Molecular Vision Laboratory

Personnel

Director: John Chiang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 503-227-3179
Fax: 503-227-3157
Email: inquiry@mvisionlab.com

Conditions and tests

1565 conditions/phenotypes with 124 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
2-hydroxyglutaric aciduria2 tests
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
3-methylglutaconic aciduria type 12 tests
3-Methylglutaconic aciduria type 21 test
3-Methylglutaconic aciduria type 32 tests
3-methylglutaconic aciduria type 52 tests
3-methylglutaconic aciduria type 82 tests
3-methylglutaconic aciduria type 92 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
3-methylglutaconic aciduria, type VIIB2 tests
ABCD syndrome4 tests
Abetalipoproteinaemia3 tests
Abortive cerebellar ataxia1 test
ABri amyloidosis3 tests
Acetyl-CoA: carboxylase deficiency2 tests
Achondrogenesis type II1 test
Achromatopsia3 tests
Achromatopsia 25 tests
Achromatopsia 35 tests
Achromatopsia 45 tests
Achromatopsia 51 test
Achromatopsia 74 tests
Acrocallosal syndrome4 tests
Acromicric dysplasia1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
Acyl-CoA dehydrogenase 9 deficiency2 tests
ADan amyloidosis3 tests
Adrenoleukodystrophy2 tests
Adult neuronal ceroid lipofuscinosis3 tests
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
Adult-onset foveomacular vitelliform dystrophy5 tests
Aganglionic megacolon2 tests
Age related macular degeneration 13 tests
Age related macular degeneration 141 test
Age related macular degeneration 25 tests
Age related macular degeneration 43 tests
Age related macular degeneration 52 tests
Age related macular degeneration 64 tests
Age related macular degeneration 71 test
Age related macular degeneration 81 test
Age related macular degeneration 91 test
Al-Gazali syndrome1 test
Alagille syndrome due to a JAG1 point mutation3 tests
ALDH18A1-related de Barsy syndrome1 test
ALG1-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
Alpha-methylacyl-CoA racemase deficiency2 tests
Alport syndrome1 test
Alstrom syndrome3 tests
Alveolar rhabdomyosarcoma2 tests
Alzheimer disease, susceptibility to, mitochondrial1 test
Amaurosis-hypertrichosis syndrome3 tests
Aminoglycoside antibacterials response1 test
Aminoglycoside-induced deafness2 tests
Amish lethal microcephaly2 tests
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 42 tests
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis, susceptibility to, 241 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aniridia 12 tests
Aniridia 21 test
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome3 tests
Anterior segment dysgenesis1 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 32 tests
Anterior segment dysgenesis 42 tests
Anterior segment dysgenesis 61 test
Anterior segment dysgenesis 71 test
Anterior segment dysgenesis 81 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Arginine:glycine amidinotransferase deficiency2 tests
Arterial calcification, generalized, of infancy, 22 tests
Asphyxiating thoracic dystrophy 13 tests
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 31 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome3 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome3 tests
Atelosteogenesis type I1 test
Atelosteogenesis type III1 test
Atrial septal defect 71 test
Atrioventricular septal defect and common atrioventricular junction1 test
Atrioventricular septal defect, susceptibility to, 21 test
Atrophia bulborum hereditaria6 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Auditory neuropathy-optic atrophy syndrome2 tests
Autosomal dominant Alport syndrome2 tests
Autosomal dominant centronuclear myopathy2 tests
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2 tests
Autosomal dominant keratitis3 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome4 tests
Autosomal dominant mitochondrial myopathy with exercise intolerance2 tests
Autosomal dominant nonsyndromic hearing loss 114 tests
Autosomal dominant nonsyndromic hearing loss 132 tests
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 3A4 tests
Autosomal dominant nonsyndromic hearing loss 3B4 tests
Autosomal dominant nonsyndromic hearing loss 64 tests
Autosomal dominant optic atrophy classic form5 tests
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
Autosomal dominant progressive external ophthalmoplegia1 test
Autosomal dominant vitreoretinochoroidopathy4 tests
Autosomal recessive Alport syndrome2 tests
Autosomal recessive ataxia due to ubiquinone deficiency2 tests
Autosomal recessive bestrophinopathy4 tests
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive inherited pseudoxanthoma elasticum2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive nonsyndromic hearing loss 124 tests
Autosomal recessive nonsyndromic hearing loss 18A4 tests
Autosomal recessive nonsyndromic hearing loss 1A4 tests
Autosomal recessive nonsyndromic hearing loss 1B2 tests
Autosomal recessive nonsyndromic hearing loss 24 tests
Autosomal recessive nonsyndromic hearing loss 235 tests
Autosomal recessive nonsyndromic hearing loss 314 tests
Autosomal recessive nonsyndromic hearing loss 361 test
Autosomal recessive nonsyndromic hearing loss 484 tests
Autosomal recessive nonsyndromic hearing loss 532 tests
Autosomal recessive nonsyndromic hearing loss 702 tests
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 892 tests
Autosomal recessive optic atrophy, OPA7 type4 tests
Autosomal recessive Parkinson disease 141 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 102 tests
Autosomal recessive spinocerebellar ataxia 22 tests
Avascular necrosis of femoral head, primary, 11 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 12 tests
Axenfeld-Rieger syndrome type 32 tests
Axial spondylometaphyseal dysplasia1 test
Ayme-Gripp syndrome1 test
Baller-Gerold syndrome1 test
Bardet-Biedl syndrome20 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 104 tests
Bardet-Biedl syndrome 114 tests
Bardet-Biedl syndrome 124 tests
Bardet-Biedl syndrome 135 tests
Bardet-Biedl syndrome 147 tests
Bardet-Biedl syndrome 153 tests
Bardet-Biedl syndrome 164 tests
Bardet-Biedl syndrome 174 tests
Bardet-Biedl syndrome 184 tests
Bardet-Biedl syndrome 194 tests
Bardet-Biedl syndrome 24 tests
Bardet-Biedl syndrome 221 test
Bardet-Biedl syndrome 33 tests
Bardet-Biedl syndrome 44 tests
Bardet-Biedl syndrome 54 tests
Bardet-Biedl syndrome 63 tests
Bardet-Biedl syndrome 74 tests
Bardet-Biedl syndrome 84 tests
Bardet-Biedl syndrome 94 tests
Basal cell carcinoma, susceptibility to, 11 test
Basal laminar drusen3 tests
Benign familial hematuria2 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy4 tests
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency2 tests
BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION1 test
Blau syndrome1 test
Blood group, I system1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone osteosarcoma1 test
Boomerang dysplasia1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome4 tests
Bothnia retinal dystrophy3 tests
Brachyolmia-amelogenesis imperfecta syndrome1 test
Bradyopsia3 tests
Brain small vessel disease 1 with or without ocular anomalies2 tests
