GTR Home > Laboratories > GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

GTR Lab ID: 500045, Last updated:2017-04-04
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Personnel

Conditions and tests

  • 22q13.3 deletion syndrome2 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
  • 3-Methylglutaconic aciduria type 12 tests
  • 3-Methylglutaconic aciduria type 23 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 46,XX sex reversal, type 12 tests
  • 46,XY sex reversal, type 12 tests
  • 4p partial monosomy syndrome1 test
  • Aarskog syndrome2 tests
  • Abetalipoproteinaemia2 tests
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB3 tests
  • Achondroplasia2 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Acquired hemoglobin H disease1 test
  • Acrocallosal syndrome1 test
  • Acrocephalosyndactyly type I2 tests
  • Acroerythrokeratoderma1 test
  • Acromesomelic dysplasia, Demirhan type1 test
  • Acromicric dysplasia1 test
  • Acute intermittent porphyria1 test
  • Acute myeloid leukemia4 tests
  • Adams-Oliver syndrome 12 tests
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy4 tests
  • Adult hypophosphatasia2 tests
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult polyglucosan body disease1 test
  • Aicardi Goutieres syndrome 13 tests
  • Aicardi Goutieres syndrome 23 tests
  • Aicardi Goutieres syndrome 33 tests
  • Aicardi Goutieres syndrome 43 tests
  • Aicardi Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Alagille syndrome 13 tests
  • Alagille syndrome 21 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • Albinism, oculocutaneous, type VII1 test
  • Alexander Disease2 tests
  • ALG1-CDG1 test
  • ALG12-congenital disorder of glycosylation2 tests
  • ALG2-CDG2 tests
  • ALG3-CDG2 tests
  • ALG8-CDG1 test
  • ALG9 congenital disorder of glycosylation2 tests
  • Allan-Herndon-Dudley syndrome4 tests
  • alpha Thalassemia3 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-B crystallinopathy1 test
  • Alport syndrome 1, X-linked recessive3 tests
  • Alport syndrome 3, autosomal dominant2 tests
  • Alport syndrome, autosomal recessive3 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease4 tests
  • Alzheimer disease 24 tests
  • Alzheimer disease, type 35 tests
  • Alzheimer disease, type 46 tests
  • Amyloidogenic transthyretin amyloidosis3 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 172 tests
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophy, hereditary neuralgic2 tests
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome3 tests
  • Androgen resistance syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Anemia, sideroblastic, 11 test
  • Angelman syndrome5 tests
  • Angioosteohypertrophic syndrome1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3 tests
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 14 tests
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 31 test
  • Antithrombin III deficiency3 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Anxiety1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Apolipoprotein C2 deficiency2 tests
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency2 tests
  • Argininosuccinate lyase deficiency2 tests
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 23 tests
  • Arterial tortuosity syndrome1 test
  • Asperger syndrome X-linked 22 tests
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-oculomotor apraxia 41 test
  • Ataxia-oculomotor apraxia type 13 tests
  • Ataxia-telangiectasia syndrome4 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Ateleiotic dwarfism2 tests
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type II2 tests
  • Atelosteogenesis type III2 tests
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 31 test
  • Atypical hemolytic-uremic syndrome 13 tests
  • Atypical hemolytic-uremic syndrome 23 tests
  • Atypical hemolytic-uremic syndrome 31 test
  • Atypical hemolytic-uremic syndrome 41 test
  • Atypical hemolytic-uremic syndrome 51 test
  • Atypical hemolytic-uremic syndrome 61 test
  • Autism 161 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 22 tests
  • Autism, susceptibility to, X-linked 31 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune thyroid disease 31 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant hypophosphatemic rickets3 tests
  • Autosomal dominant isolated somatotropin deficiency2 tests
  • Autosomal dominant nonsyndromic deafness 172 tests
  • Autosomal dominant nonsyndromic deafness 224 tests
  • Autosomal dominant nonsyndromic deafness 2A2 tests
  • Autosomal dominant nonsyndromic deafness 62 tests
  • Autosomal dominant optic atrophy classic form3 tests
  • Autosomal dominant osteopetrosis 12 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 13 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
  • Autosomal dominant pseudohypoaldosteronism type 12 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive DOPA responsive dystonia2 tests
