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GTR Home > Laboratories > CeGaT GmbH

CeGaT GmbH

GTR Lab ID: 319947, Last updated:2024-07-15

Personnel

  • Director: Saskia Biskup, PhD, MD, Lab Director
    Phone: +49-7071-5654455

Conditions and tests

  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 3-methylglutaconic aciduria type 13 tests
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Methylglutaconic aciduria type 33 tests
  • 3-methylglutaconic aciduria type 51 test
  • 3-methylglutaconic aciduria, type VIIB1 test
  • 3M syndrome 31 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 4p partial monosomy syndrome2 tests
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
  • Aarskog syndrome1 test
  • Abetalipoproteinaemia1 test
  • ABri amyloidosis3 tests
  • Absence seizure1 test
  • Achondrogenesis type II2 tests
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB2 tests
  • Achondroplasia3 tests
  • Achromatopsia1 test
  • Achromatopsia 101 test
  • Achromatopsia 22 tests
  • Achromatopsia 32 tests
  • Achromatopsia 42 tests
  • Achromatopsia 51 test
  • Achromatopsia 61 test
  • Achromatopsia 72 tests
  • Achromatopsia 81 test
  • Achromatopsia 91 test
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease1 test
  • Acquired polycythemia vera1 test
  • Acrocallosal syndrome4 tests
  • Acrocephalosyndactyly type I1 test
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acrodysostosis 2 with or without hormone resistance2 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 2B1 test
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome2 tests
  • Acute lymphoid leukemia1 test
  • Acute myeloid leukemia6 tests
  • ADan amyloidosis3 tests
  • Adenylosuccinate lyase deficiency1 test
  • Adrenoleukodystrophy6 tests
  • Adult hypophosphatasia1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult polyglucosan body disease2 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
  • Adult-onset foveomacular vitelliform dystrophy2 tests
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant6 tests
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Age related macular degeneration 51 test
  • Age related macular degeneration 71 test
  • Age-related macular degeneration2 tests
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi Goutieres syndrome7 tests
  • Aicardi-Goutieres syndrome 110 tests
  • Aicardi-Goutieres syndrome 27 tests
  • Aicardi-Goutieres syndrome 36 tests
  • Aicardi-Goutieres syndrome 46 tests
  • Aicardi-Goutieres syndrome 57 tests
  • Aicardi-Goutieres syndrome 67 tests
  • Aicardi-Goutieres syndrome 71 test
  • Aicardi-Goutieres syndrome 81 test
  • Aicardi-Goutieres syndrome 91 test
  • Alagille syndrome due to a JAG1 point mutation2 tests
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • Albinism1 test
  • ALDH18A1-related de Barsy syndrome4 tests
  • Alexander disease9 tests
  • ALG1-congenital disorder of glycosylation2 tests
  • ALG11-congenital disorder of glycosylation2 tests
  • ALG12-congenital disorder of glycosylation3 tests
  • ALG2-congenital disorder of glycosylation3 tests
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C2 tests
  • ALG8 congenital disorder of glycosylation3 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Allan-Herndon-Dudley syndrome1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • ALS2-related disorder3 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood5 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 26 tests
  • Alzheimer disease2 tests
  • Alzheimer disease 21 test
  • Alzheimer disease 35 tests
  • Alzheimer disease 44 tests
  • Alzheimer disease type 12 tests
  • Amelocerebrohypohidrotic syndrome1 test
  • Amish lethal microcephaly1 test
  • Amyloidosis, hereditary systemic 11 test
  • Amyotrophic lateral sclerosis4 tests
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 105 tests
  • Amyotrophic lateral sclerosis type 113 tests
  • Amyotrophic lateral sclerosis type 123 tests
  • Amyotrophic lateral sclerosis type 153 tests
  • Amyotrophic lateral sclerosis type 183 tests
  • Amyotrophic lateral sclerosis type 191 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 212 tests
  • Amyotrophic lateral sclerosis type 46 tests
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 66 tests
  • Amyotrophic lateral sclerosis type 85 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophic neuralgia1 test
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome2 tests
  • Androgen resistance syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Aneurysm-osteoarthritis syndrome2 tests
  • Angelman syndrome4 tests
  • Angiokeratoma corporis diffusum with arteriovenous fistulas1 test
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 11 test
  • Anophthalmia-microphthalmia syndrome2 tests
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 41 test
  • Antley-Bixler syndrome1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 43 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 82 tests
  • Aortic valve disease 11 test
  • Aortic valve disease 21 test
  • Aplastic anemia2 tests
  • Aromatase deficiency1 test
  • Aromatase excess syndrome1 test
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arrhythmogenic right ventricular dysplasia 31 test
  • Arrhythmogenic right ventricular dysplasia 41 test
  • Arrhythmogenic right ventricular dysplasia 52 tests
  • Arrhythmogenic right ventricular dysplasia 61 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial, 71 test
  • Arterial tortuosity syndrome1 test
  • Arteriohepatic dysplasia1 test
  • Arthrogryposis, distal, type 1A1 test
  • Arts syndrome1 test
  • Aspartylglucosaminuria1 test
  • Asperger syndrome, X-linked, susceptibility to, 11 test
  • Asperger syndrome, X-linked, susceptibility to, 21 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 32 tests
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3 tests
  • Ataxia-telangiectasia syndrome7 tests
  • Ataxia-telangiectasia-like disorder 13 tests
  • Ataxia-telangiectasia-like disorder 21 test
  • Atelosteogenesis type II1 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 11 test
  • Atrial septal defect 21 test
  • Atrial septal defect 31 test
  • Atrial septal defect 51 test
  • Atrial septal defect 72 tests
  • Atrial septal defect 91 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect and common atrioventricular junction2 tests
  • Atrophia bulborum hereditaria1 test
  • Attenuated familial adenomatous polyposis1 test
  • Atypical hemolytic-uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 21 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
  • Autoimmune interstitial lung disease-arthritis syndrome1 test
  • Autoimmune lymphoproliferative syndrome type 12 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4 tests
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2 tests
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3 tests
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1H1 test
  • Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
  • Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 31 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 51 test
  • Autosomal dominant nonsyndromic hearing loss1 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal dominant nonsyndromic hearing loss 561 test
  • Autosomal dominant nonsyndromic hearing loss 62 tests
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant Parkinson disease 13 tests
  • Autosomal dominant Parkinson disease 41 test
  • Autosomal dominant Parkinson disease 83 tests
  • Autosomal dominant polycystic kidney disease1 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal dominant vitreoretinochoroidopathy1 test
  • Autosomal hypohidrotic ectodermal dysplasia1 test
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency4 tests
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive distal renal tubular acidosis2 tests
  • Autosomal recessive distal spinal muscular atrophy 13 tests
  • Autosomal recessive DOPA responsive dystonia6 tests
  • Autosomal recessive early-onset Parkinson disease 63 tests
  • Autosomal recessive early-onset Parkinson disease 73 tests
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive inherited pseudoxanthoma elasticum3 tests
  • Autosomal recessive juvenile Parkinson disease 24 tests
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • 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 2P2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive nonsyndromic hearing loss 1A3 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 43 tests
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive optic atrophy, OPA7 type2 tests
  • Autosomal recessive osteopetrosis 11 test
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive osteopetrosis 51 test
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive Parkinson disease 147 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive primary microcephaly2 tests
  • Autosomal recessive Robinow syndrome1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
  • Autosomal recessive spinocerebellar ataxia 103 tests
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Autosomal recessive spinocerebellar ataxia 71 test
  • Avascular necrosis of femoral head, primary, 11 test
  • Axenfeld-Rieger syndrome type 12 tests
  • Axenfeld-Rieger syndrome type 21 test
  • Axenfeld-Rieger syndrome type 32 tests
  • Azorean disease5 tests
  • B-cell chronic lymphocytic leukemia1 test
  • Baller-Gerold syndrome1 test
  • Bamforth-Lazarus syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter syndrome 13 tests
  • Baraitser-winter syndrome 22 tests
  • Bardet-Biedl syndrome4 tests
  • Bardet-Biedl syndrome 13 tests
  • Bardet-Biedl syndrome 103 tests
  • Bardet-Biedl syndrome 113 tests
  • Bardet-Biedl syndrome 123 tests
  • Bardet-Biedl syndrome 133 tests
  • Bardet-Biedl syndrome 144 tests
  • Bardet-Biedl syndrome 153 tests
  • Bardet-Biedl syndrome 163 tests