Branchiootic syndrome 11 test
Branchiootorenal Spectrum Disorders1 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Bruck syndrome 21 test
CADDS1 test
CARASIL syndrome1 test
Cardiac, facial, and digital anomalies with developmental delay1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42 tests
Cardiomyopathy, mitochondrial1 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
Carney-Stratakis syndrome2 tests
Carnitine acylcarnitine translocase deficiency2 tests
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Carnitine palmitoyltransferase I deficiency , muscle1 test
Carnitine palmitoyltransferase II deficiency1 test
Cataract 1 multiple types1 test
Cataract 10 multiple types1 test
Cataract 11 multiple types2 tests
Cataract 12 multiple types1 test
Cataract 13 with adult I phenotype1 test
Cataract 14 multiple types1 test
Cataract 15 multiple types1 test
Cataract 16 multiple types1 test
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 19 multiple types1 test
Cataract 2, multiple types1 test
Cataract 20 multiple types1 test
Cataract 21 multiple types1 test
Cataract 22 multiple types1 test
Cataract 231 test
Cataract 3 multiple types1 test
Cataract 31 multiple types1 test
Cataract 331 test
Cataract 34 multiple types1 test
Cataract 361 test
Cataract 383 tests
Cataract 39 multiple types1 test
Cataract 4 multiple types1 test
Cataract 401 test
Cataract 414 tests
Cataract 421 test
Cataract 5 multiple types1 test
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2 tests
Cataracts, Autosomal Dominant1 test
Cenani-Lenz syndactyly syndrome1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
Cerebrooculofacioskeletal syndrome 11 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)4 tests
Ceroid lipofuscinosis, neuronal, 6A5 tests
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1 test
Charcot-Marie-Tooth disease axonal type 2CC1 test
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease dominant intermediate B2 tests
Charcot-Marie-Tooth disease recessive intermediate A2 tests
Charcot-Marie-Tooth disease recessive intermediate B2 tests
Charcot-Marie-Tooth disease recessive intermediate D2 tests
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 2A24 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 4A2 tests
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4G3 tests
Charcot-Marie-Tooth disease type 4K2 tests
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 42 tests
Charcot-Marie-Tooth disease X-linked recessive 53 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 11 test
Charcot-Marie-Tooth disease, axonal, type 2EE2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, type IA1 test
CHARGE syndrome2 tests
Charlevoix-Saguenay spastic ataxia2 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease2 tests
Choroidal dystrophy, central areolar 26 tests
Choroideremia5 tests
Chédiak-Higashi syndrome2 tests
Citrullinemia type II1 test
Citrullinemia, type II, adult-onset1 test
Classic homocystinuria1 test
CLN14 Disease3 tests
COACH syndrome1 test
COACH syndrome 13 tests
Cobalamin C disease3 tests
Cockayne syndrome2 tests
Cockayne syndrome type 12 tests
Cockayne syndrome type 22 tests
CODAS syndrome2 tests
Coenzyme Q10 deficiency, primary, 12 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coenzyme q10 deficiency, primary, 92 tests
Cohen syndrome3 tests
Coloboma of optic nerve3 tests
Coloboma, ocular, autosomal dominant1 test
Coloboma, ocular, autosomal recessive1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Colobomatous microphthalmia-rhizomelic dysplasia syndrome2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome2 tests
Colorectal cancer2 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 112 tests
Combined oxidative phosphorylation defect type 132 tests
Combined oxidative phosphorylation defect type 142 tests
Combined oxidative phosphorylation defect type 152 tests
Combined oxidative phosphorylation defect type 172 tests
Combined oxidative phosphorylation defect type 22 tests
Combined oxidative phosphorylation defect type 202 tests
Combined oxidative phosphorylation defect type 212 tests
Combined oxidative phosphorylation defect type 232 tests
Combined oxidative phosphorylation defect type 242 tests
Combined oxidative phosphorylation defect type 252 tests
Combined oxidative phosphorylation defect type 262 tests
Combined oxidative phosphorylation defect type 272 tests
Combined oxidative phosphorylation defect type 302 tests
Combined oxidative phosphorylation defect type 42 tests
Combined oxidative phosphorylation defect type 73 tests
Combined oxidative phosphorylation defect type 82 tests
Combined oxidative phosphorylation defect type 92 tests
Combined oxidative phosphorylation deficiency 192 tests
Combined oxidative phosphorylation deficiency 222 tests
Combined oxidative phosphorylation deficiency 282 tests
Combined oxidative phosphorylation deficiency 322 tests
Combined oxidative phosphorylation deficiency 332 tests
Combined oxidative phosphorylation deficiency 342 tests
Combined oxidative phosphorylation deficiency 352 tests
Combined oxidative phosphorylation deficiency 362 tests
Combined oxidative phosphorylation deficiency 372 tests
Combined oxidative phosphorylation deficiency 382 tests
Combined oxidative phosphorylation deficiency 392 tests
Combined oxidative phosphorylation deficiency 402 tests
Combined oxidative phosphorylation deficiency 412 tests
Combined oxidative phosphorylation deficiency 422 tests
Combined oxidative phosphorylation deficiency 432 tests
Combined oxidative phosphorylation deficiency 442 tests
Combined oxidative phosphorylation deficiency 452 tests
Combined oxidative phosphorylation deficiency 462 tests
Combined oxidative phosphorylation deficiency 482 tests
Combined oxidative phosphorylation deficiency 512 tests
Complement component 2 deficiency1 test
Complement component 3 deficiency1 test
Complement factor b deficiency1 test
Complex V deficiency1 test
Cone dystrophy 34 tests
Cone dystrophy 45 tests
Cone dystrophy with supernormal rod response4 tests
Cone monochromatism4 tests
Cone-rod dystrophy11 tests
Cone-rod dystrophy 104 tests
Cone-rod dystrophy 114 tests
Cone-rod dystrophy 125 tests
Cone-rod dystrophy 135 tests
Cone-rod dystrophy 154 tests
Cone-rod dystrophy 165 tests
Cone-rod dystrophy 184 tests
Cone-rod dystrophy 195 tests
Cone-rod dystrophy 27 tests
Cone-rod dystrophy 204 tests
Cone-rod dystrophy 214 tests
Cone-rod dystrophy 35 tests
Cone-rod dystrophy 54 tests
Cone-rod dystrophy 65 tests
Cone-rod dystrophy 74 tests
Cone-rod dystrophy 94 tests
Cone-rod dystrophy and hearing loss 11 test
Cone-rod synaptic disorder syndrome, congenital nonprogressive1 test
Cone-rod synaptic disorder, congenital nonprogressive5 tests
Congenital adrenal hyperplasia1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 42 tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation3 tests
Congenital heart defects, multiple types, 61 test
Congenital hypotrichosis with juvenile macular dystrophy4 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome4 tests
Congenital lactase deficiency1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2 tests