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
  • Autosomal recessive multiple pterygium syndrome1 test
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive polycystic kidney disease5 tests
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Azorean disease4 tests
  • B4GALT1-CDG1 test
  • Baller-Gerold syndrome1 test
  • Bamforth-Lazarus syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Bardet-Biedl syndrome4 tests
  • Bardet-Biedl syndrome 101 test
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 162 tests
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 21 test
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 41 test
  • Bardet-Biedl syndrome 51 test
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 71 test
  • Bardet-Biedl syndrome 81 test
  • Bardet-Biedl syndrome 91 test
  • Bare lymphocyte syndrome 25 tests
  • Bartsocas-Papas syndrome1 test
  • Bartter disease type 4a4 tests
  • Bartter syndrome type 32 tests
  • Bartter syndrome, type 1, antenatal2 tests
  • Bartter syndrome, type 2, antenatal3 tests
  • Bartter syndrome, type 4b1 test
  • Basal cell carcinoma, susceptibility to, 11 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Beare-Stevenson cutis gyrata syndrome2 tests
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome3 tests
  • Benign familial hematuria1 test
  • Benign familial neonatal seizures 14 tests
  • Benign familial neonatal seizures 22 tests
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy6 tests
  • beta Thalassemia2 tests
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bile acid synthesis defect, congenital, 51 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency2 tests
  • Blau syndrome3 tests
  • Blepharophimosis, ptosis, and epicanthus inversus2 tests
  • Bloom syndrome1 test
  • Bone mineral density quantitative trait locus 11 test
  • Bone osteosarcoma1 test
  • Boomerang dysplasia1 test
  • Brachydactyly type B21 test
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia1 test
  • Brain small vessel disease with hemorrhage2 tests
  • Branchiootorenal Syndrome 12 tests
  • Breast-ovarian cancer, familial 19 tests
  • Breast-ovarian cancer, familial 29 tests
  • Breast-ovarian cancer, familial 32 tests
  • Breast-ovarian cancer, familial 42 tests
  • Brody myopathy1 test
  • Bronchiectasis with or without elevated sweat chloride 12 tests
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Brooke-Spiegler syndrome1 test
  • Bruck syndrome 21 test
  • Brugada syndrome 12 tests
  • Brugada syndrome 22 tests
  • Brugada syndrome 33 tests
  • Brugada syndrome 42 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 71 test
  • Brugada syndrome 82 tests
  • Brugada syndrome 92 tests
  • C syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia2 tests
  • Capillary malformation-arteriovenous malformation 11 test
  • CARASIL syndrome1 test
  • Carbonic anhydrase VA deficiency, hyperammonemia due to1 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of colon3 tests
  • Carcinoma of pancreas3 tests
  • Cardiac arrhythmia, ankyrin B-related2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency3 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 33 tests
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy, dilated, 1u1 test
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase 1A deficiency2 tests
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced3 tests
  • Carpenter syndrome 11 test
  • Catecholaminergic polymorphic ventricular tachycardia type 16 tests
  • Central core myopathy3 tests
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 16 tests
  • Cerebral cavernous malformation4 tests
  • Cerebral cavernous malformations 22 tests
  • Cerebral cavernous malformations 32 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 31 test
  • Ceroid lipofuscinosis neuronal 22 tests
  • Ceroid lipofuscinosis, neuronal, 111 test
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • CFHR5 deficiency1 test
  • Charcot-Marie-Tooth disease and deafness2 tests
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2H2 tests
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease dominant intermediate d2 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B1 test
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, dominant intermediate E1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A3 tests
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B23 tests
  • Charcot-Marie-Tooth disease, type 4C3 tests
  • Charcot-Marie-Tooth disease, type 4D2 tests
  • Charcot-Marie-Tooth disease, type 4H1 test
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • Charcot-Marie-Tooth Neuropathy X Type 12 tests
  • CHARGE association2 tests
  • Charlevoix-Saguenay spastic ataxia3 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Cholestanol storage disease2 tests
  • Cholestasis, benign recurrent intrahepatic 11 test
