Molecular Vision Laboratory

General information

Molecular Vision Laboratory

1920 NE Stucki Ave, Suite 150
Hillsboro
Oregon
United States - 97006
https://www.molecularvisionlab.com/
Organization ID: 320256

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 2

    Gene

    GeneSubmissionsLast Updated
    ABCA41Sep 11, 2018
    TYR1Sep 11, 2018

    Condition

    NameSubmissionsLast Updated
    Autosomal recessive ocular albinism1Sep 11, 2018
    Stargardt disease 11Sep 11, 2018

    Testing in GTR

    Disease nameNumber of tests
    2,4-Dienoyl-CoA reductase deficiency1 test
    2-hydroxyglutaric aciduria2 tests
    3-Methylglutaconic aciduria type 11 test
    3-Methylglutaconic aciduria type 21 test
    3-Methylglutaconic aciduria type 32 tests
    3-methylglutaconic aciduria type 91 test
    3-methylglutaconic aciduria type V1 test
    3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1 test
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1 test
    3-methylglutaconic aciduria, type VIII1 test
    ABCD syndrome3 tests
    ABri amyloidosis2 tests
    ADan amyloidosis2 tests
    Abetalipoproteinaemia2 tests
    Abortive cerebellar ataxia1 test
    Acetyl-CoA: carboxylase deficiency1 test
    Achromatopsia3 tests
    Achromatopsia 24 tests
    Achromatopsia 34 tests
    Achromatopsia 44 tests
    Achromatopsia 51 test
    Achromatopsia 73 tests
    Acrocallosal syndrome3 tests
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
    Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
    Adrenoleukodystrophy1 test
    Adult neuronal ceroid lipofuscinosis3 tests
    Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
    Age-related macular degeneration 12 tests
    Age-related macular degeneration 24 tests
    Age-related macular degeneration 42 tests
    Age-related macular degeneration 51 test
    Age-related macular degeneration 63 tests
    Alagille syndrome 12 tests
    Albinism, ocular, with sensorineural deafness2 tests
    Albinism, oculocutaneous, type VII1 test
    Alpha-methylacyl-CoA racemase deficiency1 test
    Alport syndrome1 test
    Alport syndrome 1, X-linked recessive1 test
    Alport syndrome 3, autosomal dominant1 test
    Alport syndrome, autosomal recessive1 test
    Alstrom syndrome2 tests
    Alveolar rhabdomyosarcoma1 test
    Alzheimer disease, susceptibility to, mitochondrial1 test
    Amaurosis-hypertrichosis syndrome3 tests
    Aminoglycoside antibacterials response1 test
    Aminoglycoside-induced deafness1 test
    Amish lethal microcephaly1 test
    Amyotrophic lateral sclerosis type 11 test
    Amyotrophic lateral sclerosis type 41 test
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
    Anemia, sideroblastic, 11 test
    Anemia, sideroblastic, 2, pyridoxine-refractory1 test
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1 test
    Aniridia 11 test
    Anophthalmia-microphthalmia syndrome1 test
    Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
    Anterior segment dysgenesis1 test
    Anterior segment dysgenesis 31 test
    Anterior segment dysgenesis 41 test
    Arginine:glycine amidinotransferase deficiency1 test
    Ataxia, spastic, 3, autosomal recessive1 test
    Ataxia, spastic, 4, autosomal recessive1 test
    Ataxia-hypogonadism-choroidal dystrophy syndrome2 tests
    Ataxia-oculomotor apraxia type 11 test
    Atrophia bulborum hereditaria5 tests
    Atypical hemolytic-uremic syndrome 12 tests
    Auditory neuropathy-optic atrophy syndrome1 test
    Autosomal dominant nonsyndromic deafness 63 tests
    Autosomal dominant optic atrophy classic form4 tests
    Autosomal dominant osteopetrosis 12 tests
    Autosomal dominant progressive external ophthalmoplegia1 test
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11 test
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 21 test
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41 test
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
    Axenfeld-Rieger syndrome type 11 test
    Axenfeld-Rieger syndrome type 31 test
    BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION1 test
    Bardet-Biedl syndrome20 tests
    Bardet-Biedl syndrome 103 tests
    Bardet-Biedl syndrome 113 tests
    Bardet-Biedl syndrome 123 tests
    Bardet-Biedl syndrome 134 tests
    Bardet-Biedl syndrome 146 tests
    Bardet-Biedl syndrome 152 tests
    Bardet-Biedl syndrome 163 tests
    Bardet-Biedl syndrome 173 tests
    Bardet-Biedl syndrome 183 tests
    Bardet-Biedl syndrome 193 tests
    Bardet-Biedl syndrome 23 tests
    Bardet-Biedl syndrome 32 tests
    Bardet-Biedl syndrome 43 tests
    Bardet-Biedl syndrome 53 tests
    Bardet-Biedl syndrome 62 tests
    Bardet-Biedl syndrome 73 tests
    Bardet-Biedl syndrome 83 tests
    Bardet-Biedl syndrome 93 tests
    Basal laminar drusen2 tests
    Benign familial hematuria1 test
    Bestrophinopathy, autosomal recessive3 tests
    Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
    Bietti crystalline corneoretinal dystrophy3 tests
    Biotin-responsive basal ganglia disease1 test
    Biotinidase deficiency1 test
    Bloom syndrome1 test
    Bosch-Boonstra-Schaaf optic atrophy syndrome3 tests
    Bothnia retinal dystrophy2 tests
    Bradyopsia2 tests
    Brain small vessel disease 1 with or without ocular anomalies1 test
    Brain small vessel disease with hemorrhage1 test
    Branchiootorenal Spectrum Disorders1 test
    Bruck syndrome 21 test
    CHARGE association1 test
    CLN14 Disease2 tests
    COACH syndrome 13 tests
    CODAS syndrome1 test
    COVID-195 tests
    Café-au-lait macules with pulmonary stenosis1 test
    Carbonic anhydrase VA deficiency, hyperammonemia due to1 test
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 31 test
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
    Cardiomyopathy, mitochondrial1 test
    Carney-Stratakis syndrome1 test
    Carnitine acylcarnitine translocase deficiency1 test
    Carnitine palmitoyltransferase 1A deficiency1 test
    Carnitine palmitoyltransferase I deficiency , muscle1 test
    Carnitine palmitoyltransferase II deficiency1 test
    Carnitine palmitoyltransferase II deficiency, infantile1 test
    Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
    Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
    Cataract 111 test
    Cataract 413 tests