  • Bardet-Biedl syndrome 24 tests
  • Bardet-Biedl syndrome 33 tests
  • Bardet-Biedl syndrome 43 tests
  • Bardet-Biedl syndrome 53 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 73 tests
  • Bardet-Biedl syndrome 84 tests
  • Bardet-Biedl syndrome 93 tests
  • Bartter disease type 31 test
  • Bartter disease type 4A1 test
  • Bartter disease type 4B1 test
  • Basal cell carcinoma, susceptibility to, 12 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Basal laminar drusen1 test
  • Batten-Turner congenital myopathy1 test
  • Beaded hair1 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome3 tests
  • Benign familial hematuria1 test
  • Benign hereditary chorea2 tests
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Bent bone dysplasia syndrome 12 tests
  • Bernard Soulier syndrome1 test
  • beta Thalassemia1 test
  • Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
  • Bethlem myopathy 1A1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency2 tests
  • Blau syndrome3 tests
  • Blood group, I system2 tests
  • Bloom syndrome3 tests
  • BNAR syndrome1 test
  • Bohring-Opitz syndrome1 test
  • Bone Paget disease1 test
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Bothnia retinal dystrophy2 tests
  • Brachydactyly type A11 test
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E21 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyolmia - Maroteaux type3 tests
  • Brachyrachia (short spine dysplasia)3 tests
  • Brain small vessel disease 1 with or without ocular anomalies3 tests
  • Brain-lung-thyroid syndrome2 tests
  • Branchiootic syndrome 31 test
  • Branchiootorenal Spectrum Disorders1 test
  • Branchiootorenal syndrome 11 test
  • Branchiootorenal syndrome 21 test
  • Breast-ovarian cancer, familial, susceptibility to, 12 tests
  • Breast-ovarian cancer, familial, susceptibility to, 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 32 tests
  • Breast-ovarian cancer, familial, susceptibility to, 42 tests
  • Brittle cornea syndrome 12 tests
  • Brittle cornea syndrome 22 tests
  • Brody myopathy1 test
  • Bronchiectasis with or without elevated sweat chloride 12 tests
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 71 test
  • Brugada syndrome 82 tests
  • Brugada syndrome 91 test
  • Budd-Chiari syndrome1 test
  • C syndrome1 test
  • C1 inhibitor deficiency1 test
  • C1Q deficiency3 tests
  • Café-au-lait macules with pulmonary stenosis1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia1 test
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 81 test
  • Capillary infantile hemangioma1 test
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation 14 tests
  • CARASIL syndrome2 tests
  • Carcinoid tumor of intestine1 test
  • Carcinoma of colon4 tests
  • Carcinoma of pancreas3 tests
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Cardiofaciocutaneous syndrome 13 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Cardiomyopathy, hypertrophic, midventricular, digenic1 test
  • Cardiomyopathy, mitochondrial1 test
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome2 tests
  • Carnitine palmitoyl transferase II deficiency, myopathic form1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carpal tunnel syndrome1 test
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • Cataract 1 multiple types1 test
  • Cataract 12 multiple types2 tests
  • Cataract 14 multiple types1 test
  • Cataract 16 multiple types1 test
  • Cataract 17 multiple types1 test
  • Cataract 181 test
  • Cataract 22 multiple types1 test
  • Cataract 361 test
  • Cataract 381 test
  • Cataract 401 test
  • Cataract 411 test
  • Cataract 46 juvenile-onset1 test
  • Cataract 5 multiple types2 tests
  • Cataract 6 multiple types1 test
  • Cataract 9 multiple types1 test
  • Cataract, Autosomal Dominant Congenital 41 test
  • Cataract, cortical pulverulent, late-onset1 test
  • Cataract, polymorphic and lamellar1 test
  • Cataracts, Autosomal Dominant1 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • Cayman type cerebellar ataxia1 test
  • CBL-related disorder3 tests
  • CEDNIK syndrome2 tests
  • Cenani-Lenz syndactyly syndrome1 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 15 tests
  • Cerebral cavernous malformation1 test
  • Cerebral folate transport deficiency6 tests
  • Cerebrooculofacioskeletal syndrome 12 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 12 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3 tests
  • Ceroid lipofuscinosis, neuronal, 6A2 tests
  • Cervical cancer1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease axonal type 2C4 tests
  • 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 2N2 tests
  • Charcot-Marie-Tooth disease axonal type 2O2 tests
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2Q1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D2 tests
  • Charcot-Marie-Tooth disease recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C3 tests
  • Charcot-Marie-Tooth disease type 1B2 tests
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D2 tests
  • Charcot-Marie-Tooth disease type 1E2 tests
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 23 tests
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A22 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D4 tests
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 44 tests
  • Charcot-Marie-Tooth disease type 4A2 tests
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B21 test
  • Charcot-Marie-Tooth disease type 4B31 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4E3 tests
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4G1 test
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J4 tests
  • Charcot-Marie-Tooth disease X-linked dominant 13 tests
  • Charcot-Marie-Tooth disease X-linked recessive 21 test
  • Charcot-Marie-Tooth disease X-linked recessive 31 test
  • Charcot-Marie-Tooth disease X-linked recessive 41 test
  • Charcot-Marie-Tooth disease X-linked recessive 52 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, intermediate type1 test
  • Charcot-Marie-Tooth disease, type 2A1 test
  • Charcot-Marie-Tooth disease, type I1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Charcot-Marie-Tooth Neuropathy Type 2I/2J1 test
  • Charcot-Marie-Tooth Neuropathy X1 test
  • CHARGE syndrome4 tests
  • Charlevoix-Saguenay spastic ataxia3 tests
  • Chilblain lupus 12 tests
  • Chilblain lupus 23 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Childhood Myocerebrohepatopathy Spectrum Disorders4 tests
  • Childhood onset GLUT1 deficiency syndrome 23 tests
  • Cholestanol storage disease6 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, gPAPP type1 test
  • Chondrosarcoma1 test
  • Chorea-acanthocytosis5 tests
  • Choroidal dystrophy, central areolar 22 tests
  • Choroideremia2 tests
  • CHRNA1-Related Congenital Myasthenic Syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chudley-McCullough syndrome1 test
  • Chuvash polycythemia1 test
  • Chédiak-Higashi syndrome4 tests
  • Classic dopamine transporter deficiency syndrome3 tests
  • Cleidocranial dysostosis2 tests
  • CLN13 Disease1 test
  • CLN14 Disease1 test
  • CLOVES syndrome1 test
  • Cobblestone lissencephaly2 tests
  • Cockayne syndrome2 tests
  • Cockayne syndrome type 13 tests
  • Cockayne syndrome type 23 tests
  • Coenzyme Q10 deficiency2 tests
  • Coenzyme Q10 deficiency, primary, 13 tests
  • Coenzyme Q10 deficiency, primary, 33 tests
  • COG6-congenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation1 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome3 tests
  • Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy1 test
  • Coloboma of optic nerve1 test
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, hereditary nonpolyposis, type 71 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined immunodeficiency due to DOCK8 deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined molybdoflavoprotein enzyme deficiency2 tests
  • Combined oxidative phosphorylation defect type 142 tests
  • Combined oxidative phosphorylation defect type 22 tests
  • Combined oxidative phosphorylation defect type 42 tests
  • Combined oxidative phosphorylation defect type 74 tests
  • Combined oxidative phosphorylation defect type 84 tests
  • Combined PSAP deficiency2 tests
  • Complement component 3 deficiency1 test
  • Complex cortical dysplasia with other brain malformations 15 tests
  • Complex cortical dysplasia with other brain malformations 25 tests
  • Complex cortical dysplasia with other brain malformations 34 tests
  • Complex cortical dysplasia with other brain malformations 44 tests
  • Complex cortical dysplasia with other brain malformations 73 tests
  • Compton-North congenital myopathy1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 42 tests
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 11 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 161 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod synaptic disorder, congenital nonprogressive2 tests
  • Congenital afibrinogenemia1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aniridia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital bile acid synthesis defect 11 test
  • Congenital bile acid synthesis defect 33 tests
  • Congenital bile acid synthesis defect 41 test
  • Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
  • Congenital defect of folate absorption3 tests
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation2 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type Ir2 tests
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital generalized lipodystrophy2 tests
  • Congenital generalized lipodystrophy type 24 tests
  • Congenital generalized lipodystrophy type 41 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis of skin1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome4 tests
  • Congenital long QT syndrome1 test
  • Congenital muscular dystrophy1 test
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome1 test