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 191 test
Congenital myasthenic syndrome 1A1 test
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 211 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital ocular coloboma1 test
Congenital primary aphakia2 tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome4 tests
Congenital stationary night blindness5 tests
Congenital stationary night blindness 1A4 tests
Congenital stationary night blindness 1B4 tests
Congenital stationary night blindness 1C5 tests
Congenital stationary night blindness 1D4 tests
Congenital stationary night blindness 1E4 tests
Congenital stationary night blindness 1F4 tests
Congenital stationary night blindness 1H1 test
Congenital stationary night blindness 2A5 tests
Congenital stationary night blindness autosomal dominant 14 tests
Congenital stationary night blindness autosomal dominant 24 tests
Congenital stationary night blindness autosomal dominant 34 tests
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations1 test
COPD, severe early onset1 test
Cornea plana 21 test
Corneal dystrophy, lattice type 3A1 test
COVID-194 tests
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Craniofacial-deafness-hand syndrome3 tests
Craniolenticulosutural dysplasia1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Creatine transporter deficiency2 tests
Curry-Hall syndrome1 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A1 test
D,L-2-hydroxyglutaric aciduria1 test
Danon disease2 tests
DE SANCTIS-CACCHIONE SYNDROME2 tests
Deafness dystonia syndrome4 tests
Deafness, congenital, and adult-onset progressive leukoencephalopathy2 tests
Deafness, digenic, GJB2/GJB34 tests
Deafness, digenic, GJB2/GJB63 tests
Deafness, mitochondrial, modifier of1 test
Deafness, X-linked 52 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase1 test
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dejerine-Sottas disease1 test
Dent disease type 21 test
Desmoid disease, hereditary1 test
Developmental and epileptic encephalopathy, 13 tests
Developmental and epileptic encephalopathy, 243 tests
Developmental and epileptic encephalopathy, 392 tests
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 512 tests
Developmental and epileptic encephalopathy, 752 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2 tests
Dilated cardiomyopathy 1GG2 tests
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1X2 tests
Distichiasis-lymphedema syndrome2 tests
Donnai-Barrow syndrome1 test
Doyne honeycomb retinal dystrophy5 tests
DPAGT1-congenital disorder of glycosylation1 test
Duane retraction syndrome 21 test
Dyschromatosis universalis hereditaria 32 tests
Dystonia 91 test
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
Ectopia lentis 1, isolated, autosomal dominant1 test
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
EEM syndrome4 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
Encephalopathy due to GLUT1 deficiency1 test
Encephalopathy due to mitochondrial and peroxisomal fission defect1 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
Encephalopathy, acute, infection-induced, susceptibility to, 42 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2 tests
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2 tests
Enhanced S-cone syndrome3 tests
Enlarged vestibular aqueduct syndrome1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Ogna type1 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epiphyseal dysplasia, multiple, 22 tests
Epiphyseal dysplasia, multiple, 31 test
Epiphyseal dysplasia, multiple, 62 tests
Episodic ataxia type 21 test
Epithelial basement membrane dystrophy1 test
Erythrokeratodermia variabilis et progressiva 31 test
Essential hypertension, genetic1 test
Ethylmalonic encephalopathy2 tests
Exercise intolerance, riboflavin-responsive2 tests
Exudative vitreoretinopathy 15 tests
Exudative vitreoretinopathy 2, X-linked6 tests
Exudative vitreoretinopathy 45 tests
Exudative vitreoretinopathy 55 tests
Exudative vitreoretinopathy 62 tests
Exudative vitreoretinopathy 71 test
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1 test
Factor H deficiency3 tests
Familial adenomatous polyposis 11 test
Familial aplasia of the vermis2 tests
Familial benign flecked retina3 tests
Familial dysautonomia1 test
Familial hyperkalemic periodic paralysis1 test
Familial hypobetalipoproteinemia 11 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E3 tests
Familial meningioma1 test
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome3 tests
Familial pseudohyperkalemia2 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Fanconi renotubular syndrome 12 tests
Fanconi renotubular syndrome 52 tests
FASTKD2-related infantile mitochondrial encephalomyopathy1 test
Fatal infantile hypertonic myofibrillar myopathy1 test
Fatal infantile mitochondrial cardiomyopathy1 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32 tests
Fatal multiple mitochondrial dysfunctions syndrome1 test
Febrile seizures, familial, 44 tests
Fetal akinesia deformation sequence 11 test
Fetal akinesia deformation sequence 21 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome2 tests
FG syndrome 41 test
Fibrochondrogenesis 11 test
Fibrochondrogenesis 22 tests
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis 71 test
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome2 tests
Foveal hypoplasia 13 tests
Fraser syndrome 11 test
Fraser syndrome 21 test
Fraser syndrome 31 test
Friedreich ataxia 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Fructose-biphosphatase deficiency2 tests
Fumarase deficiency2 tests
Galactosemia 41 test
Gamma-aminobutyric acid transaminase deficiency2 tests
Gastric adenocarcinoma and proximal polyposis of the stomach1 test
Gastric cancer1 test
Gastrointestinal stromal tumor2 tests
Gaze palsy, familial horizontal, with progressive scoliosis, 22 tests
Geleophysic dysplasia 21 test
Geleophysic dysplasia 31 test
Gentamicin response1 test
Gillespie syndrome2 tests
Glaucoma1 test
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma 3, primary infantile, B1 test
Glaucoma 3A2 tests
Glaucoma, normal tension, susceptibility to5 tests
Glaucoma, primary closed-angle1 test
Glucose-6-phosphate transport defect2 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency3 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type V1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
GNPTG-mucolipidosis1 test
Gorlin syndrome1 test
GRACILE syndrome2 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 22 tests
Griscelli syndrome type 32 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions3 tests
Groenouw corneal dystrophy type I1 test
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2 tests
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy2 tests
Guillain-Barre syndrome, familial1 test
Harel-Yoon syndrome2 tests
Hearing loss, autosomal dominant 371 test
Hearing loss, autosomal recessive 942 tests
Hearing loss, sensorineural, autosomal-mitochondrial type1 test
Hearing Loss/Deafness1 test
Helicoid peripapillary chorioretinal degeneration3 tests
Hemolytic anemia due to hexokinase deficiency3 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