    Cataract, autosomal recessive congenital 52 tests
    Cataract-intellectual disability-hypogonadism syndrome1 test
    Cataracts, Autosomal Dominant1 test
    Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia1 test
    Ceroid lipofuscinosis neuronal 23 tests
    Ceroid lipofuscinosis, neuronal, 112 tests
    Ceroid lipofuscinosis, neuronal, 132 tests
    Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant3 tests
    Charcot-Marie-Tooth disease axonal type 2K1 test
    Charcot-Marie-Tooth disease type 2D1 test
    Charcot-Marie-Tooth disease, X-linked recessive, type 52 tests
    Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B1 test
    Charcot-Marie-Tooth disease, axonal, mitochondrial form, 11 test
    Charcot-Marie-Tooth disease, axonal, type 2EE1 test
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
    Charcot-Marie-Tooth disease, dominant intermediate B1 test
    Charcot-Marie-Tooth disease, recessive intermediate A1 test
    Charcot-Marie-Tooth disease, recessive intermediate B1 test
    Charcot-Marie-Tooth disease, recessive intermediate d1 test
    Charcot-Marie-Tooth disease, type 2A2A3 tests
    Charcot-Marie-Tooth disease, type 4A1 test
    Charcot-Marie-Tooth disease, type 4k1 test
    Charlevoix-Saguenay spastic ataxia1 test
    Cholestanol storage disease1 test
    Choroidal dystrophy, central areolar 25 tests
    Choroideremia4 tests
    Chédiak-Higashi syndrome1 test
    Citrullinemia type II1 test
    Cobalamin C disease2 tests
    Cockayne syndrome2 tests
    Cockayne syndrome B1 test
    Cockayne syndrome type A1 test
    Coenzyme Q10 deficiency, primary 11 test
    Coenzyme Q10 deficiency, primary, 21 test
    Coenzyme Q10 deficiency, primary, 31 test
    Coenzyme Q10 deficiency, primary, 41 test
    Coenzyme Q10 deficiency, primary, 51 test
    Coenzyme Q10 deficiency, primary, 61 test
    Coenzyme Q10 deficiency, primary, 71 test
    Coenzyme Q10 deficiency, primary, 81 test
    Coenzyme q10 deficiency, primary, 91 test
    Cohen syndrome2 tests
    Coloboma of optic nerve (disease)2 tests
    Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
    Colorectal cancer1 test
    Combined oxidative phosphorylation deficiency 13 tests
    Combined oxidative phosphorylation deficiency 101 test
    Combined oxidative phosphorylation deficiency 111 test
    Combined oxidative phosphorylation deficiency 121 test
    Combined oxidative phosphorylation deficiency 131 test
    Combined oxidative phosphorylation deficiency 141 test
    Combined oxidative phosphorylation deficiency 151 test
    Combined oxidative phosphorylation deficiency 161 test
    Combined oxidative phosphorylation deficiency 171 test
    Combined oxidative phosphorylation deficiency 181 test
    Combined oxidative phosphorylation deficiency 191 test
    Combined oxidative phosphorylation deficiency 21 test
    Combined oxidative phosphorylation deficiency 201 test
    Combined oxidative phosphorylation deficiency 211 test
    Combined oxidative phosphorylation deficiency 221 test
    Combined oxidative phosphorylation deficiency 231 test
    Combined oxidative phosphorylation deficiency 241 test
    Combined oxidative phosphorylation deficiency 251 test
    Combined oxidative phosphorylation deficiency 261 test
    Combined oxidative phosphorylation deficiency 271 test
    Combined oxidative phosphorylation deficiency 281 test
    Combined oxidative phosphorylation deficiency 31 test
    Combined oxidative phosphorylation deficiency 301 test
    Combined oxidative phosphorylation deficiency 311 test
    Combined oxidative phosphorylation deficiency 321 test
    Combined oxidative phosphorylation deficiency 331 test
    Combined oxidative phosphorylation deficiency 341 test
    Combined oxidative phosphorylation deficiency 351 test
    Combined oxidative phosphorylation deficiency 361 test
    Combined oxidative phosphorylation deficiency 371 test
    Combined oxidative phosphorylation deficiency 381 test
    Combined oxidative phosphorylation deficiency 391 test
    Combined oxidative phosphorylation deficiency 41 test
    Combined oxidative phosphorylation deficiency 401 test
    Combined oxidative phosphorylation deficiency 411 test
    Combined oxidative phosphorylation deficiency 421 test
    Combined oxidative phosphorylation deficiency 431 test
    Combined oxidative phosphorylation deficiency 441 test
    Combined oxidative phosphorylation deficiency 451 test
    Combined oxidative phosphorylation deficiency 461 test
    Combined oxidative phosphorylation deficiency 481 test
    Combined oxidative phosphorylation deficiency 51 test
    Combined oxidative phosphorylation deficiency 511 test
    Combined oxidative phosphorylation deficiency 61 test
    Combined oxidative phosphorylation deficiency 72 tests
    Combined oxidative phosphorylation deficiency 81 test
    Combined oxidative phosphorylation deficiency 91 test
    Complex V deficiency1 test
    Cone dystrophy 33 tests
    Cone dystrophy 44 tests
    Cone dystrophy with supernormal rod response3 tests
    Cone monochromatism3 tests
    Cone-rod dystrophy11 tests
    Cone-rod dystrophy 103 tests
    Cone-rod dystrophy 113 tests
    Cone-rod dystrophy 124 tests
    Cone-rod dystrophy 134 tests
    Cone-rod dystrophy 153 tests
    Cone-rod dystrophy 164 tests
    Cone-rod dystrophy 183 tests
    Cone-rod dystrophy 194 tests
    Cone-rod dystrophy 26 tests
    Cone-rod dystrophy 203 tests
    Cone-rod dystrophy 213 tests
    Cone-rod dystrophy 34 tests
    Cone-rod dystrophy 53 tests
    Cone-rod dystrophy 64 tests
    Cone-rod dystrophy 73 tests
    Cone-rod dystrophy 93 tests
    Cone-rod dystrophy, X-linked 14 tests
    Congenital bile acid synthesis defect 11 test
    Congenital bile acid synthesis defect 41 test
    Congenital central hypoventilation3 tests
    Congenital hypotrichosis with juvenile macular dystrophy3 tests
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
    Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61 test
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
    Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
    Congenital myasthenic syndrome1 test
    Congenital ocular coloboma1 test
    Congenital primary aphakia1 test
    Congenital stationary night blindness5 tests