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 151 test
  • Congenital myasthenic syndrome 162 tests
  • Congenital myasthenic syndrome 4C3 tests
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 91 test
  • Congenital myopathy1 test
  • Congenital myopathy 232 tests
  • Congenital myopathy 4B, autosomal recessive1 test
  • Congenital myopathy with fiber type disproportion2 tests
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
  • Congenital ocular coloboma1 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital prothrombin deficiency1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness 1A1 test
  • Congenital stationary night blindness 1B1 test
  • Congenital stationary night blindness 1C1 test
  • Congenital stationary night blindness 2A1 test
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 21 test
  • Congenital stationary night blindness autosomal dominant 31 test
  • Conotruncal anomaly face syndrome1 test
  • Conotruncal heart malformations2 tests
  • Corneal dystrophy, Meesmann, 11 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Cortical dysplasia-focal epilepsy syndrome2 tests
  • Cortisone reductase deficiency 21 test
  • Costello syndrome4 tests
  • Cowden syndrome2 tests
  • Cowden syndrome 11 test
  • Cranioectodermal dysplasia3 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 24 tests
  • Cranioectodermal dysplasia 33 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofrontonasal syndrome2 tests
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive2 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 61 test
  • Craniosynostosis and dental anomalies1 test
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • Cushing syndrome1 test
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cutis laxa, X-linked6 tests
  • Cyclical neutropenia2 tests
  • Cystic fibrosis1 test
  • Cystic leukoencephalopathy without megalencephaly4 tests
  • Cystinuria1 test
  • Dandy-Walker syndrome1 test
  • Danon disease3 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome3 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3 tests
  • Deafness-lymphedema-leukemia syndrome2 tests
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Dejerine-Sottas disease3 tests
  • Dent disease1 test
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmin-related myofibrillar myopathy3 tests
  • Desmosterolosis3 tests
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 132 tests
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 161 test
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 211 test
  • Developmental and epileptic encephalopathy, 231 test
  • Developmental and epileptic encephalopathy, 241 test
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 83 tests
  • Developmental and epileptic encephalopathy, 92 tests
  • Diabetes insipidus, nephrogenic, autosomal2 tests
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diamond-Blackfan anemia 11 test
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diastrophic dysplasia1 test
  • DiGeorge syndrome3 tests
  • Digital Arthropathy-Brachydactyly2 tests
  • Dihydropteridine reductase deficiency3 tests
  • Dilated cardiomyopathy 1D2 tests
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1U5 tests
  • Dilated cardiomyopathy 1V4 tests
  • Dilated cardiomyopathy 3B1 test
  • Disorder of cardiovascular system2 tests
  • Distal arthrogryposis type 2B12 tests
  • Distal monosomy 10p1 test
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy with posterior leg and anterior hand involvement1 test
  • Distal myopathy, Tateyama type1 test
  • DK1-congenital disorder of glycosylation2 tests
  • DNA ligase IV deficiency2 tests
  • Dominant Dystrophic Epidermolysis Bullosa1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency7 tests
  • Double outlet right ventricle1 test
  • Dowling-Degos disease 11 test
  • Down syndrome2 tests
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-congenital disorder of glycosylation3 tests
  • DPM3-congenital disorder of glycosylation2 tests
  • Duane retraction syndrome 21 test
  • Duane-radial ray syndrome2 tests
  • Duchenne muscular dystrophy2 tests
  • Duffy Blood group system1 test
  • Dysequilibrium syndrome1 test
  • Dyskeratosis congenita2 tests
  • Dyskeratosis congenita, autosomal dominant 13 tests
  • Dyskeratosis congenita, autosomal recessive 12 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive 32 tests
  • Dyskeratosis congenita, autosomal recessive 52 tests
  • Dyskeratosis congenita, X-linked5 tests
  • Dyskinesia with orofacial involvement, autosomal dominant1 test
  • Dystonia 126 tests
  • Dystonia 163 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 271 test
  • Dystonia 56 tests
  • Dystonia 93 tests
  • Early infantile epileptic encephalopathy with suppression bursts1 test
  • Early myoclonic encephalopathy2 tests
  • Early-onset autosomal dominant Alzheimer disease3 tests
  • Early-onset generalized limb-onset dystonia3 tests
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • EAST syndrome2 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 11 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • EEM syndrome3 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome progeroid type3 tests
  • Ehlers-Danlos syndrome type 7A2 tests
  • Ehlers-Danlos syndrome type 7B2 tests
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 23 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 22 tests
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken syndrome1 test
  • Elevated circulating glutaric acid concentration2 tests
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome3 tests
  • Endometrial carcinoma1 test
  • Enhanced S-cone syndrome1 test
  • Epidermal nevus1 test
  • Epidermodysplasia verruciformis, susceptibility to, 11 test
  • Epidermolysis bullosa dystrophica1 test
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex 1A, generalized severe2 tests
  • Epidermolysis bullosa simplex 1C, localized2 tests
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
  • Epidermolytic ichthyosis1 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 41 test
  • Epilepsy, childhood absence, susceptibility to, 52 tests
  • Epilepsy, childhood absence, susceptibility to, 61 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial temporal lobe, 12 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 22 tests
  • Epilepsy, progressive myoclonic, 1B4 tests
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
  • Epiphyseal dysplasia, multiple, 22 tests
  • Epiphyseal dysplasia, multiple, 32 tests
  • Epiphyseal dysplasia, multiple, 62 tests
  • Episodic ataxia type 15 tests
  • Episodic Ataxia Type 101 test
  • Episodic Ataxia Type 111 test
  • Episodic Ataxia Type 121 test
  • Episodic ataxia type 24 tests
  • Episodic ataxia type 54 tests
  • Episodic ataxia type 64 tests
  • Episodic ataxia type 71 test
  • Episodic ataxia type 81 test
  • Episodic ataxia, type 91 test
  • Episodic kinesigenic dyskinesia 14 tests
  • Episodic pain syndrome, familial, 21 test
  • ERCC1-Related Xeroderma Pigmentosum3 tests
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Ethylmalonic encephalopathy1 test
  • Exostoses, multiple, type 21 test
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 2, X-linked2 tests
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 52 tests
  • Fabry disease3 tests
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
  • Facioscapulohumeral muscular dystrophy 11 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor H deficiency1 test
  • Factor V deficiency2 tests
  • Factor X deficiency1 test
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of1 test
  • FADD-related immunodeficiency1 test
  • Familial adenomatous polyposis 21 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial fibrillation1 test
  • Familial atrial myxoma1 test
  • Familial atrioventricular septal defect1 test
  • Familial benign flecked retina1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast3 tests
  • Familial cold autoinflammatory syndrome 13 tests
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 33 tests
  • Familial cold autoinflammatory syndrome 41 test
  • Familial colorectal cancer1 test
  • Familial digital arthropathy-brachydactyly2 tests
  • Familial dysautonomia1 test
  • Familial dysfibrinogenemia1 test
  • Familial Episodic Pain Syndrome 41 test
  • Familial Episodic Pain Syndrome 51 test
  • Familial Episodic Pain Syndrome 61 test
  • Familial Episodic Pain Syndrome 71 test
  • Familial Episodic Pain Syndrome 81 test
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial gestational hyperthyroidism1 test
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis type 12 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hyperkalemic periodic paralysis3 tests
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypocalciuric hypercalcemia 12 tests
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 32 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial hypoparathyroidism1 test
  • Familial idiopathic steroid-resistant nephrotic syndrome1 test
  • Familial infantile myasthenia1 test
  • Familial isolated arrhythmogenic right ventricular dysplasia1 test
  • Familial isolated congenital asplenia1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial meningioma2 tests
  • Familial multiple polyposis syndrome1 test
  • Familial normokalemic periodic paralysis1 test
  • Familial ovarian carcinoma1 test
  • Familial pancreatic carcinoma1 test
  • Familial periodic paralysis2 tests
  • Familial porencephaly2 tests
  • Familial renal glucosuria1 test
  • Familial scaphocephaly syndrome, McGillivray type1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
  • Familial temporal lobe epilepsy 51 test
  • Familial thoracic aortic aneurysm and aortic dissection2 tests
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
  • Fanconi anemia1 test
  • Fanconi anemia complementation group A2 tests
