syndrome2 tests
Sessile serrated polyposis cancer syndrome4 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe combined immunodeficiency due to CARD11 deficiency1 test
Severe combined immunodeficiency due to CARMIL2 deficiency1 test
Severe combined immunodeficiency due to CD70 deficiency2 tests
Severe combined immunodeficiency due to CORO1A deficiency2 tests
Severe combined immunodeficiency due to CTPS1 deficiency3 tests
Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
Severe combined immunodeficiency due to IKK2 deficiency1 test
Severe combined immunodeficiency due to LAT deficiency5 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency10 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5 tests
Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
Severe early-childhood-onset retinal dystrophy3 tests
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency6 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome4 tests
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome3 tests
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3 tests
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome3 tests
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome5 tests
Severe myoclonic epilepsy in infancy9 tests
Severe neonatal-onset encephalopathy with microcephaly2 tests
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked mitochondrial encephalomyopathy1 test
Severe X-linked myotubular myopathy7 tests
Short QT syndrome type 32 tests
Short stature due to partial GHR deficiency6 tests
Short stature with microcephaly and distinctive facies4 tests
Short stature with nonspecific skeletal abnormalities1 test
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11 test
Short stature, microcephaly, and endocrine dysfunction2 tests
Short stature-brachydactyly-obesity-global developmental delay syndrome4 tests
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome6 tests
SHORT syndrome4 tests
Short-rib thoracic dysplasia 10 with or without polydactyly9 tests
Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
Short-rib thoracic dysplasia 13 with or without polydactyly4 tests
Short-rib thoracic dysplasia 14 with polydactyly4 tests
Short-rib thoracic dysplasia 15 with polydactyly4 tests
Short-rib thoracic dysplasia 18 with polydactyly2 tests
Short-rib thoracic dysplasia 19 with or without polydactyly3 tests
Short-rib thoracic dysplasia 20 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly5 tests
Short-rib thoracic dysplasia 8 with or without polydactyly4 tests
SHOX-related short stature2 tests
Shprintzen-Goldberg syndrome5 tests
Shwachman-Diamond syndrome 111 tests
Shwachman-Diamond syndrome 23 tests
Sialic acid storage disease, severe infantile type2 tests
Sialidosis type 26 tests
Sialuria10 tests
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to2 tests
Sideroblastic anemia 26 tests
Sideroblastic anemia 36 tests
Sifrim-Hitz-Weiss syndrome3 tests
Silent pituitary adenoma1 test
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome type 21 test
SIN3A-related intellectual disability syndrome due to a point mutation3 tests
Singleton-Merten syndrome 11 test
Singleton-Merten syndrome 22 tests
Sinoatrial node dysfunction and deafness5 tests
Sitosterolemia 16 tests
Sitosterolemia 26 tests
Six2-related frontonasal dysplasia2 tests
Sjögren-Larsson syndrome8 tests
Skeletal dysplasia, mild, with joint laxity and advanced bone age2 tests
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome3 tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES2 tests
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN1 test
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN1 test
Skin/hair/eye pigmentation, variation in, 111 test
Skin/hair/eye pigmentation, variation in, 53 tests
Skraban-Deardorff syndrome3 tests
SLC35A1-congenital disorder of glycosylation6 tests
SLC35A2-congenital disorder of glycosylation6 tests
SLC39A8-CDG3 tests
Small cell lung carcinoma3 tests
Smith-Lemli-Opitz syndrome12 tests
Smith-Magenis syndrome6 tests
Smith-McCort dysplasia 18 tests
Smoking as a quantitative trait locus 33 tests
Sneddon syndrome3 tests
Snijders Blok-Campeau syndrome3 tests
Snowflake vitreoretinal degeneration1 test
Sodium serum level quantitative trait locus 11 test
Somatotroph adenoma2 tests
Sorsby fundus dystrophy1 test
Sotos syndrome8 tests
Southeast Asian ovalocytosis1 test
Spastic ataxia 17 tests
Spastic ataxia 24 tests
Spastic ataxia 31 test
Spastic ataxia 46 tests
Spastic ataxia 56 tests
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy4 tests
Spastic paraplegia 52, autosomal recessive6 tests