    Congenital stationary night blindness, X-linked1 test
    Congenital stationary night blindness, autosomal dominant 13 tests
    Congenital stationary night blindness, autosomal dominant 23 tests
    Congenital stationary night blindness, autosomal dominant 33 tests
    Congenital stationary night blindness, type 1A3 tests
    Congenital stationary night blindness, type 1B3 tests
    Congenital stationary night blindness, type 1C4 tests
    Congenital stationary night blindness, type 1D3 tests
    Congenital stationary night blindness, type 1E3 tests
    Congenital stationary night blindness, type 1F3 tests
    Congenital stationary night blindness, type 2A4 tests
    Congenital stationary night blindness, type 2B4 tests
    Contiguous abcd1/dxs1375e deletion syndrome1 test
    Cowchock syndrome1 test
    Craniofacial-deafness-hand syndrome2 tests
    Creatine transporter deficiency1 test
    DE SANCTIS-CACCHIONE SYNDROME1 test
    Danon disease1 test
    Deafness dystonia syndrome3 tests
    Deafness, X-linked 23 tests
    Deafness, X-linked 51 test
    Deafness, autosomal dominant 113 tests
    Deafness, autosomal dominant 131 test
    Deafness, autosomal dominant 3a3 tests
    Deafness, autosomal dominant 3b3 tests
    Deafness, autosomal recessive 123 tests
    Deafness, autosomal recessive 183 tests
    Deafness, autosomal recessive 1A3 tests
    Deafness, autosomal recessive 1b2 tests
    Deafness, autosomal recessive 23 tests
    Deafness, autosomal recessive 234 tests
    Deafness, autosomal recessive 313 tests
    Deafness, autosomal recessive 483 tests
    Deafness, autosomal recessive 531 test
    Deafness, autosomal recessive 701 test
    Deafness, autosomal recessive 891 test
    Deafness, autosomal recessive 941 test
    Deafness, congenital, and adult-onset progressive leukoencephalopathy1 test
    Deafness, digenic, GJB2/GJB33 tests
    Deafness, digenic, GJB2/GJB62 tests
    Deafness, mitochondrial, modifier of1 test
    Deafness, nonsyndromic sensorineural, mitochondrial1 test
    Deafness, sensorineural, autosomal-mitochondrial type1 test
    Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
    Deficiency of acetyl-CoA acetyltransferase1 test
    Deficiency of butyryl-CoA dehydrogenase1 test
    Deficiency of guanidinoacetate methyltransferase1 test
    Deficiency of hydroxymethylglutaryl-CoA lyase1 test
    Developmental and epileptic encephalopathy, 751 test
    Dilated cardiomyopathy 1GG1 test
    Dilated cardiomyopathy 1X1 test
    Distal hereditary motor neuronopathy type 51 test
    Distal hereditary motor neuronopathy type 5B1 test
    Distichiasis-lymphedema syndrome1 test
    Doyne honeycomb retinal dystrophy3 tests
    Dyschromatosis universalis hereditaria 31 test
    Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1 test
    EEM syndrome3 tests
    Ectopia lentis 2, isolated, autosomal recessive1 test
    Ectopia lentis et pupillae1 test
    Ehlers-Danlos syndrome, arthrochalasia type, 11 test
    Ehlers-Danlos syndrome, cardiac valvular type1 test
    Ehlers-Danlos syndrome, classic type1 test
    Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
    Encephalopathy due to defective mitochondrial and peroxisomal fission1 test
    Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
    Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
    Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
    Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
    Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1 test
    Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11 test
    Enhanced S-cone syndrome2 tests
    Enlarged vestibular aqueduct syndrome1 test
    Epilepsy, hearing loss, and mental retardation syndrome1 test
    Epilepsy, progressive myoclonic 32 tests
    Epileptic encephalopathy, early infantile, 12 tests
    Epileptic encephalopathy, early infantile, 242 tests
    Epileptic encephalopathy, early infantile, 511 test
    Epiphyseal dysplasia, multiple, 21 test
    Epiphyseal dysplasia, multiple, with myopia and conductive deafness1 test
    Ethylmalonic encephalopathy1 test
    Exercise intolerance, riboflavin-responsive1 test
    Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
    Exudative vitreoretinopathy 14 tests
    Exudative vitreoretinopathy 44 tests
    Exudative vitreoretinopathy 54 tests
    Exudative vitreoretinopathy 62 tests
    FASTKD2-related infantile mitochondrial encephalomyopathy1 test
    Factor H deficiency2 tests
    Familial exudative vitreoretinopathy, X-linked5 tests
    Familial isolated deficiency of vitamin E2 tests
    Fanconi renotubular syndrome 11 test
    Fanconi renotubular syndrome 51 test
    Fatal infantile mitochondrial cardiomyopathy1 test
    Febrile seizures, familial, 43 tests
    Fibrochondrogenesis 21 test
    Fleck retina, familial benign2 tests
    Floating-Harbor syndrome1 test
    Focal segmental glomerulosclerosis 71 test
    Foveal hypoplasia 21 test
    Foveal hypoplasia and presenile cataract syndrome2 tests
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
    Fructose-biphosphatase deficiency1 test
    Fumarase deficiency1 test
    GRACILE syndrome1 test
    Gamma-aminobutyric acid transaminase deficiency1 test
    Gastrointestinal stromal tumor2 tests
    Gaze palsy, familial horizontal, with progressive scoliosis, 21 test
    Generalized arterial calcification of infancy 21 test
    Gentamicin response1 test
    Gillespie syndrome2 tests
    Glaucoma1 test
    Glaucoma 3, primary congenital, A1 test
    Glaucoma 3, primary infantile, b1 test
    Glaucoma, normal tension, susceptibility to4 tests
    Glucose-6-phosphate transport defect1 test
    Glutaric aciduria, type 11 test
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
    Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
    Glycogen storage disease, type II1 test
    Griscelli syndrome type 11 test
    Griscelli syndrome type 21 test
    Griscelli syndrome type 31 test
    Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
    Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1 test
    HSD10 disease1 test
    Harel-Yoon syndrome1 test
    Hearing Loss/Deafness1 test
    Hemolytic anemia due to hexokinase deficiency2 tests
    Hemorrhage, intracerebral, susceptibility to1 test
    Hereditary disease1 test