  • Fanconi anemia complementation group B1 test
  • Fanconi anemia complementation group C2 tests
  • Fanconi anemia complementation group D11 test
  • Fanconi anemia complementation group D21 test
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F1 test
  • Fanconi anemia complementation group G1 test
  • Fanconi anemia complementation group I1 test
  • Fanconi anemia complementation group J1 test
  • Fanconi anemia complementation group L1 test
  • Fanconi anemia complementation group N2 tests
  • Fanconi anemia complementation group O1 test
  • Fanconi anemia complementation group P1 test
  • Fanconi anemia complementation group Q3 tests
  • Fanconi anemia, complementation group M1 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fanconi-Bickel syndrome1 test
  • Farber lipogranulomatosis4 tests
  • Fatal familial insomnia4 tests
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32 tests
  • Febrile seizures, familial, 82 tests
  • Feingold syndrome type 11 test
  • Fetal akinesia deformation sequence 13 tests
  • FG syndrome 11 test
  • FG syndrome 21 test
  • FGFR2-related craniosynostosis1 test
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 21 test
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
  • Fibrous dysplasia of jaw1 test
  • Finnish type amyloidosis1 test
  • Floating-Harbor syndrome1 test
  • Focal epilepsy1 test
  • Focal facial dermal dysplasia type III1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 31 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Foveal hypoplasia 13 tests
  • Fowler syndrome1 test
  • FOXE3-Related Cataracts, Autosomal Dominant1 test
  • Frank-Ter Haar syndrome1 test
  • Fraser syndrome 11 test
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia1 test
  • Friedreich ataxia 11 test
  • Frontometaphyseal dysplasia 11 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontotemporal dementia7 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 15 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 65 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 75 tests
  • Fuhrmann syndrome2 tests
  • Galactosylceramide beta-galactosidase deficiency8 tests
  • Galloway-Mowat syndrome 11 test
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • GARS-Associated Axonal Neuropathy2 tests
  • Gastrointestinal stromal tumor2 tests
  • Gaucher disease5 tests
  • Gaucher disease due to saposin C deficiency2 tests
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I1 test
  • 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
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 21 test
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 12 tests
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Generalized epilepsy-paroxysmal dyskinesia syndrome5 tests
  • Generalized juvenile polyposis/juvenile polyposis coli1 test
  • Generalized pustular psoriasis2 tests
  • Germ cell tumor1 test
  • Geroderma osteodysplastica1 test
  • Gerstmann-Straussler-Scheinker syndrome4 tests
  • Ghosal hematodiaphyseal dysplasia1 test
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Gillespie syndrome3 tests
  • GJB3-Related Erythrokeratodermia Variabilis1 test
  • GJB4-Related Erythrokeratodermia Variabilis1 test
  • GJC2-related disorder2 tests
  • Glaucoma 1, open angle, E2 tests
  • GLB1-related disorder3 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric aciduria, type 14 tests
  • Glutaryl-CoA oxidase deficiency1 test
  • Glutathione synthetase deficiency without 5-oxoprolinuria1 test
  • Glycogen phosphorylase kinase deficiency1 test
  • Glycogen storage disease1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII1 test
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
  • GM1 gangliosidosis2 tests
  • GM1 gangliosidosis type 23 tests
  • GM1 gangliosidosis type 33 tests
  • Gnathodiaphyseal dysplasia1 test
  • GNE myopathy3 tests
  • GNPTG-mucolipidosis1 test
  • Gonadotropin-independent familial sexual precocity1 test
  • Gorlin syndrome3 tests
  • Granulomatous disease, chronic, X-linked1 test
  • Grebe syndrome2 tests
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 13 tests
  • Griscelli syndrome type 23 tests
  • Griscelli syndrome type 31 test
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
  • GTDC2-Related Muscle Diseases1 test
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial1 test
  • H syndrome1 test
  • Hb SS disease1 test
  • Hearing loss, X-linked 11 test
  • Hearing Loss/Deafness3 tests
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 42 tests
  • Hemolytic anemia due to adenylate kinase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hepatic adenomas, familial1 test
  • Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
  • Hereditary angioedema type 12 tests
  • Hereditary angioedema type 32 tests
  • Hereditary angioneurotic edema1 test
  • Hereditary antithrombin deficiency2 tests
  • Hereditary breast ovarian cancer syndrome2 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary diffuse leukoencephalopathy with spheroids6 tests
  • Hereditary disease2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hyperferritinemia with congenital cataracts7 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
  • Hereditary neuroendocrine tumor of small intestine1 test
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis4 tests
  • Hereditary pheochromocytoma-paraganglioma1 test
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type 21 test
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia1 test
  • Hereditary spastic paraplegia 103 tests
  • Hereditary spastic paraplegia 114 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 133 tests
  • Hereditary spastic paraplegia 154 tests
  • Hereditary spastic paraplegia 174 tests
  • Hereditary spastic paraplegia 25 tests
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 302 tests
  • Hereditary spastic paraplegia 314 tests
  • Hereditary spastic paraplegia 331 test
  • Hereditary spastic paraplegia 355 tests
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A3 tests
  • Hereditary spastic paraplegia 43 tests
  • Hereditary spastic paraplegia 422 tests
  • Hereditary spastic paraplegia 443 tests
  • Hereditary spastic paraplegia 481 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 5A3 tests
  • Hereditary spastic paraplegia 62 tests
  • Hereditary spastic paraplegia 75 tests
  • Hereditary spastic paraplegia 722 tests
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 42 tests
  • Hereditary spherocytosis type 51 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
  • Hermansky-Pudlak syndrome2 tests
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 101 test
  • Hermansky-Pudlak syndrome 111 test
  • Hermansky-Pudlak Syndrome 121 test
  • Hermansky-Pudlak Syndrome 131 test
  • Hermansky-Pudlak Syndrome 141 test
  • Hermansky-Pudlak syndrome 24 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Herpes simplex encephalitis, susceptibility to, 11 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • Hirschsprung disease, susceptibility to, 11 test
  • HNSHA due to aldolase A deficiency1 test
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 23 tests
  • Holoprosencephaly 33 tests
  • Holoprosencephaly 43 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 62 tests
  • Holoprosencephaly 73 tests
  • Holoprosencephaly 82 tests
  • Holoprosencephaly 93 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • HSD10 mitochondrial disease1 test
  • Huntington disease2 tests
  • Huntington disease-like 14 tests
  • Huntington disease-like 23 tests
  • Huppke-Brendel syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 11 test
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 41 test
  • Hypercholesterolemia, familial, 12 tests
  • Hyperekplexia1 test
  • Hyperekplexia 13 tests
  • Hyperekplexia 21 test
  • Hyperekplexia 32 tests
  • Hyperglycinuria2 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis8 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4 tests
  • Hyperphenylalaninemia1 test
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperprolinemia type 21 test
  • Hypertrophic cardiomyopathy 12 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 151 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 181 test
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 22 tests
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 42 tests
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypochondroplasia2 tests
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
  • Hypohidrotic ectodermal dysplasia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis2 tests
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomyelinating leukodystrophy 25 tests
  • Hypomyelinating leukodystrophy 33 tests
  • Hypomyelinating leukodystrophy 41 test
  • Hypomyelinating leukodystrophy 67 tests
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypophosphatasia2 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic Rickets Disorders3 tests
  • Hypophosphatemic rickets, autosomal recessive, 12 tests
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive2 tests
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 12 tests
  • Hypoplastic left heart syndrome 22 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked1 test
  • Hypothyroidism due to TSH receptor mutations1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotonia with lactic acidemia and hyperammonemia2 tests
  • Hypotrichosis 11 test
  • Hypotrichosis 21 test
  • Hypotrichosis 61 test
  • Hypotrichosis 81 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, hystrix-like, with hearing loss2 tests
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic CD4 lymphocytopenia1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • IFAP syndrome 1, with or without BRESHECK syndrome1 test
  • IMAGe syndrome1 test
  • Imerslund-Grasbeck syndrome1 test
  • Iminoglycinuria2 tests
  • Immunodeficiency 141 test
