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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
    Severe early-childhood-onset retinal dystrophy1Sep 11, 2018

    Testing in GTR

    Disease nameNumber of tests
    11p partial monosomy syndrome1 test
    2-hydroxyglutaric aciduria2 tests
    3-Methylglutaconic aciduria type 21 test
    3-Methylglutaconic aciduria type 32 tests
    3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
    3-methylglutaconic aciduria type 12 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
    ABri amyloidosis3 tests
    ADan amyloidosis3 tests
    ALDH18A1-related de Barsy syndrome1 test
    ALG1-congenital disorder of glycosylation1 test
    ALG2-congenital disorder of glycosylation1 test
    Abetalipoproteinaemia3 tests
    Abortive cerebellar ataxia1 test
    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
    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
    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 Charcot-Marie-Tooth disease type 2W1 test
    Autosomal dominant centronuclear myopathy2 tests
    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 Parkinson disease 141 test
    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 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
    BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION1 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
    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
    CHARGE association2 tests
    CLN14 Disease3 tests
    COACH syndrome1 test
    COACH syndrome 13 tests
    CODAS syndrome2 tests
    COPD, severe early onset1 test
    COVID-194 tests
    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 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 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, 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
    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
    Cobalamin C disease3 tests
    Cockayne syndrome2 tests
    Cockayne syndrome type 12 tests
    Cockayne syndrome type 22 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
    Cornea plana 21 test
    Corneal dystrophy, lattice type 3A1 test
    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
    DE SANCTIS-CACCHIONE SYNDROME2 tests
    DPAGT1-congenital disorder of glycosylation1 test
    Danon disease2 tests
    Deafness dystonia syndrome4 tests
    Deafness, X-linked 52 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-encephaloneuropathy-obesity-valvulopathy syndrome2 tests
    Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
    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
    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
    Duane retraction syndrome 21 test
    Dyschromatosis universalis hereditaria 32 tests
    Dystonia 91 test
    Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
    EEM syndrome4 tests
    Ectopia lentis 1, isolated, autosomal dominant1 test
    Ectopia lentis 2, isolated, autosomal recessive2 tests
    Ectopia lentis et pupillae2 tests
    Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
    Ehlers-Danlos syndrome, arthrochalasia type1 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 and deafness type1 test
    Ehlers-Danlos syndrome, kyphoscoliotic type 11 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
    Ehlers-danlos syndrome, arthrochalasia 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 GLUT1 deficiency1 test
    Encephalopathy due to defective mitochondrial and peroxisomal fission 22 tests
    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
    FASTKD2-related infantile mitochondrial encephalomyopathy1 test
    FG syndrome 41 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 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
    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
    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
    GNPTG-mucolipidosis1 test
    GRACILE syndrome2 tests
    GRN-related frontotemporal lobar degeneration with Tdp43 inclusions3 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
    Gorlin syndrome1 test
    Griscelli syndrome type 12 tests
    Griscelli syndrome type 22 tests
    Griscelli syndrome type 32 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
    HSD10 mitochondrial disease2 tests
    Harel-Yoon syndrome2 tests
    Hearing Loss/Deafness1 test
    Hearing loss, autosomal dominant 371 test
    Hearing loss, autosomal recessive 942 tests
    Hearing loss, sensorineural, autosomal-mitochondrial type1 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
    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
    Hyperkalemic periodic paralysis1 test
    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
    MASS syndrome1 test
    MORM syndrome5 tests
    MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA1 test
    MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB1 test
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
    Macular corneal dystrophy1 test
    Macular degeneration, X-linked atrophic5 tests
    Macular degeneration, age-related, 31 test
    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
    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 DNA Deletion Syndromes1 test
    Mitochondrial DNA deletion syndrome with progressive myopathy2 tests
    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 8B (MNGIE type)1 test
    Mitochondrial DNA depletion syndrome 8a2 tests
    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 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 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
    Monkeypox1 test
    Mosaic variegated aneuploidy syndrome 11 test
    Mowat-Wilson syndrome2 tests
    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 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, 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 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 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, 81 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
    NPHP3-related Meckel-like syndrome1 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
    Neoplasm of ovary1 test
    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
    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
    PCWH syndrome3 tests
    PHARC syndrome4 tests
    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
    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
    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
    RCBTB1-related retinopathy1 test
    RRM2B-related mitochondrial disease1 test
    Rapadilino syndrome1 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
    Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
    SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1 test
    SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN2 tests
    SRD5A3-congenital disorder of glycosylation1 test
    SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria1 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 41 test
    Senior-Loken syndrome 55 tests
    Senior-Loken syndrome 66 tests
    Senior-Loken syndrome 74 tests
    Senior-Loken syndrome 81 test
    Senior-loken syndrome 33 tests
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
    Septo-optic dysplasia sequence3 tests
    Severe X-linked mitochondrial encephalomyopathy2 tests
    Severe early-childhood-onset retinal dystrophy6 tests
    Severe intellectual disability-progressive spastic diplegia syndrome1 test
    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, variation in, 111 test
    Skin/hair/eye pigmentation, variation in, 41 test
    Skin/hair/eye pigmentation, variation in, 52 tests
    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
    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
    Sudden cardiac failure, alcohol-induced2 tests
    Sudden cardiac failure, infantile2 tests
    Sulfite oxidase deficiency1 test
    Syndactyly type 31 test
    Syndromic X-linked intellectual disability Najm type2 tests
    Syndromic microphthalmia type 56 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
    UV-sensitive syndrome 11 test
    UV-sensitive syndrome 22 tests
    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
    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