    Hereditary hearing loss and deafness2 tests
    Hereditary leiomyomatosis and renal cell cancer1 test
    Hereditary motor and sensory neuropathy with optic atrophy1 test
    Hereditary spastic paraplegia 131 test
    Hereditary spastic paraplegia 392 tests
    Hereditary spastic paraplegia 5A2 tests
    Hereditary spastic paraplegia 71 test
    Hermansky-Pudlak syndrome2 tests
    Hermansky-Pudlak syndrome 11 test
    Hermansky-Pudlak syndrome 22 tests
    Hermansky-Pudlak syndrome 31 test
    Hermansky-Pudlak syndrome 41 test
    Hermansky-Pudlak syndrome 51 test
    Hermansky-Pudlak syndrome 61 test
    Hermansky-Pudlak syndrome 71 test
    Hermansky-Pudlak syndrome 81 test
    Hermansky-Pudlak syndrome 91 test
    Hidrotic ectodermal dysplasia syndrome3 tests
    Hirschsprung disease2 tests
    Hirschsprung disease 13 tests
    Hirschsprung disease 23 tests
    Hirschsprung disease 43 tests
    Holocarboxylase synthetase deficiency1 test
    Holoprosencephaly 21 test
    Holoprosencephaly 31 test
    Hurthle cell carcinoma of thyroid1 test
    Hydrolethalus syndrome 22 tests
    Hydrops, lactic acidosis, and sideroblastic anemia1 test
    Hyperimmunoglobulin D with periodic fever2 tests
    Hyperinsulinemic hypoglycemia, familial, 41 test
    Hyperlysinemia due to defect in lysine transport into mitochondria1 test
    Hypermetabolism due to defect in mitochondria1 test
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
    Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial1 test
    Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation1 test
    Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis1 test
    Hypogonadotropic hypogonadism 5 with or without anosmia1 test
    Hypomyelination, global cerebral1 test
    Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
    Hystrix-like ichthyosis with deafness4 tests
    Ichthyosis, spastic quadriplegia, and mental retardation3 tests
    Immunodeficiency 133 tests
    Immunodeficiency 441 test
    Incontinentia pigmenti syndrome1 test
    Infantile cerebellar-retinal degeneration2 tests
    Infantile cortical hyperostosis1 test
    Infantile liver failure syndrome 11 test
    Infantile nephronophthisis2 tests
    Infantile nystagmus, X-linked1 test
    Infantile onset spinocerebellar ataxia1 test
    Influenza, severe, susceptibility to1 test
    Intervertebral disc disorder1 test
    Intrauterine growth retardation with increased mitomycin c sensitivity1 test
    Irido-corneo-trabecular dysgenesis2 tests
    Jervell and Lange-Nielsen syndrome 11 test
    Joubert syndrome2 tests
    Joubert syndrome 12 tests
    Joubert syndrome 104 tests
    Joubert syndrome 121 test
    Joubert syndrome 133 tests
    Joubert syndrome 143 tests
    Joubert syndrome 153 tests
    Joubert syndrome 163 tests
    Joubert syndrome 173 tests
    Joubert syndrome 183 tests
    Joubert syndrome 23 tests
    Joubert syndrome 203 tests
    Joubert syndrome 213 tests
    Joubert syndrome 222 tests
    Joubert syndrome 243 tests
    Joubert syndrome 272 tests
    Joubert syndrome 281 test
    Joubert syndrome 33 tests
    Joubert syndrome 45 tests
    Joubert syndrome 56 tests
    Joubert syndrome 61 test
    Joubert syndrome 73 tests
    Joubert syndrome 82 tests
    Joubert syndrome 93 tests
    Juvenile retinitis pigmentosa, AIPL1-related1 test
    Juvenile retinoschisis3 tests
    Keratitis, hereditary2 tests
    Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
    Klippel-Feil syndrome 1, autosomal dominant4 tests
    Klippel-Feil syndrome 3, autosomal dominant1 test
    Knobloch syndrome 11 test
    Knuckle pads, deafness AND leukonychia syndrome3 tests
    Langereis blood group1 test
    Late-onset retinal degeneration2 tests
    Leber congenital amaurosis4 tests
    Leber congenital amaurosis 14 tests
    Leber congenital amaurosis 106 tests
    Leber congenital amaurosis 113 tests
    Leber congenital amaurosis 123 tests
    Leber congenital amaurosis 133 tests
    Leber congenital amaurosis 143 tests
    Leber congenital amaurosis 153 tests
    Leber congenital amaurosis 165 tests
    Leber congenital amaurosis 174 tests
    Leber congenital amaurosis 23 tests
    Leber congenital amaurosis 33 tests
    Leber congenital amaurosis 44 tests
    Leber congenital amaurosis 54 tests
    Leber congenital amaurosis 64 tests
    Leber congenital amaurosis 75 tests
    Leber congenital amaurosis 83 tests
    Leber congenital amaurosis 93 tests
    Leber optic atrophy2 tests
    Leber optic atrophy and dystonia1 test
    Legius syndrome2 tests
    Leigh syndrome2 tests
    Leigh syndrome due to mitochondrial complex IV deficiency1 test
    Lenz microphthalmia syndrome1 test
    Lethal congenital contracture syndrome 51 test
    Lethal infantile mitochondrial myopathy1 test
    Leukodystrophy, hypomyelinating, 41 test
    Leukodystrophy, hypomyelinating, 91 test
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
    Leukoencephalopathy, progressive, infantile-onset, with or without deafness1 test
    Leukoencephalopathy, progressive, with ovarian failure1 test
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
    Linear skin defects with multiple congenital anomalies 11 test
    Linear skin defects with multiple congenital anomalies 22 tests
    Linear skin defects with multiple congenital anomalies 31 test
    Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency1 test
    Lipoyltransferase 1 deficiency1 test
    Long chain acyl-CoA dehydrogenase deficiency1 test
    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
    MORM syndrome4 tests
    Macular degeneration, X-linked atrophic4 tests
    Macular dystrophy with central cone involvement3 tests
    Macular dystrophy, patterned, 22 tests
    Macular dystrophy, vitelliform, 43 tests
    Macular dystrophy, vitelliform, 53 tests
    Macular dystrophy, vitelliform, adult-onset5 tests
    Malattia leventinese1 test
    Malignant tumor of esophagus1 test
    Maple syrup urine disease, type 31 test
    Marshall syndrome1 test
    Mastocytosis1 test
    Maternally-inherited mitochondrial dystonia1 test
    Maternally-inherited mitochondrial myopathy1 test
    Matthew-Wood syndrome1 test
    Maturity-onset diabetes of the young type 41 test
    Maturity-onset diabetes of the young type 62 tests