  • Immunodeficiency 181 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 331 test
  • Immunodeficiency 511 test
  • Immunodeficiency 671 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency due to CD25 deficiency1 test
  • Immunodeficiency, common variable, 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 16 tests
  • Incontinentia pigmenti syndrome1 test
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
  • Infantile convulsions and choreoathetosis3 tests
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
  • Infantile hypophosphatasia1 test
  • Infantile liver failure syndrome 11 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy7 tests
  • Infantile onset spinocerebellar ataxia3 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infantile-onset X-linked spinal muscular atrophy3 tests
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 281 test
  • Inherited Creutzfeldt-Jakob disease4 tests
  • Inherited glutathione synthetase deficiency1 test
  • Inherited prion disease3 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 131 test
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 291 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 92 tests
  • Intellectual disability, autosomal recessive 121 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability, X-linked, with panhypopituitarism1 test
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Interstitial lung disease due to ABCA3 deficiency1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
  • Invasive pneumococcal disease, recurrent isolated1 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • IQCB1-Related Leber Congenital Amaurosis1 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Ischemic stroke1 test
  • Isolated 17-Linked Lissencephaly2 tests
  • Isolated focal cortical dysplasia type II1 test
  • Isolated lutropin deficiency1 test
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 51 test
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • Isolated optic nerve hypoplasia1 test
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Jackson-Weiss syndrome1 test
  • Jawad syndrome1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Jeune thoracic dystrophy1 test
  • Joubert syndrome 15 tests
  • Joubert syndrome 105 tests
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 164 tests
  • Joubert syndrome 174 tests
  • Joubert syndrome 184 tests
  • Joubert syndrome 25 tests
  • Joubert syndrome 204 tests
  • Joubert syndrome 36 tests
  • Joubert syndrome 55 tests
  • Joubert syndrome 65 tests
  • Joubert syndrome 75 tests
  • Joubert syndrome 85 tests
  • Joubert syndrome 95 tests
  • Joubert syndrome and related disorders4 tests
  • Joubert syndrome with renal defect6 tests
  • Junctional epidermolysis bullosa1 test
  • Junctional epidermolysis bullosa gravis of Herlitz1 test
  • Junctional epidermolysis bullosa with pyloric atresia1 test
  • Junctional epidermolysis bullosa, non-Herlitz type1 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency5 tests
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile hemochromatosis1 test
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile onset Parkinson disease 19A2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis2 tests
  • Kartagener syndrome2 tests
  • Kennedy disease2 tests
  • Keratosis follicularis1 test
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keutel syndrome1 test
  • Kindler syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Kostmann syndrome2 tests
  • Krabbe disease due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome5 tests
  • L-2-hydroxyglutaric aciduria5 tests
  • L-ferritin deficiency1 test
  • L1 syndrome1 test
  • Lafora disease5 tests
  • Landau-Kleffner syndrome2 tests
  • Laron-type isolated somatotropin defect1 test
  • Late-onset retinal degeneration1 test
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Leber optic atrophy5 tests
  • Left ventricular noncompaction1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 101 test
  • Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy1 test
  • Left ventricular noncompaction 41 test
  • Left ventricular noncompaction 51 test
  • Left ventricular noncompaction 91 test
  • Left Ventricular Outflow Tract Obstruction (LVOTO)1 test
  • Left-right axis malformations1 test
  • Legg-Calve-Perthes disease1 test
  • Legius syndrome6 tests
  • Leigh syndrome1 test
  • Leigh Syndrome (mtDNA mutation)1 test
  • Leigh Syndrome (nuclear DNA mutation)4 tests
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 15 tests
  • LEOPARD syndrome 24 tests
  • LEOPARD syndrome 34 tests
  • Lesch-Nyhan syndrome1 test
  • Lethal acantholytic epidermolysis bullosa1 test
  • Lethal arthrogryposis-anterior horn cell disease syndrome1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital glycogen storage disease of heart1 test
  • Lethal multiple pterygium syndrome2 tests
  • Lethal osteosclerotic bone dysplasia2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leukocyte adhesion deficiency 12 tests
  • Leukocyte adhesion deficiency type II1 test
  • Leukoencephalopathy with Ataxia due to ClC-2 Deficiency3 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
  • Levy-Hollister syndrome5 tests
  • Lewy body dementia3 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome2 tests
  • Li-Fraumeni syndrome 21 test
  • Liddle syndrome 12 tests
  • Limb-girdle muscular dystrophy1 test
  • Limb-girdle muscular dystrophy due to POMK deficiency1 test
  • Linear nevus sebaceous syndrome2 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipoprotein glomerulopathy1 test
  • Lissencephaly2 tests
  • Lissencephaly 44 tests
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly due to TUBA1A mutation3 tests
  • Lissencephaly type 1 due to doublecortin gene mutation3 tests
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 42 tests
  • Long QT syndrome1 test
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 132 tests
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 52 tests
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Loricrin keratoderma1 test
  • Low phospholipid associated cholelithiasis1 test
  • Lowe syndrome1 test
  • Lower motor neuron syndrome with late-adult onset1 test
  • Lung carcinoma2 tests
  • Lymphangiomyomatosis2 tests
  • Lymphatic malformation 34 tests
  • Lymphatic malformation 41 test
  • Lymphedema praecox1 test
  • Lynch syndrome 12 tests
  • Macrocephaly and epileptic encephalopathy1 test
  • Macrocephaly-autism syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular corneal dystrophy1 test
  • Macular degeneration, X-linked atrophic1 test
  • Majeed syndrome2 tests
  • Malan overgrowth syndrome1 test
  • Malignant hyperthermia of anesthesia1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant hyperthermia, susceptibility to, 21 test
  • Malignant hyperthermia, susceptibility to, 31 test
  • Malignant hyperthermia, susceptibility to, 41 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant hyperthermia, susceptibility to, 61 test
  • Malignant melanoma of skin1 test
  • Malignant tumor of esophagus1 test
  • Malignant tumor of prostate2 tests
  • Malignant tumor of testis2 tests
  • Malignant tumor of urinary bladder2 tests
  • Maple syrup urine disease3 tests
  • Maple syrup urine disease, mild variant1 test
  • Marfan syndrome2 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
  • Marinesco-Sjögren syndrome3 tests
  • Marshall syndrome1 test
  • Marshall-Smith syndrome1 test
  • Martsolf syndrome1 test
  • MASA syndrome1 test
  • Mast syndrome3 tests
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • McCune-Albright syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome, type 11 test
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 22 tests
  • Meckel syndrome, type 32 tests
  • Meckel syndrome, type 42 tests
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 62 tests
  • Meckel syndrome, type 81 test
  • Meckel syndrome, type 92 tests
  • Meckel-Gruber syndrome2 tests
  • MEDNIK syndrome1 test
  • Medulloblastoma2 tests
  • Megaconial type congenital muscular dystrophy2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts7 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A3 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 25 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Somatic4 tests
  • MEGF8-related Carpenter syndrome1 test
  • Meier-Gorlin syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 11 test
  • Melanoma, cutaneous malignant, susceptibility to, 22 tests
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma, cutaneous malignant, susceptibility to, 51 test
  • Melanoma, cutaneous malignant, susceptibility to, 81 test
  • Melanoma-pancreatic cancer syndrome1 test
  • Melnick-Needles syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
  • Menkes kinky-hair syndrome5 tests
  • Merosin deficient congenital muscular dystrophy2 tests
  • MERRF syndrome1 test
  • MERRF/MELAS overlap syndrome1 test
  • Metachondromatosis2 tests
  • Metachromatic leukodystrophy8 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type3 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome2 tests
  • Metatropic dysplasia4 tests
  • Mevalonic aciduria1 test
  • MGAT2-congenital disorder of glycosylation1 test
  • Microcephalic osteodysplastic primordial dwarfism type II3 tests
  • Microcephaly 1, primary, autosomal recessive2 tests
  • Microcephaly 11, primary, autosomal recessive2 tests
  • Microcephaly 12, primary, autosomal recessive2 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
  • Microcephaly 3, primary, autosomal recessive3 tests
  • Microcephaly 4, primary, autosomal recessive2 tests
  • Microcephaly 5, primary, autosomal recessive3 tests
  • Microcephaly 6, primary, autosomal recessive2 tests
  • Microcephaly 7, primary, autosomal recessive2 tests
  • Microcephaly 8, primary, autosomal recessive2 tests
  • Microcephaly 9, primary, autosomal recessive2 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly with Polymicrogyria2 tests