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, progressive familial intrahepatic 11 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chondrosarcoma1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chudley-McCullough syndrome2 tests
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 111 test
  • Ciliary dyskinesia, primary, 121 test
  • Ciliary dyskinesia, primary, 131 test
  • Ciliary dyskinesia, primary, 141 test
  • Ciliary dyskinesia, primary, 151 test
  • Ciliary dyskinesia, primary, 161 test
  • Ciliary dyskinesia, primary, 171 test
  • Ciliary dyskinesia, primary, 181 test
  • Ciliary dyskinesia, primary, 191 test
  • Ciliary dyskinesia, primary, 21 test
  • Ciliary dyskinesia, primary, 201 test
  • Ciliary dyskinesia, primary, 32 tests
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 61 test
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 91 test
  • Citrullinemia type I4 tests
  • Citrullinemia type II3 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3 tests
  • Classic homocystinuria2 tests
  • Cleidocranial dysostosis1 test
  • Cobalamin C disease2 tests
  • Cockayne syndrome B1 test
  • Coenzyme Q10 deficiency, primary 11 test
  • Coenzyme Q10 deficiency, primary, 21 test
  • Coenzyme Q10 deficiency, primary, 43 tests
  • Coenzyme Q10 deficiency, primary, 51 test
  • Coenzyme Q10 deficiency, primary, 61 test
  • Coffin-Lowry syndrome2 tests
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation1 test
  • Cohen syndrome2 tests
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Combined immunodeficiency, X-linked1 test
  • Combined oxidative phosphorylation deficiency 71 test
  • Combined saposin deficiency1 test
  • Common variable immunodeficiency 12 tests
  • Common variable immunodeficiency 111 test
  • Common variable immunodeficiency 22 tests
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 71 test
  • Complement component 9 deficiency1 test
  • Complete trisomy 21 syndrome1 test
  • Cone dystrophy 32 tests
  • Cone dystrophy 42 tests
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 101 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 121 test
  • Cone-rod dystrophy 132 tests
  • Cone-rod dystrophy 151 test
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 24 tests
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy, X-linked 13 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation3 tests
  • Congenital chromosomal disease4 tests
  • Congenital contractural arachnodactyly3 tests
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type 1M1 test
  • Congenital disorder of glycosylation type 1N3 tests
  • Congenital disorder of glycosylation type 1O2 tests
  • Congenital disorder of glycosylation type 1P1 test
  • Congenital disorder of glycosylation type 1Q1 test
  • Congenital disorder of glycosylation type 1t3 tests
  • Congenital disorder of glycosylation type 2B2 tests
  • Congenital disorder of glycosylation type 2F1 test
  • Congenital disorder of glycosylation type 2H1 test
  • Congenital disorder of glycosylation type 2i1 test
  • Congenital disorder of glycosylation type 2J1 test
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type Ia3 tests
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital hydrocephalus 11 test
  • Congenital hyperammonemia, type I2 tests
  • Congenital hypomyelinating neuropathy 1, autosomal recessive1 test
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital muscular dystrophy, LMNA-related1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B57 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A56 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A24 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A46 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A74 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B15 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B34 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B62 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
  • Congenital muscular hypertrophy-cerebral syndrome2 tests
  • Congenital myasthenic syndrome 122 tests
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 1B, fast-channel4 tests
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 4C3 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive2 tests
  • Congenital myopathy with fiber type disproportion4 tests
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital stationary night blindness, type 2B1 test
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, posterior polymorphous, 22 tests
  • Cornelia de Lange syndrome 13 tests
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Costello syndrome3 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 51 test
  • Cowden syndrome 71 test
  • Cranioectodermal dysplasia 11 test
  • Cranioectodermal dysplasia 21 test
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 41 test