Spastic paraplegia 80, autosomal dominant5 tests
Spastic paraplegia 81, autosomal recessive5 tests
Spastic paraplegia 82, autosomal recessive3 tests
Spastic paraplegia 85, autosomal recessive1 test
Spastic paraplegia, intellectual disability, nystagmus, and obesity6 tests
Spastic paraplegia-severe developmental delay-epilepsy syndrome6 tests
Spastic tetraplegia and axial hypotonia, progressive2 tests
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome5 tests
Specific granule deficiency 12 tests
Specific granule deficiency 21 test
Spermatogenic failure 172 tests
Spermatogenic failure 181 test
Spermatogenic failure 251 test
Spermatogenic failure 72 tests
Spermatogenic failure 721 test
Spermatogenic failure 82 tests
Spermatogenic failure 91 test
Spermatogenic failure, Y-linked, 23 tests
Spermatogenic failures 501 test
Sphingolipid activator protein 1 deficiency8 tests
Spinal muscular atrophy with congenital bone fractures 23 tests
Spinal muscular atrophy, distal, autosomal recessive, 61 test
Spinal muscular atrophy, infantile, James type1 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant7 tests
Spinal muscular atrophy, type II2 tests
Spinal muscular atrophy, type IV4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
Spinocerebellar ataxia 441 test
Spinocerebellar ataxia 454 tests
Spinocerebellar ataxia 475 tests
Spinocerebellar ataxia 483 tests
Spinocerebellar ataxia 495 tests
Spinocerebellar ataxia 73 tests
Spinocerebellar ataxia type 13 tests
Spinocerebellar ataxia type 103 tests
Spinocerebellar ataxia type 114 tests
Spinocerebellar ataxia type 124 tests
Spinocerebellar ataxia type 134 tests
Spinocerebellar ataxia type 145 tests
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/226 tests
Spinocerebellar ataxia type 24 tests
Spinocerebellar ataxia type 214 tests
Spinocerebellar ataxia type 235 tests
Spinocerebellar ataxia type 251 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 274 tests
Spinocerebellar ataxia type 284 tests
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 313 tests
Spinocerebellar ataxia type 347 tests
Spinocerebellar ataxia type 354 tests
Spinocerebellar ataxia type 363 tests
Spinocerebellar ataxia type 374 tests
Spinocerebellar ataxia type 384 tests
Spinocerebellar ataxia type 404 tests
Spinocerebellar ataxia type 425 tests
Spinocerebellar ataxia type 54 tests
Spinocerebellar ataxia type 62 tests
Spinocerebellar ataxia type 83 tests
Spinocerebellar ataxia, autosomal recessive 232 tests
Spinocerebellar ataxia, autosomal recessive 243 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 14 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 37 tests
Split hand-foot malformation 12 tests
Split hand-foot malformation 1 with sensorineural hearing loss1 test
Split hand-foot malformation 41 test
Spondylo-megaepiphyseal-metaphyseal dysplasia3 tests
Spondylo-ocular syndrome1 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 1, autosomal recessive6 tests
Spondylocostal dysostosis 2, autosomal recessive4 tests
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 4, autosomal recessive1 test
Spondylocostal dysostosis 52 tests
Spondylocostal dysostosis 6, autosomal recessive2 tests
Spondyloenchondrodysplasia with immune dysregulation5 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 33 tests
Spondyloepimetaphyseal dysplasia with multiple dislocations4 tests
Spondyloepimetaphyseal dysplasia, Bieganski type10 tests
Spondyloepimetaphyseal dysplasia, Genevieve type1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepimetaphyseal dysplasia, Missouri type4 tests
Spondyloepimetaphyseal dysplasia, PAPSS2 type4 tests
Spondyloepimetaphyseal dysplasia, Strudwick type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
Spondyloepiphyseal dysplasia congenita8 tests
Spondyloepiphyseal dysplasia with congenital joint dislocations4 tests
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia - Sutcliffe type3 tests
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondyloperipheral dysplasia1 test
Spongiform encephalopathy with neuropsychiatric features2 tests
Spongy degeneration of central nervous system5 tests
SSR4-congenital disorder of glycosylation5 tests
Stankiewicz-Isidor syndrome3 tests
Stapes ankylosis with broad thumbs and toes1 test
Stargardt disease 31 test
Stargardt disease 46 tests
STAT3-related early-onset multisystem autoimmune disease8 tests
Steinert myotonic dystrophy syndrome4 tests
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Stickler syndrome type 11 test
Stickler syndrome type 26 tests
Stickler syndrome, type 45 tests
Stiff skin syndrome2 tests