  • Microcephaly, cortical malformations, and intellectual disability2 tests
  • Microcephaly, epilepsy, and diabetes syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, seizures, and developmental delay2 tests
  • Microcephaly-capillary malformation syndrome3 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
  • Microlissencephaly2 tests
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia, isolated, with coloboma 52 tests
  • Microphthalmia, syndromic 11 test
  • Migraine, familial hemiplegic, 13 tests
  • Migraine, familial hemiplegic, 22 tests
  • Migraine, familial hemiplegic, 32 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Miller Dieker syndrome2 tests
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mismatch repair cancer syndrome 13 tests
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency nuclear type 12 tests
  • Mitochondrial complex III deficiency nuclear type 21 test
  • Mitochondrial complex IV deficiency, nuclear type 13 tests
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 31 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
  • Mitochondrial disease1 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy1 test
  • Mitochondrial DNA depletion syndrome 15 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 4b6 tests
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 8a2 tests
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form3 tests
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
  • Mitochondrial myopathy with diabetes1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • Monocytopenia with susceptibility to infections1 test
  • Mowat-Wilson syndrome1 test
  • Moyamoya disease 51 test
  • MPDU1-congenital disorder of glycosylation2 tests
  • MPI-congenital disorder of glycosylation1 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Mucolipidosis type II1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 12 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 73 tests
  • Mucopolysaccharidosis, MPS-II3 tests
  • Mucopolysaccharidosis, MPS-III-A3 tests
  • Mucopolysaccharidosis, MPS-III-B3 tests
  • Mucopolysaccharidosis, MPS-III-C3 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B6 tests
  • Muenke syndrome2 tests
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiminicore myopathy1 test
  • Multiple acyl-CoA dehydrogenase deficiency4 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital exostosis1 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple epiphyseal dysplasia type 12 tests
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia type 53 tests
  • Multiple epiphyseal dysplasia, Beighton type2 tests
  • Multiple Epiphyseal Dysplasia, Dominant1 test
  • Multiple gastrointestinal atresias1 test
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple sulfatase deficiency1 test
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy, limb-girdle, autosomal dominant1 test
  • Muscular dystrophy-dystroglycanopathy2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
  • Muscular dystrophy-dystroglycanopathy type B61 test
  • Mutilating keratoderma2 tests
  • Myasthenic syndrome, congenital, 1B, fast-channel2 tests
  • Myasthenic syndrome, slow-channel congenital3 tests
  • Myelodysplastic syndrome2 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH7-related skeletal myopathy2 tests
  • Myhre syndrome1 test
  • Myoclonic dystonia 114 tests
  • Myoclonic dystonia 261 test
  • Myoclonic-astatic epilepsy1 test
  • Myoclonus, familial, 11 test
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 61 test
  • Myofibromatosis, infantile, 11 test
  • Myofibromatosis, infantile, 21 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myokymia 1 with or without hypomagnesemia2 tests
  • Myopathy, centronuclear, 21 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopathy, tubular aggregate, 11 test
  • Myopathy, tubular aggregate, 21 test
  • Myosclerosis1 test
  • Myosin storage myopathy3 tests
  • Nager syndrome1 test
  • Nail-patella syndrome2 tests
  • Nail-patella-like renal disease1 test
  • Namaqualand hip dysplasia1 test
  • Nance-Horan syndrome1 test
  • Narcolepsy 11 test
  • Naxos disease3 tests
  • NDE1-related microhydranencephaly2 tests
  • Nemaline myopathy1 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 81 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal severe primary hyperparathyroidism2 tests
  • Neonatal-onset encephalopathy with rigidity and seizures1 test
  • Neoplasm of stomach2 tests
  • Nephrogenic diabetes insipidus1 test
  • Nephronophthisis1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 111 test
  • Nephronophthisis 124 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 144 tests
  • Nephronophthisis 161 test
  • Nephronophthisis 171 test
  • Nephronophthisis 181 test
  • Nephronophthisis 191 test
  • Nephronophthisis 201 test
  • Nephronophthisis 211 test
  • Nephronophthisis 221 test
  • Nephronophthisis 231 test
  • Nephronophthisis 241 test
  • Nephronophthisis 251 test
  • Nephronophthisis 261 test
  • Nephronophthisis 271 test
  • Nephronophthisis 32 tests
  • Nephronophthisis 42 tests
  • Nephronophthisis 81 test
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome2 tests
  • Neural tube defects, folate-sensitive2 tests
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
  • Neuroferritinopathy6 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 23 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neuronal ceroid lipofuscinosis2 tests
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 114 tests
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 22 tests
  • Neuronal ceroid lipofuscinosis 34 tests
  • Neuronal ceroid lipofuscinosis 53 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 82 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 84 tests
  • Neuronopathy, distal hereditary motor, autosomal recessive 43 tests
  • Neuronopathy, distal hereditary motor, type 2A2 tests
  • Neuronopathy, distal hereditary motor, type 2B2 tests
  • Neuronopathy, distal hereditary motor, type 2C2 tests
  • Neuronopathy, distal hereditary motor, type 5A6 tests
  • Neuronopathy, distal hereditary motor, type 5B2 tests
  • Neuronopathy, distal hereditary motor, type 7A1 test
  • Neuronopathy, distal hereditary motor, type 7B7 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • Neuropathy, hereditary sensory, type 1D3 tests
  • Neuropathy, hereditary sensory, type 2C3 tests
  • Neutral lipid storage myopathy1 test
  • Neutropenia, severe congenital, 1, autosomal dominant2 tests
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome1 test
  • Newfoundland cone-rod dystrophy1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C14 tests
  • Niemann-Pick disease, type C24 tests
  • NODAL-Related Holoprosencephaly2 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-Hodgkin lymphoma2 tests
  • Non-ketotic hyperglycinemia6 tests
  • Noncompaction of left ventricular myocardium, familial isolated1 test
  • Nonpapillary renal cell carcinoma2 tests
  • Noonan syndrome3 tests
  • Noonan syndrome 15 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 43 tests
  • Noonan syndrome 54 tests
  • Noonan syndrome 63 tests
  • Noonan syndrome 74 tests
  • Noonan syndrome 83 tests
  • Noonan syndrome with multiple lentigines4 tests
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Norman-Roberts syndrome3 tests
  • Normokalemic periodic paralysis, potassium-sensitive1 test
  • NPHP3-related Meckel-like syndrome2 tests
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity due to congenital leptin deficiency1 test
  • Occult macular dystrophy2 tests
  • Ocular albinism with congenital sensorineural hearing loss2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II2 tests
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 43 tests
  • Oculocutaneous albinism type 51 test
  • Oculocutaneous albinism type 62 tests
  • Oculocutaneous albinism type 74 tests
  • Oculocutaneous albinism type 81 test
  • Oculocutaneous Albinism Type 91 test
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculootoradial syndrome1 test
  • Oculopharyngeal muscular dystrophy2 tests
  • Oculotrichoanal syndrome2 tests
  • Oligodontia-cancer predisposition syndrome1 test
  • Olmsted syndrome 11 test
  • Opsismodysplasia1 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 111 test
  • Optic atrophy 121 test
  • Optic atrophy 34 tests
  • Optic atrophy 81 test
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
  • Optic nerve hypoplasia and abnormalities of the central nervous system1 test
  • Ornithine aminotransferase deficiency1 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofaciodigital syndrome I2 tests
  • Orofaciodigital syndrome type 61 test
  • Osteocraniostenosis1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta2 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, perinatal lethal1 test
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis with renal tubular acidosis2 tests
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovarian neoplasm1 test
  • Oxoglutaricaciduria1 test
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita syndrome1 test
  • PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia2 tests
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, epidermolytic1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Pancreatic Cancer Susceptibility 41 test
  • Pancreatic cancer, susceptibility to, 11 test
  • Pancreatic cancer, susceptibility to, 21 test
  • Pancreatic cancer, susceptibility to, 31 test
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
  • Panhypopituitarism, X-linked1 test
  • Papillary renal cell carcinoma type 11 test
  • Papillary thyroid carcinoma1 test
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 12 tests
  • Paragangliomas 22 tests
  • Paragangliomas 31 test
  • Paragangliomas 42 tests
  • Paragangliomas 51 test