Hemorrhage, intracerebral, susceptibility to2 tests
Hepatocellular carcinoma1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 14 tests
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary disease1 test
Hereditary hearing loss and deafness2 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 132 tests
Hereditary spastic paraplegia 312 tests
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 393 tests
Hereditary spastic paraplegia 42 tests
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 5A3 tests
Hereditary spastic paraplegia 72 tests
Hereditary spastic paraplegia 742 tests
Hereditary spastic paraplegia 772 tests
Hereditary spastic paraplegia 9A1 test
Hermansky-Pudlak syndrome2 tests
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 111 test
Hermansky-Pudlak syndrome 23 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
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal1 test
Hidrotic ectodermal dysplasia syndrome4 tests
Hirschsprung disease, susceptibility to, 13 tests
Hirschsprung disease, susceptibility to, 24 tests
Hirschsprung disease, susceptibility to, 44 tests
Holocarboxylase synthetase deficiency2 tests
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 71 test
HSD10 mitochondrial disease2 tests
Huppke-Brendel syndrome1 test
Hurler syndrome1 test
Hurthle cell carcinoma of thyroid2 tests
Hydrolethalus syndrome 11 test
Hydrolethalus syndrome 23 tests
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2 tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2 tests
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperimmunoglobulin D with periodic fever3 tests
Hyperinsulinemic hypoglycemia, familial, 42 tests
Hyperlysinemia1 test
Hyperlysinemia due to defect in lysine transport into mitochondria1 test
Hypermetabolism due to defect in mitochondria1 test
Hyperornithinemia1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation1 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypokalemic periodic paralysis, type 21 test
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial1 test
Hypomyelinating leukodystrophy 42 tests
Hypomyelinating leukodystrophy 92 tests
Hypomyelination and Congenital Cataract1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration3 tests
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia with lactic acidemia and hyperammonemia2 tests
Ichthyosis, hystrix-like, with hearing loss5 tests
Idiopathic CD4 lymphocytopenia4 tests
Inborn mitochondrial myopathy1 test
Incontinentia pigmenti syndrome1 test
Infantile cerebellar-retinal degeneration3 tests
Infantile cortical hyperostosis1 test
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
Infantile liver failure syndrome 12 tests
Infantile liver failure syndrome 21 test
Infantile nephronophthisis3 tests
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia2 tests
Inflammatory bowel disease 11 test
Intellectual developmental disorder with autism and macrocephaly1 test
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies1 test
Intellectual disability, X-linked, with panhypopituitarism2 tests
Intervertebral disc disorder2 tests
Intrauterine growth retardation with increased mitomycin c sensitivity1 test
Irido-corneo-trabecular dysgenesis3 tests
Isolated cryptophthalmia1 test
Isolated microphthalmia 22 tests
Isolated microphthalmia 32 tests
Isolated microphthalmia 45 tests
Isolated microphthalmia 54 tests
Isolated microphthalmia 62 tests
Isolated microphthalmia 72 tests
Isolated microphthalmia 82 tests
Isolated optic nerve hypoplasia3 tests
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome 11 test
Joint laxity, short stature, and myopia1 test
Joubert syndrome 13 tests
Joubert syndrome 105 tests
Joubert syndrome 121 test
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 24 tests
Joubert syndrome 204 tests
Joubert syndrome 214 tests
Joubert syndrome 223 tests
Joubert syndrome 231 test
Joubert syndrome 244 tests
Joubert syndrome 251 test
Joubert syndrome 273 tests
Joubert syndrome 281 test
Joubert syndrome 34 tests
Joubert syndrome 301 test
Joubert syndrome 311 test
Joubert syndrome 321 test
Joubert syndrome 331 test
Joubert syndrome 351 test
Joubert syndrome 57 tests
Joubert syndrome 61 test
Joubert syndrome 74 tests
Joubert syndrome 83 tests
Joubert syndrome 94 tests
Joubert syndrome with renal defect6 tests
Juberg-Hayward syndrome1 test
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile retinitis pigmentosa, AIPL1-related1 test
Juvenile retinoschisis4 tests
Kahrizi syndrome1 test
Kartagener syndrome1 test
Klippel-Feil syndrome 1, autosomal dominant5 tests
Klippel-Feil syndrome 3, autosomal dominant2 tests
Kniest dysplasia1 test
Knobloch syndrome1 test
Knobloch syndrome 11 test
Knuckle pads, deafness AND leukonychia syndrome4 tests
Kufor-Rakeb syndrome1 test
L-ferritin deficiency1 test
LAMB2-related infantile-onset nephrotic syndrome2 tests
Langereis blood group2 tests
Larsen syndrome1 test
Late-onset retinal degeneration3 tests
Lateral meningocele syndrome1 test
Lathosterolosis1 test
Lattice corneal dystrophy Type I1 test
Leber congenital amaurosis4 tests
Leber congenital amaurosis 15 tests
Leber congenital amaurosis 107 tests
Leber congenital amaurosis 114 tests
Leber congenital amaurosis 124 tests
Leber congenital amaurosis 134 tests
Leber congenital amaurosis 144 tests
Leber congenital amaurosis 154 tests
Leber congenital amaurosis 166 tests
Leber congenital amaurosis 175 tests
Leber congenital amaurosis 24 tests
Leber congenital amaurosis 34 tests
Leber congenital amaurosis 45 tests
Leber congenital amaurosis 55 tests
Leber congenital amaurosis 65 tests
Leber congenital amaurosis 76 tests
Leber congenital amaurosis 84 tests
Leber congenital amaurosis 94 tests
Leber congenital amaurosis with early-onset deafness1 test
Leber optic atrophy3 tests
Leber optic atrophy and dystonia1 test
Legg-Calve-Perthes disease1 test
Leigh syndrome3 tests
Leigh syndrome due to mitochondrial complex IV deficiency1 test
Lethal infantile mitochondrial myopathy1 test
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2 tests
Lethal multiple pterygium syndrome1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy, progressive, infantile-onset, with or without deafness2 tests
Leukoencephalopathy, progressive, with ovarian failure2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Linear skin defects with multiple congenital anomalies 12 tests
Linear skin defects with multiple congenital anomalies 23 tests
Linear skin defects with multiple congenital anomalies 32 tests
Lipoic acid synthetase deficiency2 tests
Lipoyl transferase 1 deficiency2 tests
Lissencephaly 9 with complex brainstem malformation1 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Long chain acyl-CoA dehydrogenase deficiency1 test
Lowe syndrome1 test
Lower motor neuron syndrome with late-adult onset2 tests
Lung cancer1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular corneal dystrophy1 test
Macular degeneration, age-related, 31 test
Macular degeneration, X-linked atrophic5 tests
Macular dystrophy with central cone involvement4 tests
Malignant tumor of esophagus2 tests