STING-associated vasculopathy with onset in infancy4 tests
Stormorken syndrome1 test
Striatal degeneration, autosomal dominant 24 tests
Stromme syndrome6 tests
Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
STT3A-congenital disorder of glycosylation4 tests
STT3B-congenital disorder of glycosylation3 tests
Sturge-Weber syndrome2 tests
Stuttering, familial persistent, 11 test
Stüve-Wiedemann syndrome 15 tests
Succinate-semialdehyde dehydrogenase deficiency8 tests
Succinyl-CoA acetoacetate transferase deficiency6 tests
Sucrase-isomaltase deficiency3 tests
SUDDEN INFANT DEATH SYNDROME3 tests
Sudden infant death-dysgenesis of the testes syndrome3 tests
Sulfite oxidase deficiency6 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B5 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C5 tests
Supranuclear palsy, progressive, 11 test
Supravalvar aortic stenosis6 tests
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 23 tests
Surfactant metabolism dysfunction, pulmonary, 53 tests
Susceptibility to HIV infection4 tests
Susceptibility to mononeuropathy of the median nerve, mild1 test
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Sweeney-Cox syndrome3 tests
Symmetrical dyschromatosis of extremities10 tests
Symphalangism, proximal, 1B5 tests
Symphalangism-brachydactyly syndrome1 test
Syndromic microphthalmia type 51 test
Syndromic multisystem autoimmune disease due to ITCH deficiency3 tests
Syndromic X-linked intellectual disability 143 tests
Syndromic X-linked intellectual disability 943 tests
Syndromic X-linked intellectual disability Claes-Jensen type6 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Najm type1 test
Syndromic X-linked intellectual disability Nascimento type4 tests
Syndromic X-linked intellectual disability Raymond type3 tests
Syndromic X-linked intellectual disability Siderius type4 tests
Syndromic X-linked intellectual disability Snyder type4 tests
Synpolydactyly type 21 test
Systemic lupus erythematosus10 tests
Systemic lupus erythematosus, susceptibility to, 21 test
Systemic lupus erythematosus, susceptibility to, 94 tests
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency4 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy2 tests
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
Tall stature-scoliosis-macrodactyly of the great toes syndrome6 tests
Tangier disease5 tests
TARP syndrome5 tests
Tarsal-carpal coalition syndrome1 test
Tatton-Brown-Rahman overgrowth syndrome3 tests
Tay-Sachs disease21 tests
Tay-Sachs disease, variant AB5 tests
TCF12-related craniosynostosis1 test
Teebi hypertelorism syndrome 13 tests
Teebi hypertelorism syndrome 21 test
Telangiectasia, hereditary hemorrhagic, type 14 tests
Telangiectasia, hereditary hemorrhagic, type 26 tests
Telangiectasia, hereditary hemorrhagic, type 53 tests
Temple-Baraitser syndrome4 tests
Temtamy preaxial brachydactyly syndrome5 tests
Temtamy syndrome4 tests
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Testosterone 17-beta-dehydrogenase deficiency3 tests
Tetralogy of Fallot13 tests
TFRC-related combined immunodeficiency2 tests
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 14 tests
Thrombocythemia 25 tests
Thrombocytopenia 15 tests
Thrombocytopenia 24 tests
Thrombocytopenia 32 tests
Thrombocytopenia 44 tests
Thrombocytopenia 55 tests
Thrombocytopenia 61 test
Thrombocytopenia, anemia, and myelofibrosis2 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to activated protein C resistance6 tests
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive3 tests
Thrombophilia due to protein S deficiency, autosomal dominant2 tests
Thrombophilia due to thrombin defect10 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator2 tests
Thrombophilia, X-linked, due to factor 8 defect2 tests
Thrombophilia, X-linked, due to factor 9 defect4 tests
Thyroglobulin synthesis defect2 tests
Thyroid cancer, nonmedullary, 11 test
Thyroid cancer, nonmedullary, 24 tests
Thyroid dyshormonogenesis 61 test
Thyroid hormone metabolism, abnormal 14 tests
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyroid hormone resistance, generalized, autosomal recessive1 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Tibial muscular dystrophy2 tests
Tietz syndrome1 test
Timothy syndrome4 tests
TMEM165-congenital disorder of glycosylation5 tests
TMEM199-CDG3 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tobacco addiction, susceptibility to2 tests
Tooth agenesis, selective, 11 test
Tooth agenesis, selective, 32 tests
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, X-linked, 11 test
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 62 tests