  • Paramyotonia congenita of Von Eulenburg1 test
  • Parastremmatic dwarfism3 tests
  • Parathyroid carcinoma1 test
  • Parkes Weber syndrome3 tests
  • Parkinson disease2 tests
  • Parkinson disease 13, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 173 tests
  • Parkinson disease 18, autosomal dominant, susceptibility to2 tests
  • Parkinsonian-pyramidal syndrome3 tests
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal nocturnal hemoglobinuria 12 tests
  • Paroxysmal nonkinesigenic dyskinesia 14 tests
  • Partial androgen insensitivity syndrome1 test
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Partington syndrome1 test
  • Patterned macular dystrophy 12 tests
  • PCWH syndrome4 tests
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease4 tests
  • Pendred syndrome1 test
  • Periodic fever syndrome1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular laminar heterotopia2 tests
  • Periventricular nodular heterotopia2 tests
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisome biogenesis disorder3 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A (Zellweger)1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B2 tests
  • Perrault syndrome 11 test
  • Perrault syndrome 52 tests
  • Perry syndrome7 tests
  • Persistent polyclonal B-cell lymphocytosis1 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome2 tests
  • PGM1-congenital disorder of glycosylation1 test
  • PHARC syndrome2 tests
  • Phenylketonuria1 test
  • Pheochromocytoma6 tests
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Phytanic acid storage disease4 tests
  • Pick disease2 tests
  • Piebaldism1 test
  • Pigmentary pallidal degeneration6 tests
  • Pigmentary retinal dystrophy4 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented paravenous retinochoroidal atrophy1 test
  • Pilomatrixoma1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 22 tests
  • Pituitary hormone deficiency, combined, 11 test
  • Pituitary hormone deficiency, combined, 21 test
  • Pituitary hormone deficiency, combined, 61 test
  • Pityriasis rubra pilaris1 test
  • Platyspondylic dysplasia, Torrance type2 tests
  • PMM2-congenital disorder of glycosylation2 tests
  • Poikiloderma with neutropenia1 test
  • POLG-related disorder4 tests
  • POLR3-related leukodystrophy1 test
  • Polycystic kidney disease 22 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 15 tests
  • Polydactyly, postaxial, type A13 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymicrogyria3 tests
  • Polymicrogyria with optic nerve hypoplasia3 tests
  • Polysyndactyly 43 tests
  • Pontocerebellar hypoplasia type 1A6 tests
  • Pontocerebellar hypoplasia type 1B3 tests
  • Pontocerebellar hypoplasia type 22 tests
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B3 tests
  • Pontocerebellar hypoplasia type 2C3 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 32 tests
  • Pontocerebellar hypoplasia type 44 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 65 tests
  • Pontoneocerebellar hypoplasia3 tests
  • Popliteal pterygium syndrome1 test
  • Porencephalic cyst2 tests
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome2 tests
  • Postmenopausal osteoporosis1 test
  • Potassium-aggravated myotonia2 tests
  • Prader-Willi syndrome1 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Primary CD59 deficiency1 test
  • Primary ciliary dyskinesia1 test
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 121 test
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 161 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 182 tests
  • Primary ciliary dyskinesia 192 tests
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 221 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary ciliary dyskinesia 261 test
  • Primary ciliary dyskinesia 272 tests
  • Primary ciliary dyskinesia 291 test
  • Primary ciliary dyskinesia 31 test
  • Primary ciliary dyskinesia 301 test
  • Primary ciliary dyskinesia 41 test
  • Primary ciliary dyskinesia 51 test
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 81 test
  • Primary ciliary dyskinesia 91 test
  • Primary erythromelalgia1 test
  • Primary Familial Brain Calcification 51 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II1 test
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency2 tests
  • Primary myelofibrosis2 tests
  • Primary open angle glaucoma1 test
  • Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 15 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 42 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 52 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 15 tests
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive myoclonic epilepsy type 33 tests
  • Progressive myoclonic epilepsy type 52 tests
  • Progressive myoclonic epilepsy type 64 tests
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia2 tests
  • Progressive sclerosing poliodystrophy5 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Properdin deficiency, X-linked1 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 2A1 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoaldosteronism, type IB1, autosomal recessive3 tests
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C1 test
  • Psoriatic arthritis, susceptibility to1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyogenic bacterial infections due to MyD88 deficiency1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Pyruvate kinase hyperactivity1 test
  • RAB23-related Carpenter syndrome1 test
  • Rapadilino syndrome1 test
  • Recessive dystrophic epidermolysis bullosa-generalized other1 test
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency1 test
  • Recurrent Neisseria infections due to factor D deficiency1 test
  • Renal carnitine transport defect1 test
  • Renal dysplasia and retinal aplasia3 tests
  • Renal hypodysplasia/aplasia 11 test
  • Renal hypomagnesemia 41 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renal tubular dysgenesis1 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Renpenning syndrome4 tests
  • Restrictive cardiomyopathy1 test
  • Retinal arterial tortuosity1 test
  • Retinal cone dystrophy 3A1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal dystrophy with or without macular staphyloma1 test
  • Retinal macular dystrophy type 22 tests
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations5 tests
  • Retinitis pigmentosa3 tests
  • Retinitis pigmentosa 13 tests
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 203 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 272 tests
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 33 tests
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 373 tests
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 43 tests
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 503 tests
  • Retinitis pigmentosa 512 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 73 tests
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 91 test
  • RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
  • Retinitis pigmentosa-deafness syndrome1 test
  • Rett syndrome4 tests
  • Rett syndrome, congenital variant2 tests
  • Revesz syndrome2 tests
  • Reynolds syndrome1 test
  • RFT1-congenital disorder of glycosylation2 tests
  • Rhizomelic chondrodysplasia punctata1 test
  • Rhizomelic chondrodysplasia punctata type 14 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 33 tests
  • RIDDLE syndrome1 test
  • Rieger anomaly1 test
  • RIN2 syndrome2 tests
  • Ring dermoid of cornea1 test
  • Rippling muscle disease 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow-Sorauf syndrome1 test
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
  • Roussy-Lévy syndrome2 tests
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2 tests
  • Saethre-Chotzen syndrome2 tests
  • Salla disease2 tests
  • Sandhoff disease1 test
  • Sarcotubular myopathy1 test
  • Scapuloperoneal spinal muscular atrophy4 tests
  • Schaaf-Yang syndrome1 test
  • Schimke immuno-osseous dysplasia2 tests
  • Schinzel-Giedion syndrome1 test
  • Schizencephaly3 tests
  • Schneckenbecken dysplasia2 tests
  • Schwannomatosis 11 test
  • Schwartz-Jampel syndrome2 tests
  • Schwartz-Jampel Syndrome, Type 101 test
  • Schwartz-Jampel Syndrome, Type 111 test
  • Schwartz-Jampel Syndrome, Type 31 test
  • Schwartz-Jampel Syndrome, Type 41 test
  • Schwartz-Jampel Syndrome, Type 51 test
  • Schwartz-Jampel Syndrome, Type 61 test
  • Schwartz-Jampel Syndrome, Type 71 test
  • Schwartz-Jampel Syndrome, Type 81 test
  • Schwartz-Jampel Syndrome, Type 91 test
  • Sclerosteosis 21 test
  • Sea-blue histiocyte syndrome1 test
  • Seckel syndrome3 tests
  • Seckel syndrome 13 tests
  • Seckel syndrome 24 tests
  • Seckel syndrome 43 tests
  • Seckel syndrome 53 tests
  • Seckel syndrome 64 tests
  • Seckel syndrome 83 tests
  • Seizures, benign familial infantile, 23 tests
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial neonatal, 11 test
  • Seizures, benign familial neonatal, 21 test
  • Selective pituitary resistance to thyroid hormone1 test
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 15 tests
  • Senior-Loken Syndrome 103 tests
  • Senior-Loken Syndrome 113 tests
  • Senior-Loken Syndrome 123 tests
  • Senior-Loken Syndrome 132 tests
  • Senior-Loken Syndrome 142 tests
  • Senior-Loken Syndrome 152 tests
  • Senior-Loken syndrome 44 tests
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 73 tests
  • Senior-Loken syndrome 83 tests
  • Senior-Loken syndrome 93 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis5 tests
  • Septo-optic dysplasia sequence2 tests
  • SERKAL syndrome1 test
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome3 tests
  • Severe early-childhood-onset retinal dystrophy3 tests
  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe neurodegenerative syndrome with lipodystrophy2 tests
  • Severe X-linked mitochondrial encephalomyopathy2 tests
  • Severe X-linked myotubular myopathy2 tests