Malignant tumor of urinary bladder1 test
Marfan syndrome1 test
Marinesco-Sjögren syndrome1 test
Marshall syndrome2 tests
Martsolf syndrome1 test
Martsolf syndrome 11 test
MASS syndrome1 test
Maternally-inherited mitochondrial dystonia1 test
Maternally-inherited mitochondrial myopathy1 test
Matthew-Wood syndrome2 tests
Maturity-onset diabetes of the young type 42 tests
Maturity-onset diabetes of the young type 63 tests
McKusick-Kaufman syndrome5 tests
Meckel syndrome 131 test
Meckel syndrome, type 15 tests
Meckel syndrome, type 102 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 34 tests
Meckel syndrome, type 47 tests
Meckel syndrome, type 51 test
Meckel syndrome, type 64 tests
Meckel syndrome, type 81 test
Meckel syndrome, type 93 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Megaconial type congenital muscular dystrophy2 tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Melanoma-pancreatic cancer syndrome1 test
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2 tests
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome1 test
Mevalonic aciduria3 tests
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 13 tests
Microcephaly and chorioretinopathy 23 tests
Microcephaly and chorioretinopathy 33 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
Microcephaly, growth restriction, and increased sister chromatid exchange 22 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2 tests
Microcornea-myopic chorioretinal atrophy2 tests
Microphthalmia with brain and digit anomalies2 tests
Microphthalmia with limb anomalies1 test
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 52 tests
Microphthalmia, isolated, with coloboma 65 tests
Microphthalmia, isolated, with coloboma 72 tests
Microphthalmia, isolated, with coloboma 92 tests
Microphthalmia, syndromic 12 tests
Microphthalmia, syndromic 112 tests
Microphthalmia, syndromic 122 tests
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1 test
Migraine, familial hemiplegic, 11 test
Mirror movements 12 tests
Mitochondrial complex 1 deficiency, mitochondrial type 11 test
Mitochondrial complex 1 deficiency, nuclear type 102 tests
Mitochondrial complex 1 deficiency, nuclear type 112 tests
Mitochondrial complex 1 deficiency, nuclear type 122 tests
Mitochondrial complex 1 deficiency, nuclear type 132 tests
Mitochondrial complex 1 deficiency, nuclear type 142 tests
Mitochondrial complex 1 deficiency, nuclear type 152 tests
Mitochondrial complex 1 deficiency, nuclear type 162 tests
Mitochondrial complex 1 deficiency, nuclear type 172 tests
Mitochondrial complex 1 deficiency, nuclear type 182 tests
Mitochondrial complex 1 deficiency, nuclear type 192 tests
Mitochondrial complex 1 deficiency, nuclear type 22 tests
Mitochondrial complex 1 deficiency, nuclear type 212 tests
Mitochondrial complex 1 deficiency, nuclear type 222 tests
Mitochondrial complex 1 deficiency, nuclear type 232 tests
Mitochondrial complex 1 deficiency, nuclear type 242 tests
Mitochondrial complex 1 deficiency, nuclear type 252 tests
Mitochondrial complex 1 deficiency, nuclear type 262 tests
Mitochondrial complex 1 deficiency, nuclear type 272 tests
Mitochondrial complex 1 deficiency, nuclear type 282 tests
Mitochondrial complex 1 deficiency, nuclear type 292 tests
Mitochondrial complex 1 deficiency, nuclear type 32 tests
Mitochondrial complex 1 deficiency, nuclear type 302 tests
Mitochondrial complex 1 deficiency, nuclear type 312 tests
Mitochondrial complex 1 deficiency, nuclear type 322 tests
Mitochondrial complex 1 deficiency, nuclear type 332 tests
Mitochondrial complex 1 deficiency, nuclear type 342 tests
Mitochondrial complex 1 deficiency, nuclear type 351 test
Mitochondrial complex 1 deficiency, nuclear type 361 test
Mitochondrial complex 1 deficiency, nuclear type 372 tests
Mitochondrial complex 1 deficiency, nuclear type 42 tests
Mitochondrial complex 1 deficiency, nuclear type 52 tests
Mitochondrial complex 1 deficiency, nuclear type 62 tests
Mitochondrial complex 1 deficiency, nuclear type 72 tests
Mitochondrial complex 1 deficiency, nuclear type 82 tests
Mitochondrial complex 1 deficiency, nuclear type 92 tests
Mitochondrial complex 2 deficiency, nuclear type 22 tests
Mitochondrial complex 2 deficiency, nuclear type 32 tests
Mitochondrial complex 2 deficiency, nuclear type 42 tests
Mitochondrial complex 3 deficiency, nuclear type 101 test
Mitochondrial complex 4 deficiency, nuclear type 102 tests
Mitochondrial complex 4 deficiency, nuclear type 112 tests
Mitochondrial complex 4 deficiency, nuclear type 122 tests
Mitochondrial complex 4 deficiency, nuclear type 142 tests
Mitochondrial complex 4 deficiency, nuclear type 152 tests
Mitochondrial complex 4 deficiency, nuclear type 162 tests
Mitochondrial complex 4 deficiency, nuclear type 172 tests
Mitochondrial complex 4 deficiency, nuclear type 182 tests
Mitochondrial complex 4 deficiency, nuclear type 192 tests
Mitochondrial complex 4 deficiency, nuclear type 201 test
Mitochondrial complex 4 deficiency, nuclear type 212 tests
Mitochondrial complex 4 deficiency, nuclear type 32 tests
Mitochondrial complex 4 deficiency, nuclear type 42 tests
Mitochondrial complex 4 deficiency, nuclear type 72 tests
Mitochondrial complex 4 deficiency, nuclear type 82 tests
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 52 tests
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 11 test
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61 test
Mitochondrial complex I deficiency1 test
Mitochondrial complex I deficiency, mitochondrial type1 test
Mitochondrial complex I deficiency, nuclear type1 test
Mitochondrial complex I deficiency, nuclear type 12 tests
Mitochondrial complex II deficiency, nuclear type 12 tests
Mitochondrial complex III deficiency1 test
Mitochondrial complex III deficiency nuclear type 12 tests
Mitochondrial complex III deficiency nuclear type 22 tests
Mitochondrial complex III deficiency nuclear type 32 tests
Mitochondrial complex III deficiency nuclear type 42 tests
Mitochondrial complex III deficiency nuclear type 52 tests
Mitochondrial complex III deficiency nuclear type 62 tests
Mitochondrial complex III deficiency nuclear type 72 tests
Mitochondrial complex III deficiency nuclear type 82 tests
Mitochondrial complex III deficiency nuclear type 92 tests
Mitochondrial complex III deficiency, nuclear type1 test
Mitochondrial complex IV deficiency, nuclear type 12 tests
Mitochondrial complex IV deficiency, nuclear-type1 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 32 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B2 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 12 tests
Mitochondrial disease4 tests
Mitochondrial disease with dilated cardiomyopathy1 test
Mitochondrial disease with epilepsy1 test
Mitochondrial disease with hypertrophic cardiomyopathy1 test
Mitochondrial disease with peripheral neuropathy1 test
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes1 test
Mitochondrial DNA deletion syndrome with progressive myopathy2 tests
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome1 test
Mitochondrial DNA depletion syndrome 12 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant2 tests