    McKusick-Kaufman syndrome4 tests
    Meckel syndrome type 14 tests
    Meckel syndrome type 63 tests
    Meckel syndrome type 71 test
    Meckel syndrome type 81 test
    Meckel syndrome, type 101 test
    Meckel syndrome, type 111 test
    Meckel syndrome, type 21 test
    Meckel syndrome, type 33 tests
    Meckel syndrome, type 46 tests
    Meckel syndrome, type 51 test
    Meckel syndrome, type 92 tests
    Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
    Megaconial type congenital muscular dystrophy1 test
    Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
    Meningioma, familial1 test
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
    Mental retardation with panhypopituitarism, X-linked1 test
    Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1 test
    Mevalonic aciduria2 tests
    Microcephaly and chorioretinopathy, autosomal recessive, 12 tests
    Microcephaly and chorioretinopathy, autosomal recessive, 22 tests
    Microcephaly and chorioretinopathy, autosomal recessive, 32 tests
    Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation3 tests
    Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
    Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
    Microcornea, myopic chorioretinal atrophy, and telecanthus1 test
    Microphthalmia with brain and digit anomalies1 test
    Microphthalmia, isolated 21 test
    Microphthalmia, isolated 31 test
    Microphthalmia, isolated 44 tests
    Microphthalmia, isolated 53 tests
    Microphthalmia, isolated 61 test
    Microphthalmia, isolated 71 test
    Microphthalmia, isolated 81 test
    Microphthalmia, isolated, with coloboma 31 test
    Microphthalmia, isolated, with coloboma 51 test
    Microphthalmia, isolated, with coloboma 64 tests
    Microphthalmia, isolated, with coloboma 71 test
    Microphthalmia, isolated, with coloboma 91 test
    Microphthalmia, syndromic 111 test
    Microphthalmia, syndromic 121 test
    Microphthalmia, syndromic 131 test
    Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
    Mirror movements 11 test
    Mitochondrial DNA Deletion Syndromes1 test
    Mitochondrial DNA depletion syndrome1 test
    Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
    Mitochondrial DNA depletion syndrome 111 test
    Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD1 test
    Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR1 test
    Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant1 test
    Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
    Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
    Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)2 tests
    Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)1 test
    Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
    Mitochondrial DNA depletion syndrome 16 (hepatic type)1 test
    Mitochondrial DNA depletion syndrome 171 test
    Mitochondrial DNA depletion syndrome 181 test
    Mitochondrial DNA depletion syndrome 191 test
    Mitochondrial DNA depletion syndrome 21 test
    Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
    Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
    Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
    Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
    Mitochondrial DNA depletion syndrome, encephalomyopathic form1 test
    Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy1 test
    Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
    Mitochondrial DNA depletion syndrome, hepatocerebrorenal form1 test
    Mitochondrial DNA maintenance syndrome1 test
    Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
    Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
    Mitochondrial complex 1 deficiency, mitochondrial type 11 test
    Mitochondrial complex 1 deficiency, nuclear type 101 test
    Mitochondrial complex 1 deficiency, nuclear type 111 test
    Mitochondrial complex 1 deficiency, nuclear type 121 test
    Mitochondrial complex 1 deficiency, nuclear type 131 test
    Mitochondrial complex 1 deficiency, nuclear type 141 test
    Mitochondrial complex 1 deficiency, nuclear type 151 test
    Mitochondrial complex 1 deficiency, nuclear type 161 test
    Mitochondrial complex 1 deficiency, nuclear type 171 test
    Mitochondrial complex 1 deficiency, nuclear type 181 test
    Mitochondrial complex 1 deficiency, nuclear type 191 test
    Mitochondrial complex 1 deficiency, nuclear type 21 test
    Mitochondrial complex 1 deficiency, nuclear type 211 test
    Mitochondrial complex 1 deficiency, nuclear type 221 test
    Mitochondrial complex 1 deficiency, nuclear type 231 test
    Mitochondrial complex 1 deficiency, nuclear type 241 test
    Mitochondrial complex 1 deficiency, nuclear type 251 test
    Mitochondrial complex 1 deficiency, nuclear type 261 test
    Mitochondrial complex 1 deficiency, nuclear type 271 test
    Mitochondrial complex 1 deficiency, nuclear type 281 test
    Mitochondrial complex 1 deficiency, nuclear type 291 test
    Mitochondrial complex 1 deficiency, nuclear type 31 test
    Mitochondrial complex 1 deficiency, nuclear type 301 test
    Mitochondrial complex 1 deficiency, nuclear type 311 test
    Mitochondrial complex 1 deficiency, nuclear type 321 test
    Mitochondrial complex 1 deficiency, nuclear type 331 test
    Mitochondrial complex 1 deficiency, nuclear type 341 test
    Mitochondrial complex 1 deficiency, nuclear type 351 test
    Mitochondrial complex 1 deficiency, nuclear type 361 test
    Mitochondrial complex 1 deficiency, nuclear type 371 test
    Mitochondrial complex 1 deficiency, nuclear type 41 test
    Mitochondrial complex 1 deficiency, nuclear type 51 test
    Mitochondrial complex 1 deficiency, nuclear type 61 test
    Mitochondrial complex 1 deficiency, nuclear type 71 test
    Mitochondrial complex 1 deficiency, nuclear type 81 test
    Mitochondrial complex 1 deficiency, nuclear type 91 test
    Mitochondrial complex 2 deficiency, nuclear type 21 test
    Mitochondrial complex 2 deficiency, nuclear type 31 test
    Mitochondrial complex 2 deficiency, nuclear type 41 test
    Mitochondrial complex 3 deficiency, nuclear type 101 test
    Mitochondrial complex 4 deficiency, nuclear type 101 test
    Mitochondrial complex 4 deficiency, nuclear type 111 test
    Mitochondrial complex 4 deficiency, nuclear type 121 test