  • Short QT syndrome1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 32 tests
  • Short-rib thoracic dysplasia 6 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 7 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Shwachman-Diamond syndrome 13 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis type 21 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Skin/hair/eye pigmentation, variation in, 111 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation3 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Smith-McCort dysplasia 11 test
  • Smith-McCort dysplasia 21 test
  • Solitary median maxillary central incisor syndrome1 test
  • Somatotroph adenoma1 test
  • Sotos syndrome3 tests
  • Spastic ataxia 32 tests
  • Spastic ataxia 42 tests
  • Spastic ataxia 51 test
  • Spastic Paraplegia 281 test
  • Spastic Paraplegia 511 test
  • Spastic Paraplegia 521 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 73 tests
  • Spinocerebellar ataxia type 13 tests
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 133 tests
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar ataxia type 15/162 tests
  • Spinocerebellar ataxia type 175 tests
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 26 tests
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 232 tests
  • Spinocerebellar ataxia type 273 tests
  • Spinocerebellar ataxia type 284 tests
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 311 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar Ataxia Type191 test
  • Spinocerebellar ataxia with epilepsy5 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 26 tests
  • Split hand-foot malformation 41 test
  • Split hand-foot malformation 61 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type4 tests
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita2 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondyloepiphyseal dysplasia with metatarsal shortening1 test
  • Spondylometaphyseal dysplasia1 test
  • Spondylometaphyseal dysplasia, Kozlowski type3 tests
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
  • Spondyloperipheral dysplasia1 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • Spongy degeneration of central nervous system6 tests
  • Squamous cell carcinoma of the head and neck1 test
  • SRD5A3-congenital disorder of glycosylation2 tests
  • Stargardt disease1 test
  • Stargardt disease 34 tests
  • Stargardt disease 42 tests
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
  • Sterol carrier protein 2 deficiency2 tests
  • Stickler syndrome2 tests
  • Stickler syndrome type 13 tests
  • Stickler syndrome type 22 tests
  • Stickler syndrome, type 43 tests
  • Stickler syndrome, type 53 tests
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • STT3A-congenital disorder of glycosylation2 tests
  • STT3B-congenital disorder of glycosylation2 tests
  • Sturge-Weber syndrome2 tests
  • Stuve-Wiedemann syndrome2 tests
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C3 tests
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 13 tests
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Symmetrical dyschromatosis of extremities4 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly type 32 tests
  • Syndactyly type 51 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic microphthalmia type 52 tests
  • Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Najm type3 tests
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Synpolydactyly type 11 test
  • Systemic lupus erythematosus4 tests
  • Systemic mast cell disease1 test
  • TARDBP-related frontotemporal dementia5 tests
  • TARP syndrome2 tests
  • Tay-Sachs disease6 tests
  • Tay-Sachs disease, B variant, adult form5 tests
  • TCR-alpha-beta-positive T-cell deficiency1 test
  • TCTN2-Related Joubert Syndrome4 tests
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome1 test
  • Tetralogy of Fallot5 tests
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thrombocythemia 21 test
  • Thrombocythemia 31 test
  • Thrombocytopenia 11 test
  • Thrombocytopenia 21 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thyroglobulin synthesis defect1 test
  • Thyroid dyshormonogenesis 11 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid gland carcinoma1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Thyrotoxic periodic paralysis, susceptibility to, 31 test
  • Tibial muscular dystrophy2 tests
  • Tietz syndrome1 test
  • Timothy syndrome1 test
  • TMEM165-congenital disorder of glycosylation1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Tooth agenesis, selective, 11 test
  • Torsion dystonia 45 tests
  • Torsion dystonia 63 tests
  • Townes-Brocks syndrome 12 tests
  • Transcobalamin II deficiency2 tests
  • Transposition of the great arteries, dextro-looped1 test
  • Treacher Collins syndrome1 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Tremor, hereditary essential, 41 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichorhinophalangeal syndrome, type III2 tests
  • Trichothiodystrophy 1, photosensitive5 tests
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Triphalangeal thumb-polysyndactyly syndrome1 test
  • Tropical pancreatitis1 test
  • Troyer syndrome4 tests
  • Trypsinogen deficiency1 test
  • Tuberous sclerosis 13 tests
  • Tuberous Sclerosis 101 test
  • Tuberous Sclerosis 111 test
  • Tuberous Sclerosis 121 test
  • Tuberous Sclerosis 131 test
  • Tuberous Sclerosis 141 test
  • Tuberous Sclerosis 151 test
  • Tuberous Sclerosis 161 test
  • Tuberous Sclerosis 171 test
  • Tuberous Sclerosis 181 test
  • Tuberous sclerosis 23 tests
  • Tuberous Sclerosis 31 test
  • Tuberous Sclerosis 41 test
  • Tuberous Sclerosis 51 test
  • Tuberous Sclerosis 61 test
  • Tuberous Sclerosis 71 test
  • Tuberous Sclerosis 81 test
  • Tuberous Sclerosis 91 test
  • Tuberous sclerosis syndrome1 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 11 test
  • TWIST1-related craniosynostosis1 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus2 tests
  • Type A2 brachydactyly1 test
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosinemia type I1 test
  • Ullrich congenital muscular dystrophy 1A2 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome4 tests
  • Upshaw-Schulman syndrome2 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 1B1 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1E1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1H1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 1K1 test
  • Usher syndrome type 21 test
  • Usher syndrome type 2A2 tests
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D2 tests
  • Usher syndrome type 32 tests
  • Usher syndrome type 3B1 test
  • UV-induced skin damage, susceptibility to1 test
  • UV-sensitive syndrome 11 test
  • UV-sensitive syndrome 21 test
  • VACTERL with hydrocephalus1 test
  • Van Buchem disease type 21 test
  • Van der Woude syndrome 11 test
  • Vanishing white matter disease3 tests
  • Velocardiofacial syndrome1 test
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 32 tests
  • Visceral heterotaxy1 test
  • Visceral myopathy 11 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy 22 tests
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • von Willebrand disease type 31 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 21 test
  • Waardenburg syndrome type 2A2 tests
  • Waardenburg syndrome type 2B1 test
  • Waardenburg syndrome type 2C1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome2 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 23 tests
  • Warburg micro syndrome 32 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
  • Weaver syndrome2 tests
  • Welander distal myopathy3 tests
  • Werner syndrome1 test
  • Wieacker-Wolff syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Wilson disease4 tests
  • Wilson-Turner syndrome1 test
  • Wiskott-Aldrich syndrome2 tests
  • Wolcott-Rallison dysplasia1 test
  • Wolfram syndrome1 test
  • Wolfram syndrome 11 test
  • Wolfram Syndrome-Like Disease1 test
  • Wolfram-like syndrome1 test
  • Woodhouse-Sakati syndrome1 test
  • Woolly hair-skin fragility syndrome1 test
  • Wooly hair-palmoplantar keratoderma syndrome2 tests
  • Worth disease1 test
  • X-linked agammaglobulinemia1 test
  • X-linked Alport syndrome1 test
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked cone-rod dystrophy 11 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked distal spinal muscular atrophy type 31 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
  • X-linked dystonia-parkinsonism3 tests
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked erythropoietic protoporphyria1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
  • X-linked lissencephaly with abnormal genitalia3 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked lymphoproliferative disease due to XIAP deficiency1 test
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked myopathy with excessive autophagy1 test
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked Opitz G/BBB syndrome1 test
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked scapuloperoneal muscular dystrophy1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia 11 test
  • X-linked sideroblastic anemia with ataxia2 tests
  • Xeroderma pigmentosum4 tests
  • Xeroderma pigmentosum group A4 tests
  • Xeroderma pigmentosum group B4 tests
  • Xeroderma pigmentosum variant type3 tests
  • Xeroderma pigmentosum, group C4 tests
  • Xeroderma pigmentosum, group D6 tests
  • Xeroderma pigmentosum, group E3 tests
  • Xeroderma pigmentosum, group F5 tests
  • Xeroderma pigmentosum, group G5 tests
  • XFE progeroid syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Mutation Confirmation
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D2130225, Expiration date: 2025-06-20
  • CAP, Number: 8848535, Expiration date: 2026-03-04
  • ISO15189, Number: D-ML-13206-01-00, Expiration date: 2027-02-24

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.