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2 tests
Mitochondrial DNA depletion syndrome 132 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 16 (hepatic type)2 tests
Mitochondrial DNA depletion syndrome 172 tests
Mitochondrial DNA depletion syndrome 182 tests
Mitochondrial DNA depletion syndrome 191 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 4b2 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 92 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form1 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2 tests
Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form1 test
Mitochondrial DNA depletion syndrome, myopathic form2 tests
Mitochondrial DNA maintenance syndrome1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial encephalomyopathy1 test
Mitochondrial encephalopathy1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
Mitochondrial import-stimulating factor1 test
Mitochondrial intermembrane space protein Tim12, yeast, homolog of1 test
Mitochondrial membrane transport disorder1 test
Mitochondrial myopathy with a defect in mitochondrial-protein transport1 test
Mitochondrial myopathy with diabetes1 test
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency1 test
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2 tests
Mitochondrial myopathy, isolated1 test
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2 tests
Mitochondrial myopathy-lactic acidosis-deafness syndrome2 tests
Mitochondrial neurogastrointestinal encephalomyopathy1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mitochondrial oxidative phosphorylation disorder1 test
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA1 test
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA1 test
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA1 test
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies1 test
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies1 test
Mitochondrial oxidative phosphorylation disorder with no known mechanism1 test
Mitochondrial protein import disorder1 test
Mitochondrial proton-transporting ATP synthase complex deficiency1 test
Mitochondrial pyruvate carrier deficiency2 tests
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2 tests
Mitochondrial substrate carrier disorder1 test
Mitochondrial trifunctional protein deficiency2 tests
MORM syndrome5 tests
Mosaic variegated aneuploidy syndrome 11 test
Mowat-Wilson syndrome2 tests
Mpox1 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-III-C3 tests
Mucopolysaccharidosis, MPS-III-D1 test
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple epiphyseal dysplasia, Beighton type2 tests
Multiple mitochondrial DNA deletion syndrome1 test
Multiple mitochondrial dysfunctions syndrome 12 tests
Multiple mitochondrial dysfunctions syndrome 22 tests
Multiple mitochondrial dysfunctions syndrome 32 tests
Multiple mitochondrial dysfunctions syndrome 42 tests
Multiple mitochondrial dysfunctions syndrome 52 tests
Multiple mitochondrial dysfunctions syndrome 62 tests
Multiple system atrophy1 test
Multiple system atrophy 1, susceptibility to1 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, 42 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12 tests
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 (congenital with brain and eye anomalies), type A22 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81 test
Muscular dystrophy-dystroglycanopathy type B52 tests
Muscular dystrophy-dystroglycanopathy type B62 tests
Mutilating keratoderma4 tests
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, congenital, 23, presynaptic2 tests
Myasthenic syndrome, congenital, 24, presynaptic1 test
Myasthenic syndrome, congenital, 25, presynaptic1 test
Myofibrillar myopathy 21 test
Myofibromatosis, infantile, 21 test
Myopathy with abnormal lipid metabolism2 tests
Myopathy with giant abnormal mitochondria1 test
Myopathy, epilepsy, and progressive cerebral atrophy1 test
Myopathy, lactic acidosis, and sideroblastic anemia1 test
Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
Myopia 62 tests
Myopia, high, with cataract and vitreoretinal degeneration1 test
Nail-patella syndrome1 test
Nail-patella-like renal disease1 test
Namaqualand hip dysplasia1 test
Nance-Horan syndrome1 test
Nanophthalmos 11 test
Nanophthalmos 24 tests
Nanophthalmos 42 tests
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2 tests
Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
Nephronophthisis 16 tests
Nephronophthisis 111 test
Nephronophthisis 124 tests
Nephronophthisis 143 tests
Nephronophthisis 153 tests
Nephronophthisis 161 test
Nephronophthisis 201 test
Nephronophthisis 31 test
Nephronophthisis 44 tests
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephronophthisis-like nephropathy 12 tests
Nephrotic syndrome, type 92 tests
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency1 test
Neurodegeneration with ataxia and late-onset optic atrophy2 tests
Neurodegeneration with brain iron accumulation 2B1 test
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1 test
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2 tests
Neuroferritinopathy1 test
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 14 tests
Neuronal ceroid lipofuscinosis 105 tests
Neuronal ceroid lipofuscinosis 113 tests
Neuronal ceroid lipofuscinosis 133 tests
Neuronal ceroid lipofuscinosis 24 tests
Neuronal ceroid lipofuscinosis 35 tests
Neuronal ceroid lipofuscinosis 55 tests
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 85 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant4 tests
Neuronopathy, distal hereditary motor, type 5A2 tests
Neuronopathy, distal hereditary motor, type 5B2 tests
Neuronopathy, distal hereditary motor, type 7A1 test
Neuropathy, hereditary motor and sensory, type 6B4 tests
Newfoundland cone-rod dystrophy3 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
North Carolina macular dystrophy1 test
NPHP3-related Meckel-like syndrome1 test
Nystagmus 1, congenital, X-linked2 tests
Nystagmus 6, congenital, X-linked2 tests
Obesity due to CEP19 deficiency1 test
Occult macular dystrophy4 tests
Ocular albinism with congenital sensorineural hearing loss2 tests
Ocular albinism, type I3 tests
Ocular albinism, type II5 tests
Oculoauricular syndrome4 tests
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 42 tests
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 72 tests
Oculocutaneous albinism type 81 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome2 tests
Ogden syndrome2 tests
Oguchi disease3 tests
Oguchi disease-11 test
Oguchi disease-24 tests
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures4 tests
Optic atrophy 112 tests
Optic atrophy 122 tests
Optic atrophy 13 with retinal and foveal abnormalities1 test
Optic atrophy 35 tests
Optic atrophy 52 tests
Optic atrophy 93 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy5 tests
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency2 tests
Orofacial cleft 112 tests
Orofaciodigital syndrome 161 test
Orofaciodigital syndrome I5 tests
Orofaciodigital syndrome type 141 test
Orofaciodigital syndrome type 64 tests
Osteogenesis imperfecta2 tests