    Mitochondrial complex 4 deficiency, nuclear type 141 test
    Mitochondrial complex 4 deficiency, nuclear type 151 test
    Mitochondrial complex 4 deficiency, nuclear type 161 test
    Mitochondrial complex 4 deficiency, nuclear type 171 test
    Mitochondrial complex 4 deficiency, nuclear type 181 test
    Mitochondrial complex 4 deficiency, nuclear type 191 test
    Mitochondrial complex 4 deficiency, nuclear type 201 test
    Mitochondrial complex 4 deficiency, nuclear type 211 test
    Mitochondrial complex 4 deficiency, nuclear type 31 test
    Mitochondrial complex 4 deficiency, nuclear type 41 test
    Mitochondrial complex 4 deficiency, nuclear type 71 test
    Mitochondrial complex 4 deficiency, nuclear type 81 test
    Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 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 11 test
    Mitochondrial complex II deficiency, nuclear type 11 test
    Mitochondrial complex III deficiency1 test
    Mitochondrial complex III deficiency, nuclear type1 test
    Mitochondrial complex III deficiency, nuclear type 11 test
    Mitochondrial complex III deficiency, nuclear type 21 test
    Mitochondrial complex III deficiency, nuclear type 31 test
    Mitochondrial complex III deficiency, nuclear type 41 test
    Mitochondrial complex III deficiency, nuclear type 51 test
    Mitochondrial complex III deficiency, nuclear type 61 test
    Mitochondrial complex III deficiency, nuclear type 71 test
    Mitochondrial complex III deficiency, nuclear type 81 test
    Mitochondrial complex III deficiency, nuclear type 91 test
    Mitochondrial complex IV deficiency1 test
    Mitochondrial complex IV deficiency, nuclear-type1 test
    Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 11 test
    Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
    Mitochondrial disease3 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 encephalomyopathy1 test
    Mitochondrial encephalopathy1 test
    Mitochondrial import-stimulating factor1 test
    Mitochondrial intermembrane space protein tim12, yeast, homolog of1 test
    Mitochondrial membrane transport disorder1 test
    Mitochondrial myopathy1 test
    Mitochondrial myopathy and sideroblastic anemia1 test
    Mitochondrial myopathy with a defect in mitochondrial-protein transport1 test
    Mitochondrial myopathy with diabetes1 test
    Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
    Mitochondrial myopathy, infantile, transient1 test
    Mitochondrial myopathy, isolated1 test
    Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1 test
    Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
    Mitochondrial neurogastrointestinal encephalomyopathy1 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 phosphate carrier deficiency1 test
    Mitochondrial protein import disorder1 test
    Mitochondrial proton-transporting ATP synthase complex deficiency1 test
    Mitochondrial pyruvate carrier deficiency1 test
    Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
    Mitochondrial substrate carrier disorder1 test
    Mitochondrial trifunctional protein deficiency1 test
    Mowat-Wilson syndrome1 test
    Mucopolysaccharidosis, MPS-III-C2 tests
    Multiple acyl-CoA dehydrogenase deficiency1 test
    Multiple endocrine neoplasia, type 2a1 test
    Multiple endocrine neoplasia, type 2b1 test
    Multiple epiphyseal dysplasia 61 test
    Multiple mitochondrial DNA deletion syndrome1 test
    Multiple mitochondrial dysfunctions syndrome1 test
    Multiple mitochondrial dysfunctions syndrome 11 test
    Multiple mitochondrial dysfunctions syndrome 21 test
    Multiple mitochondrial dysfunctions syndrome 31 test
    Multiple mitochondrial dysfunctions syndrome 41 test
    Multiple mitochondrial dysfunctions syndrome 51 test
    Multiple mitochondrial dysfunctions syndrome 61 test
    Multiple system atrophy1 test
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
    Mutilating keratoderma3 tests
    Myasthenic syndrome, congenital, 23, presynaptic1 test
    Myopathy with extrapyramidal signs1 test
    Myopathy with giant abnormal mitochondria1 test
    Myopathy with lactic acidosis, hereditary1 test
    Myopathy, centronuclear, 11 test
    Myopathy, isolated mitochondrial, autosomal dominant1 test
    Myopathy, lactic acidosis, and sideroblastic anemia 11 test
    Myopathy, lactic acidosis, and sideroblastic anemia 21 test
    Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
    Myopia 61 test
    N-terminal acetyltransferase deficiency1 test
    Nanophthalmos 11 test
    Nanophthalmos 23 tests
    Nanophthalmos 41 test
    Navajo neurohepatopathy1 test
    Neonatal intrahepatic cholestasis caused by citrin deficiency1 test
    Nephronophthisis 15 tests
    Nephronophthisis 111 test
    Nephronophthisis 123 tests
    Nephronophthisis 142 tests
    Nephronophthisis 152 tests
    Nephronophthisis 31 test
    Nephronophthisis 43 tests
    Nephronophthisis-like nephropathy 11 test
    Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
    Nephrotic syndrome, type 91 test
    Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency1 test
    Neurodegeneration with ataxia and late-onset optic atrophy1 test
    Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
    Neurofibromatosis, familial spinal2 tests
    Neurofibromatosis, type 12 tests
    Neurofibromatosis, type 22 tests
    Neurofibromatosis-Noonan syndrome2 tests
    Neuronal ceroid lipofuscinosis1 test
    Neuronal ceroid lipofuscinosis 13 tests
    Neuronal ceroid lipofuscinosis 104 tests
    Neuronal ceroid lipofuscinosis 34 tests
    Neuronal ceroid lipofuscinosis 4B3 tests
    Neuronal ceroid lipofuscinosis 54 tests
    Neuronal ceroid lipofuscinosis 64 tests
    Neuronal ceroid lipofuscinosis 71 test
    Neuronal ceroid lipofuscinosis 84 tests
    Neuropathy, hereditary motor and sensory, Russe type2 tests
    Neuropathy, hereditary motor and sensory, type 6B3 tests
    Newfoundland rod-cone dystrophy2 tests
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
    North Carolina macular dystrophy1 test
    Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
    Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
    Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 31 test