Tourette syndrome1 test
Townes-Brocks syndrome 19 tests
Transcobalamin II deficiency5 tests
Transferrin serum level quantitative trait locus 21 test
Transient bullous dermolysis of the newborn1 test
Transient infantile hypertriglyceridemia and hepatosteatosis2 tests
Treacher Collins syndrome 15 tests
Treacher Collins syndrome 24 tests
Treacher Collins syndrome 37 tests
Tremor, hereditary essential, 11 test
Tremor, hereditary essential, 41 test
Tremor, hereditary essential, 53 tests
Tricho-dento-osseous syndrome3 tests
Trichoepithelioma, multiple familial, 11 test
Trichohepatoenteric syndrome 14 tests
Trichohepatoenteric syndrome 22 tests
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
Trichorhinophalangeal dysplasia type I1 test
Trichorhinophalangeal syndrome, type III5 tests
Trichothiodystrophy 1, photosensitive7 tests
Trichothiodystrophy 2, photosensitive2 tests
Trichothiodystrophy 3, photosensitive2 tests
Trichothiodystrophy 4, nonphotosensitive2 tests
Trichothiodystrophy 5, nonphotosensitive3 tests
Trichothiodystrophy 8, nonphotosensitive1 test
Trichothiodystrophy 9, nonphotosensitive1 test
Trichotillomania1 test
Triglyceride storage disease with ichthyosis6 tests
Trigonocephaly 11 test
Trigonocephaly 21 test
Trimethylaminuria1 test
Triosephosphate isomerase deficiency4 tests
Tropical pancreatitis2 tests
Troyer syndrome6 tests
Tuberous sclerosis 113 tests
Tuberous sclerosis 212 tests
Tubulointerstitial kidney disease, autosomal dominant, 23 tests
Tumor predisposition syndrome 32 tests
Tumoral calcinosis, hyperphosphatemic, familial, 13 tests
Tumoral calcinosis, hyperphosphatemic, familial, 21 test
Type 1 diabetes mellitus 101 test
Type 1 diabetes mellitus 124 tests
Type 1 diabetes mellitus 21 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus24 tests
Type A2 brachydactyly4 tests
Type I complement component 8 deficiency2 tests
Type II complement component 8 deficiency2 tests
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I11 tests
Tyrosinemia type II5 tests
Tyrosinemia type III5 tests
UDPglucose-4-epimerase deficiency6 tests
Ulerythema ophryogenesis3 tests
Ullrich congenital muscular dystrophy 1A7 tests
Ullrich congenital muscular dystrophy 21 test
Ulnar-mammary syndrome7 tests
Unilateral renal agenesis2 tests
Unverricht-Lundborg syndrome6 tests
Upshaw-Schulman syndrome4 tests
Urinary bladder, atony of1 test
Urocanate hydratase deficiency3 tests
Urofacial syndrome 23 tests
Urofacial syndrome type 13 tests
Uruguay Faciocardiomusculoskeletal syndrome4 tests
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D3 tests
Usher syndrome type 1F7 tests
Usher syndrome type 1G3 tests
Usher syndrome type 1J1 test
Usher syndrome type 2A3 tests
Usher syndrome type 2C5 tests
Usher syndrome type 2D3 tests
Usher syndrome type 3A4 tests
Usher syndrome type 3B1 test
Usher syndrome, type 1M1 test
Usher syndrome, type 42 tests
UV-sensitive syndrome 11 test
UV-sensitive syndrome 25 tests
UV-sensitive syndrome 31 test
Uveal coloboma-cleft lip and palate-intellectual disability1 test
Uveal melanoma1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Van der Woude syndrome 11 test
Van der Woude syndrome 22 tests
Van Maldergem syndrome 11 test
Van Maldergem syndrome 26 tests
Vanishing white matter disease13 tests
Variegate porphyria8 tests
Vasculitis due to ADA2 deficiency1 test
Velocardiofacial syndrome1 test
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2 tests
Ventricular fibrillation, paroxysmal familial, 21 test
Ventricular fibrillation, paroxysmal familial, type 11 test
Ventricular septal defect 21 test
Ventricular septal defect 32 tests
Ventriculomegaly and arthrogryposis1 test
Ventriculomegaly-cystic kidney disease3 tests
Vertebral anomalies and variable endocrine and T-cell dysfunction1 test
Vertebral, cardiac, renal, and limb defects syndrome 13 tests
Vertebral, cardiac, renal, and limb defects syndrome 23 tests
Vertebral, cardiac, renal, and limb defects syndrome 33 tests
Ververi-Brady syndrome3 tests
Very long chain acyl-CoA dehydrogenase deficiency10 tests
Vesicoureteral reflux 24 tests
Vesicoureteral reflux 34 tests
VEXAS syndrome1 test
Vici syndrome7 tests
Visceral myopathy 11 test
Visceral myopathy 21 test
VISS syndrome2 tests
Vissers-Bodmer syndrome3 tests
Vitamin D hydroxylation-deficient rickets, type 1B2 tests
Vitamin D-dependent rickets type II with alopecia4 tests
Vitamin D-dependent rickets, type 1A5 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitelliform macular dystrophy 21 test
Vitelliform macular dystrophy 31 test
Vitelliform macular dystrophy 41 test
Vitelliform macular dystrophy 51 test