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteoporosis1 test
Osteoporosis with pseudoglioma2 tests
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian dysgenesis 72 tests
Ovarian neoplasm1 test
Palmoplantar keratoderma-deafness syndrome4 tests
Pancreatic agenesis 12 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome2 tests
Panhypopituitarism, X-linked2 tests
Paragangliomas 12 tests
Paragangliomas 22 tests
Paragangliomas 32 tests
Paragangliomas 42 tests
Paragangliomas 52 tests
Paramyotonia congenita of Von Eulenburg1 test
Parkinson disease1 test
Parkinson disease 13, autosomal dominant, susceptibility to2 tests
Patterned dystrophy of the retinal pigment epithelium6 tests
Patterned macular dystrophy 11 test
Patterned macular dystrophy 23 tests
Patterned macular dystrophy 31 test
PCWH syndrome3 tests
Pendred syndrome1 test
Permanent neonatal diabetes mellitus1 test
Peroxisome biogenesis disorder4 tests
Peroxisome biogenesis disorder 10A (Zellweger)3 tests
Peroxisome biogenesis disorder 12A (Zellweger)3 tests
Peroxisome biogenesis disorder 13A (Zellweger)3 tests
Peroxisome biogenesis disorder 14B3 tests
Peroxisome biogenesis disorder 2A (Zellweger)3 tests
Peroxisome biogenesis disorder 3A (Zellweger)3 tests
Peroxisome biogenesis disorder 9B3 tests
Perrault syndrome 22 tests
Perrault syndrome 32 tests
Perrault syndrome 42 tests
Perrault syndrome 52 tests
Perrault syndrome 62 tests
Persistent hyperplastic primary vitreous, autosomal recessive3 tests
Peters plus syndrome2 tests
PHARC syndrome4 tests
Pheochromocytoma2 tests
Phosphate transport defect2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
Phytanic acid storage disease3 tests
Piebaldism2 tests
Pierson syndrome2 tests
Pigmentary retinal dystrophy8 tests
Pigmented paravenous retinochoroidal atrophy4 tests
Pili torti-deafness syndrome2 tests
Pilomatrixoma1 test
Pituitary hormone deficiency, combined, 62 tests
Platyspondylic dysplasia, Torrance type1 test
Pontocerebellar hypoplasia type 62 tests
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal2 tests
Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
Porokeratosis 3, disseminated superficial actinic type3 tests
Portal hypertension, noncirrhotic1 test
Portal hypertension, noncirrhotic, 11 test
Posterior column ataxia-retinitis pigmentosa syndrome3 tests
Potassium-aggravated myotonia1 test
Premature chromatid separation trait1 test
Premature ovarian failure 111 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 181 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary coenzyme Q10 deficiency 82 tests
Primary dilated cardiomyopathy1 test
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection2 tests
Primary open angle glaucoma1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis2 tests
Progressive encephalopathy with leukodystrophy due to DECR deficiency2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 22 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 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 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 32 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 42 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 52 tests
Progressive myoclonic epilepsy type 33 tests
Progressive retinal dystrophy due to retinol transport defect3 tests
Progressive sclerosing poliodystrophy2 tests
Proliferative vitreoretinopathy2 tests
Propionic acidemia2 tests
Prostate cancer, hereditary, 22 tests
Protan defect1 test
Proximal myopathy with extrapyramidal signs2 tests
Proximal myopathy with focal depletion of mitochondria1 test
Pseudo-TORCH syndrome 32 tests
Pseudoexfoliation glaucoma1 test
Pseudoxanthoma elasticum, forme fruste2 tests
Pure mitochondrial myopathy1 test
Pyruvate carboxylase deficiency2 tests
Pyruvate dehydrogenase E1-alpha deficiency2 tests
Pyruvate dehydrogenase E1-beta deficiency2 tests
Pyruvate dehydrogenase E2 deficiency2 tests
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency2 tests
Pyruvate dehydrogenase phosphatase deficiency2 tests
Rapadilino syndrome1 test
RCBTB1-related retinopathy1 test
Recessive dystrophic epidermolysis bullosa1 test
Recessive mitochondrial ataxia syndrome1 test
Red-green dyschromatopsia1 test
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect2 tests
Renal coloboma syndrome4 tests
Renal dysplasia and retinal aplasia6 tests
Renal hypodysplasia/aplasia 12 tests
Renal hypomagnesemia 5 with ocular involvement1 test
Renal-hepatic-pancreatic dysplasia1 test
Renal-hepatic-pancreatic dysplasia 21 test
Retinal arterial tortuosity1 test
Retinal cone dystrophy 3A5 tests
Retinal cone dystrophy 45 tests
Retinal dystrophy3 tests
Retinal dystrophy and obesity3 tests
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies3 tests
Retinal dystrophy with leukodystrophy1 test
Retinal dystrophy with or without macular staphyloma1 test
Retinal macular dystrophy type 25 tests
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations3 tests
Retinitis pigmentosa19 tests
Retinitis pigmentosa 13 tests
Retinitis pigmentosa 104 tests
Retinitis pigmentosa 113 tests
Retinitis pigmentosa 124 tests
Retinitis pigmentosa 133 tests
Retinitis pigmentosa 144 tests
Retinitis pigmentosa 173 tests
Retinitis pigmentosa 183 tests
Retinitis pigmentosa 196 tests
Retinitis pigmentosa 24 tests
Retinitis pigmentosa 204 tests
Retinitis pigmentosa 235 tests
Retinitis pigmentosa 253 tests
Retinitis pigmentosa 264 tests
Retinitis pigmentosa 273 tests
Retinitis pigmentosa 284 tests
Retinitis pigmentosa 35 tests
Retinitis pigmentosa 303 tests
Retinitis pigmentosa 313 tests
Retinitis pigmentosa 321 test
Retinitis pigmentosa 334 tests
Retinitis pigmentosa 354 tests
Retinitis pigmentosa 363 tests
Retinitis pigmentosa 373 tests
Retinitis pigmentosa 383 tests
Retinitis pigmentosa 394 tests
Retinitis pigmentosa 44 tests
Retinitis pigmentosa 404 tests
Retinitis pigmentosa 415 tests
Retinitis pigmentosa 423 tests
Retinitis pigmentosa 433 tests
Retinitis pigmentosa 443 tests
Retinitis pigmentosa 453 tests
Retinitis pigmentosa 464 tests
Retinitis pigmentosa 474 tests
Retinitis pigmentosa 483 tests
Retinitis pigmentosa 493 tests
Retinitis pigmentosa 504 tests
Retinitis pigmentosa 514 tests
Retinitis pigmentosa 544 tests
Retinitis pigmentosa 553 tests
Retinitis pigmentosa 564 tests
Retinitis pigmentosa 573 tests
Retinitis pigmentosa 583 tests
Retinitis pigmentosa 594 tests
Retinitis pigmentosa 603 tests
Retinitis pigmentosa 615 tests
Retinitis pigmentosa 624 tests
Retinitis pigmentosa 663 tests
Retinitis pigmentosa 673 tests
Retinitis pigmentosa 683 tests
Retinitis pigmentosa 693 tests
Retinitis pigmentosa 76 tests
Retinitis pigmentosa 703 tests
Retinitis pigmentosa 715 tests
Retinitis pigmentosa 722 tests
Retinitis pigmentosa 733 tests
Retinitis pigmentosa 751 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 811 test
Retinitis pigmentosa 831 test
Retinitis pigmentosa 851 test
Retinitis pigmentosa 891 test
Retinitis pigmentosa 93 tests
Retinitis pigmentosa 902 tests
Retinitis pigmentosa and erythrocytic microcytosis1 test
Retinitis pigmentosa with or without situs inversus2 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness5 tests