    Nystagmus 6, congenital, X-linked1 test
    Occult macular dystrophy3 tests
    Ocular albinism, type I2 tests
    Ocular albinism, type II4 tests
    Oculoauricular syndrome3 tests
    Oculocutaneous albinism type 11 test
    Oculocutaneous albinism type 1B1 test
    Oculocutaneous albinism type 31 test
    Oculocutaneous albinism type 41 test
    Oculofaciocardiodental syndrome1 test
    Oguchi disease3 tests
    Oguchi disease 23 tests
    Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
    Optic atrophy 10 with or without ataxia, mental retardation, and seizures3 tests
    Optic atrophy 111 test
    Optic atrophy 121 test
    Optic atrophy 34 tests
    Optic atrophy 51 test
    Optic atrophy 73 tests
    Optic atrophy 92 tests
    Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
    Optic nerve hypoplasia, bilateral2 tests
    Ornithine aminotransferase deficiency2 tests
    Ornithine carbamoyltransferase deficiency1 test
    Orofacial cleft 111 test
    Orofaciodigital syndrome I4 tests
    Orofaciodigital syndrome type 63 tests
    Osteogenesis imperfecta2 tests
    Osteogenesis imperfecta type 81 test
    Osteogenesis imperfecta type I1 test
    Osteogenesis imperfecta type III1 test
    Osteogenesis imperfecta with normal sclerae, dominant form1 test
    Osteogenesis imperfecta, recessive perinatal lethal1 test
    Osteoporosis with pseudoglioma2 tests
    Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
    Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
    Ovarian dysgenesis 71 test
    Palmoplantar keratoderma-deafness syndrome3 tests
    Pancreatic agenesis 11 test
    Panhypopituitarism, X-linked1 test
    Paragangliomas 11 test
    Paragangliomas 21 test
    Paragangliomas 31 test
    Paragangliomas 41 test
    Paragangliomas 51 test
    Parkinson disease1 test
    Parkinson disease 131 test
    Partial albinism3 tests
    Patterned dystrophy of the retinal pigment epithelium5 tests
    Pendred syndrome1 test
    Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
    Permanent neonatal diabetes mellitus1 test
    Peroxisome biogenesis disorder 10A2 tests
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    Peroxisome biogenesis disorder 14B2 tests
    Peroxisome biogenesis disorder 2A (Zellweger)2 tests
    Peroxisome biogenesis disorder 3A2 tests
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    Peroxisome biogenesis disorders, Zellweger syndrome spectrum3 tests
    Perrault syndrome 21 test
    Perrault syndrome 31 test
    Perrault syndrome 41 test
    Perrault syndrome 51 test
    Perrault syndrome 61 test
    Persistent hyperplastic primary vitreous, autosomal recessive2 tests
    Peters plus syndrome1 test
    Pheochromocytoma1 test
    Phosphate transport defect1 test
    Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
    Phosphoglycerate kinase 1 deficiency2 tests
    Phytanic acid storage disease2 tests
    Pierson syndrome1 test
    Pigmentary retinal dystrophy7 tests
    Pigmented paravenous chorioretinal atrophy3 tests
    Pili torti-deafness syndrome1 test
    Pituitary hormone deficiency, combined 62 tests
    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract3 tests
    Pontocerebellar hypoplasia type 61 test
    Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal1 test
    Poretti-Boltshauser syndrome2 tests
    Porokeratosis 3, disseminated superficial actinic type2 tests
    Portal hypertension, noncirrhotic1 test
    Posterior column ataxia-retinitis pigmentosa syndrome2 tests
    Postmenopausal osteoporosis1 test
    Primary dilated cardiomyopathy1 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
    Progressive sclerosing poliodystrophy1 test
    Propionic acidemia1 test
    Prostate cancer, hereditary, 21 test
    Protan defect1 test
    Protoporphyria, erythropoietic, X-linked1 test
    Proximal myopathy with focal depletion of mitochondria1 test
    Pseudo-TORCH syndrome 31 test
    Pseudohyperkalemia, familial, 2, due to red cell leak1 test
    Pseudoxanthoma elasticum1 test
    Pseudoxanthoma elasticum, forme fruste1 test
    Pure mitochondrial myopathy1 test
    Pyruvate carboxylase deficiency1 test
    Pyruvate dehydrogenase E1-alpha deficiency1 test
    Pyruvate dehydrogenase E1-beta deficiency1 test
    Pyruvate dehydrogenase E2 deficiency1 test
    Pyruvate dehydrogenase E3-binding protein deficiency1 test
    Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
    Pyruvate dehydrogenase phosphatase deficiency1 test
    RRM2B-related mitochondrial disease1 test
    Recessive mitochondrial ataxia syndrome1 test
    Red-green dyschromatopsia1 test
    Renal carnitine transport defect1 test
    Renal coloboma syndrome3 tests
    Renal dysplasia and retinal aplasia6 tests
    Renal hypodysplasia/aplasia 12 tests
    Renal-hepatic-pancreatic dysplasia1 test
    Retinal cone dystrophy 3A4 tests
    Retinal cone dystrophy 44 tests
    Retinal dystrophy2 tests
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    Retinal dystrophy, iris coloboma, and comedogenic acne syndrome2 tests
    Retinal dystrophy, juvenile cataracts, and short stature syndrome2 tests
    Retinal macular dystrophy type 24 tests
    Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations2 tests
    Retinitis pigmentosa18 tests
    Retinitis pigmentosa 12 tests
    Retinitis pigmentosa 103 tests
    Retinitis pigmentosa 112 tests
    Retinitis pigmentosa 123 tests
    Retinitis pigmentosa 132 tests
    Retinitis pigmentosa 143 tests
    Retinitis pigmentosa 154 tests
    Retinitis pigmentosa 172 tests
    Retinitis pigmentosa 182 tests
    Retinitis pigmentosa 195 tests
    Retinitis pigmentosa 23 tests
    Retinitis pigmentosa 203 tests
    Retinitis pigmentosa 234 tests
    Retinitis pigmentosa 252 tests
    Retinitis pigmentosa 263 tests
    Retinitis pigmentosa 272 tests
    Retinitis pigmentosa 283 tests
    Retinitis pigmentosa 302 tests
    Retinitis pigmentosa 312 tests
    Retinitis pigmentosa 333 tests
    Retinitis pigmentosa 353 tests
    Retinitis pigmentosa 362 tests
    Retinitis pigmentosa 372 tests
    Retinitis pigmentosa 382 tests
    Retinitis pigmentosa 393 tests
    Retinitis pigmentosa 43 tests
    Retinitis pigmentosa 403 tests
    Retinitis pigmentosa 414 tests
    Retinitis pigmentosa 422 tests
    Retinitis pigmentosa 432 tests