Vitiligo-associated multiple autoimmune disease susceptibility 12 tests
Von Hippel-Lindau syndrome6 tests
von Willebrand disease type 11 test
von Willebrand disease type 21 test
von Willebrand disease type 33 tests
Waardenburg syndrome type 18 tests
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E12 tests
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Waardenburg syndrome, IIa 2F1 test
Wagner syndrome5 tests
Warburg micro syndrome 16 tests
Warburg micro syndrome 21 test
Warburg micro syndrome 36 tests
Warburg micro syndrome 44 tests
Warburg-cinotti syndrome6 tests
Warfarin response1 test
Warfarin sensitivity, X-linked1 test
Warsaw breakage syndrome2 tests
Weaver syndrome5 tests
Webb-Dattani syndrome1 test
Weill-Marchesani syndrome 15 tests
Weill-Marchesani syndrome 2, dominant2 tests
Weill-Marchesani syndrome 32 tests
Welander distal myopathy3 tests
Werdnig-Hoffmann disease2 tests
Werner syndrome3 tests
WHIM syndrome 14 tests
Wieacker-Wolff syndrome1 test
Wieacker-Wolff syndrome, female-restricted5 tests
Wiedemann-Steiner syndrome3 tests
Wilms tumor 125 tests
Wilms tumor 62 tests
Wilson disease13 tests
Wilson-Turner syndrome3 tests
Wiskott-Aldrich syndrome1 test
Wiskott-Aldrich syndrome 22 tests
Wolcott-Rallison dysplasia6 tests
Wolff-Parkinson-White pattern8 tests
Wolfram syndrome 11 test
Wolfram syndrome 26 tests
Wolfram-like syndrome1 test
Wolman disease6 tests
Woodhouse-Sakati syndrome8 tests
Woolly hair-skin fragility syndrome1 test
Wooly hair-palmoplantar keratoderma syndrome3 tests
Wrinkly skin syndrome10 tests
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency3 tests
X-linked Alport syndrome5 tests
X-linked central congenital hypothyroidism with late-onset testicular enlargement2 tests
X-linked chondrodysplasia punctata 15 tests
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked cone-rod dystrophy 34 tests
X-linked distal spinal muscular atrophy type 311 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked dystonia-parkinsonism3 tests
X-linked Emery-Dreifuss muscular dystrophy4 tests
X-linked erythropoietic protoporphyria1 test
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome1 test
X-linked hydrocephalus syndrome8 tests
X-linked ichthyosis with steryl-sulfatase deficiency5 tests
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia7 tests
X-linked intellectual disability Cabezas type7 tests
X-linked intellectual disability with marfanoid habitus2 tests
X-linked intellectual disability, Cantagrel type4 tests
X-linked intellectual disability, Stocco dos Santos type4 tests
X-linked intellectual disability, van Esch type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome8 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
X-linked intellectual disability-short stature-overweight syndrome2 tests
X-linked lissencephaly with abnormal genitalia1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
X-linked lymphoproliferative disease due to XIAP deficiency2 tests
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked mixed hearing loss with perilymphatic gusher2 tests
X-linked myopathy with excessive autophagy2 tests
X-linked myopathy with postural muscle atrophy4 tests
X-linked Opitz G/BBB syndrome4 tests
X-linked parkinsonism-spasticity syndrome1 test
X-linked progressive cerebellar ataxia4 tests
X-linked recessive nephrolithiasis with renal failure1 test
X-linked reticulate pigmentary disorder5 tests
X-linked scapuloperoneal muscular dystrophy3 tests
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia 110 tests
X-linked sideroblastic anemia with ataxia6 tests
X-linked spondyloepimetaphyseal dysplasia3 tests
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group C2 tests
Xeroderma pigmentosum, group D2 tests
Xeroderma pigmentosum, group F1 test
Xeroderma pigmentosum, group G5 tests
XFE progeroid syndrome1 test
Yao syndrome1 test
Yunis-Varon syndrome1 test
Zimmermann-Laband syndrome 11 test
Zimmermann-Laband syndrome 21 test
Zinc deficiency, transient neonatal2 tests
ZTTK syndrome3 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Genetic counseling
Maternal cell contamination study (MCC)
Mutation Confirmation
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
Whole Genome Sequencing

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D2049715, Expiration date: 2025-04-02
CAP, Number: 8005167, Expiration date: 2024-08-06
ISO15189:2012 (CAP # 8005167), Number: ISO15189:2012 (CAP # 8005167), Expiration date: 2024-08-06

Participation in external programs

Data exchange Programs

Mutation-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.