Retinitis pigmentosa-deafness syndrome4 tests
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome1 test
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome3 tests
Retinoblastoma1 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Right atrial isomerism1 test
Ring dermoid of cornea2 tests
Roberts-SC phocomelia syndrome1 test
Rothmund-Thomson syndrome type 21 test
Roussy-Lévy syndrome1 test
RRM2B-related mitochondrial disease1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saldino-Mainzer syndrome4 tests
Sarcotubular myopathy4 tests
Schizencephaly2 tests
Schnyder crystalline corneal dystrophy1 test
Schwannomatosis 11 test
Sclerosteosis 21 test
Scoliosis, isolated, susceptibility to, 31 test
Seckel syndrome 82 tests
Sengers syndrome3 tests
Senior-Loken syndrome 11 test
Senior-loken syndrome 33 tests
Senior-Loken syndrome 41 test
Senior-Loken syndrome 55 tests
Senior-Loken syndrome 66 tests
Senior-Loken syndrome 74 tests
Senior-Loken syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Septo-optic dysplasia sequence3 tests
Severe early-childhood-onset retinal dystrophy6 tests
Severe intellectual disability-progressive spastic diplegia syndrome1 test
Severe X-linked mitochondrial encephalomyopathy2 tests
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1 test
Short-rib thoracic dysplasia 10 with or without polydactyly4 tests
Short-rib thoracic dysplasia 13 with or without polydactyly1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 16 with or without polydactyly1 test
Short-rib thoracic dysplasia 18 with polydactyly1 test
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Sideroblastic anemia 22 tests
Sideroblastic anemia 32 tests
Simpson-Golabi-Behmel syndrome type 25 tests
Singleton-Merten syndrome 21 test
Sjögren-Larsson syndrome1 test
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN2 tests
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR2 tests
Skin/hair/eye pigmentation, variation in, 111 test
Skin/hair/eye pigmentation, variation in, 41 test
Small cell lung carcinoma1 test
Smith-Lemli-Opitz syndrome1 test
Snowflake vitreoretinal degeneration6 tests
Solitary median maxillary central incisor syndrome2 tests
Sorsby fundus dystrophy4 tests
Spastic ataxia 11 test
Spastic ataxia 32 tests
Spastic ataxia 42 tests
Spastic ataxia 52 tests
Spastic tetraplegia and axial hypotonia, progressive2 tests
Spasticity-ataxia-gait anomalies syndrome2 tests
Spinal muscular atrophy, infantile, James type2 tests
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 344 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 32 tests
Spondylocarpotarsal synostosis syndrome1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Spondyloepimetaphyseal dysplasia, Bieganski type2 tests
Spondyloepimetaphyseal dysplasia, Strudwick type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
Spondyloperipheral dysplasia1 test
Squalene synthase deficiency1 test
SRD5A3-congenital disorder of glycosylation1 test
Stargardt disease1 test
Stargardt disease 34 tests
Stargardt disease 45 tests
Stickler syndrome1 test
Stickler syndrome type 12 tests
Stickler syndrome type 22 tests
Stickler syndrome, type 42 tests
Stickler syndrome, type 52 tests
Stickler syndrome, type I, nonsyndromic ocular2 tests
Stiff skin syndrome1 test
Streptomycin response1 test
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 test
Sudden cardiac failure, alcohol-induced2 tests
Sudden cardiac failure, infantile2 tests
Sulfite oxidase deficiency1 test
Syndactyly type 31 test
Syndromic microphthalmia type 56 tests
Syndromic X-linked intellectual disability Najm type2 tests
Temtamy syndrome1 test
Tetralogy of Fallot3 tests
Thiel-Behnke corneal dystrophy1 test
Thrombocytopenia 42 tests
Tietz syndrome3 tests
Tobramycin response1 test
Triokinase and FMN cyclase deficiency syndrome1 test
Type 2 diabetes mellitus2 tests
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism2 tests
UDPglucose-4-epimerase deficiency1 test
Ullrich congenital muscular dystrophy 21 test
Unspecified inborn mitochondrial disorder1 test
Usher syndrome1 test
Usher syndrome type 15 tests
Usher syndrome type 1B1 test
Usher syndrome type 1C5 tests
Usher syndrome type 1D6 tests
Usher syndrome type 1E1 test
Usher syndrome type 1F6 tests
Usher syndrome type 1G5 tests
Usher syndrome type 1H1 test
Usher syndrome type 1J4 tests
Usher syndrome type 22 tests
Usher syndrome type 2A4 tests
Usher syndrome type 2C4 tests
Usher syndrome type 2D2 tests
Usher syndrome type 35 tests
Usher syndrome type 3A2 tests
Usher syndrome type 3B5 tests
Usher syndrome, type 1D/F2 tests
Usher syndrome, type 1M1 test
Usher syndrome, type 41 test
UV-sensitive syndrome 11 test
UV-sensitive syndrome 22 tests
VACTERL association, X-linked, with or without hydrocephalus1 test
Van den Ende-Gupta syndrome1 test
Ventricular septal defect 31 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Vesicoureteral reflux 81 test
Vitelliform macular dystrophy4 tests
Vitelliform macular dystrophy 21 test
Vitelliform macular dystrophy 31 test
Vitelliform macular dystrophy 44 tests
Vitelliform macular dystrophy 54 tests
Vitreoretinopathy with phalangeal epiphyseal dysplasia1 test
Waardenburg syndrome2 tests
Waardenburg syndrome type 14 tests
Waardenburg syndrome type 21 test
Waardenburg syndrome type 2A3 tests
Waardenburg syndrome type 2D3 tests
Waardenburg syndrome type 2E3 tests
Waardenburg syndrome type 34 tests
Waardenburg syndrome type 4A5 tests
Waardenburg syndrome type 4B5 tests
Waardenburg syndrome type 4C4 tests
Wagner syndrome4 tests
Warburg micro syndrome 12 tests
Warburg micro syndrome 22 tests
Warburg micro syndrome 32 tests
Warburg micro syndrome 41 test
Weill-Marchesani 4 syndrome, recessive1 test
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 2, dominant1 test
Weill-Marchesani syndrome 31 test
Wilson disease2 tests
Wolfram syndrome2 tests
Wolfram syndrome 12 tests
Wolfram syndrome 24 tests
Wolfram-like syndrome4 tests
Worth disease1 test
X-linked Alport syndrome2 tests
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome2 tests
X-linked cone-rod dystrophy 15 tests
X-linked cone-rod dystrophy 35 tests
X-linked congenital stationary night blindness1 test
X-linked erythropoietic protoporphyria2 tests
X-linked mixed hearing loss with perilymphatic gusher4 tests
X-linked recessive mitochondrial myopathy1 test
X-linked sideroblastic anemia 12 tests
X-linked sideroblastic anemia with ataxia2 tests
Yao syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Prenatal testing
Custom Sequence Analysis
Carrier testing
Data Storage and Backup
Mutation Confirmation
Whole Exome Sequencing
Infectious diseases

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 38D2059762, Expiration date: 2025-02-23
CAP, Number: 8735023, Expiration date: 2024-11-28

Licenses

CA - California Department of Public Health CDPH, Number: COS00800782, Expiration date: 2024-11-20
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2033, Effective date: 2019-07-01 Non-expiring
PA - Pennsylvania Department of Health PADOH, Number: 33853, Expiration date: 2024-08-15

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.