    Retinitis pigmentosa 442 tests
    Retinitis pigmentosa 452 tests
    Retinitis pigmentosa 463 tests
    Retinitis pigmentosa 473 tests
    Retinitis pigmentosa 482 tests
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    Retinitis pigmentosa 503 tests
    Retinitis pigmentosa 513 tests
    Retinitis pigmentosa 543 tests
    Retinitis pigmentosa 552 tests
    Retinitis pigmentosa 563 tests
    Retinitis pigmentosa 572 tests
    Retinitis pigmentosa 582 tests
    Retinitis pigmentosa 593 tests
    Retinitis pigmentosa 602 tests
    Retinitis pigmentosa 614 tests
    Retinitis pigmentosa 623 tests
    Retinitis pigmentosa 662 tests
    Retinitis pigmentosa 672 tests
    Retinitis pigmentosa 682 tests
    Retinitis pigmentosa 692 tests
    Retinitis pigmentosa 75 tests
    Retinitis pigmentosa 702 tests
    Retinitis pigmentosa 714 tests
    Retinitis pigmentosa 722 tests
    Retinitis pigmentosa 732 tests
    Retinitis pigmentosa 82 with or without situs inversus1 test
    Retinitis pigmentosa 92 tests
    Retinitis pigmentosa 901 test
    Retinitis pigmentosa and erythrocytic microcytosis1 test
    Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness4 tests
    Retinitis pigmentosa-deafness syndrome4 tests
    Ring dermoid of cornea1 test
    Rubinstein-Taybi syndrome2 tests
    Rubinstein-Taybi syndrome 22 tests
    SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 test
    Saldino-Mainzer syndrome3 tests
    Sarcotubular myopathy3 tests
    Schizencephaly1 test
    Schwannomatosis 11 test
    Scoliosis, idiopathic 31 test
    Seckel syndrome 81 test
    Sengers syndrome2 tests
    Senior-Loken syndrome 32 tests
    Senior-Loken syndrome 41 test
    Senior-Loken syndrome 54 tests
    Senior-Loken syndrome 65 tests
    Senior-Loken syndrome 73 tests
    Senior-Loken syndrome 81 test
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
    Septo-optic dysplasia sequence2 tests
    Short-rib thoracic dysplasia 1 with or without polydactyly2 tests
    Short-rib thoracic dysplasia 10 with or without polydactyly3 tests
    Sideroblastic anemia 3, pyridoxine-refractory1 test
    Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay3 tests
    Simpson-Golabi-Behmel syndrome, type 24 tests
    Skin/hair/eye pigmentation, variation in, 31 test
    Skin/hair/eye pigmentation, variation in, 41 test
    Skin/hair/eye pigmentation, variation in, 51 test
    Snowflake vitreoretinal degeneration5 tests
    Solitary median maxillary central incisor syndrome1 test
    Sorsby fundus dystrophy3 tests
    Spastic ataxia 5, autosomal recessive1 test
    Spastic paraplegia 31, autosomal dominant1 test
    Spastic paraplegia 4, autosomal dominant1 test
    Spastic paraplegia 74, autosomal recessive1 test
    Spastic paraplegia 77, autosomal recessive1 test
    Spastic tetraplegia and axial hypotonia, progressive1 test
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    Spinal muscular atrophy, infantile, James type1 test
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    Spinocerebellar ataxia type 281 test
    Spinocerebellar ataxia type 343 tests
    Spinocerebellar ataxia, autosomal recessive 101 test
    Spinocerebellar ataxia, autosomal recessive 21 test
    Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
    Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
    Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy1 test
    Stargardt Disease 33 tests
    Stargardt disease1 test
    Stargardt disease 15 tests
    Stargardt disease 44 tests
    Stickler syndrome1 test
    Stickler syndrome type 11 test
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    Stickler syndrome, type 41 test
    Stickler syndrome, type 51 test
    Stickler syndrome, type I, nonsyndromic ocular1 test
    Streptomycin response1 test
    Striatal necrosis, bilateral, and progressive polyneuropathy1 test
    Sudden cardiac failure, alcohol-induced1 test
    Sudden cardiac failure, infantile1 test
    Sveinsson chorioretinal atrophy2 tests
    Syndromic microphthalmia type 55 tests
    Temtamy syndrome1 test
    Tetralogy of Fallot2 tests
    Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
    Thrombocytopenia 41 test
    Tietz syndrome2 tests
    Tobramycin response1 test
    Tuberous sclerosis 12 tests
    Tuberous sclerosis 22 tests
    Type 2 diabetes mellitus1 test
    Tyrosinase-positive oculocutaneous albinism1 test
    UV-sensitive syndrome 21 test
    Unspecified inborn mitochondrial disorder1 test
    Usher Syndrome, Type III5 tests
    Usher syndrome1 test
    Usher syndrome type 14 tests
    Usher syndrome type 1B1 test
    Usher syndrome type 1D5 tests
    Usher syndrome type 1E1 test
    Usher syndrome type 1F5 tests
    Usher syndrome type 22 tests
    Usher syndrome type ID/F, CDH23/PCDH15, digenic2 tests
    Usher syndrome, type 1C4 tests
    Usher syndrome, type 1G4 tests
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    Usher syndrome, type 1J3 tests
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    Usher syndrome, type 2D1 test
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    Very long chain acyl-CoA dehydrogenase deficiency1 test
    Vitelliform macular dystrophy4 tests
    Vitreoretinochoroidopathy3 tests
    Vitreoretinopathy, neovascular inflammatory1 test
    Von Hippel-Lindau syndrome1 test
    Waardenburg syndrome2 tests
    Waardenburg syndrome type 13 tests
    Waardenburg syndrome type 21 test
    Waardenburg syndrome type 2A2 tests
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    Waardenburg syndrome type 33 tests
    Waardenburg syndrome type 4A4 tests
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    Wagner syndrome3 tests
    Warburg micro syndrome 11 test
    Warburg micro syndrome 21 test
    Warburg micro syndrome 31 test
    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
    Wilson disease1 test
    Wolfram syndrome2 tests
    Wolfram syndrome 11 test
    Wolfram syndrome 23 tests
    Wolfram-like syndrome, autosomal dominant3 tests
    Worth disease1 test
    X-linked cone-rod dystrophy 34 tests
    X-linked recessive mitochondrial myopathy1 test
    X-linked sideroblastic anemia with ataxia1 test
    mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
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