  • Craniofrontonasal syndrome1 test
  • Craniosynostosis 11 test
  • Craniosynostosis 21 test
  • Craniosynostosis and dental anomalies1 test
  • Creatine transporter deficiency1 test
  • Creutzfeldt-Jakob Disease, Familial1 test
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cryohydrocytosis1 test
  • Culler-Jones syndrome1 test
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutaneous malignant melanoma 23 tests
  • Cutaneous malignant melanoma 33 tests
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa, autosomal dominant 12 tests
  • Cystic fibrosis6 tests
  • Dalmatian hypouricemia1 test
  • Danon disease4 tests
  • Deafness dystonia syndrome2 tests
  • Deafness, autosomal dominant 12 tests
  • Deafness, autosomal dominant 102 tests
  • Deafness, autosomal dominant 113 tests
  • Deafness, autosomal dominant 123 tests
  • Deafness, autosomal dominant 133 tests
  • Deafness, autosomal dominant 152 tests
  • Deafness, autosomal dominant 202 tests
  • Deafness, autosomal dominant 252 tests
  • Deafness, autosomal dominant 282 tests
  • Deafness, autosomal dominant 2b3 tests
  • Deafness, autosomal dominant 364 tests
  • Deafness, autosomal dominant 3a6 tests
  • Deafness, autosomal dominant 3b6 tests
  • Deafness, autosomal dominant 42 tests
  • Deafness, autosomal dominant 402 tests
  • Deafness, autosomal dominant 442 tests
  • Deafness, autosomal dominant 4b2 tests
  • Deafness, autosomal dominant 52 tests
  • Deafness, autosomal dominant 502 tests
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal recessive 122 tests
  • Deafness, autosomal recessive 152 tests
  • Deafness, autosomal recessive 183 tests
  • Deafness, autosomal recessive 1A8 tests
  • Deafness, autosomal recessive 1b6 tests
  • Deafness, autosomal recessive 22 tests
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 233 tests
  • Deafness, autosomal recessive 242 tests
  • Deafness, autosomal recessive 252 tests
  • Deafness, autosomal recessive 282 tests
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 313 tests
  • Deafness, autosomal recessive 352 tests
  • Deafness, autosomal recessive 373 tests
  • Deafness, autosomal recessive 392 tests
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct5 tests
  • Deafness, autosomal recessive 422 tests
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 492 tests
  • Deafness, autosomal recessive 532 tests
  • Deafness, autosomal recessive 593 tests
  • Deafness, autosomal recessive 63 tests
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 632 tests
  • Deafness, autosomal recessive 672 tests
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 742 tests
  • Deafness, autosomal recessive 772 tests
  • Deafness, autosomal recessive 792 tests
  • Deafness, autosomal recessive 83 tests
  • Deafness, autosomal recessive 842 tests
  • Deafness, autosomal recessive 95 tests
  • Deafness, autosomal recessive 912 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial3 tests
  • Deafness, X-linked 21 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease5 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease type 12 tests
  • Dent disease type 22 tests
  • Dentatorubral-pallidoluysian atrophy2 tests
  • Dentinogenesis imperfecta type 21 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • Desbuquois dysplasia 11 test
  • Desbuquois dysplasia 21 test
  • Developmental and epileptic encephalopathy 941 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, insulin-dependent, 21 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
  • Diabetes-deafness syndrome maternally transmitted2 tests
  • Diamond-Blackfan anemia3 tests
  • Diamond-Blackfan anemia 12 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 42 tests
  • Diamond-Blackfan anemia 52 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphyseal dysplasia1 test
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia3 tests
  • DiGeorge Syndrome2 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A3 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G4 tests
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 3B1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Distal arthrogryposis type 1A5 tests
  • Distal arthrogryposis type 1B1 test
  • Distal arthrogryposis type 2B5 tests
  • Distal hereditary motor neuronopathy type 53 tests
  • Distal spinal muscular atrophy, autosomal recessive 21 test
  • Distichiasis-lymphedema syndrome2 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Dowling-Degos disease 11 test
  • DPAGT1-CDG2 tests
  • Duane retraction syndrome 21 test
  • Duchenne muscular dystrophy2 tests
  • Dyskeratosis congenita autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dyskeratosis congenita, X-linked1 test
  • Dystonia 12 tests
  • Dystonia 122 tests
  • Dystonia 161 test
  • Dystonia 53 tests
  • Dystonia 91 test
  • Early infantile epileptic encephalopathy 101 test
  • Early infantile epileptic encephalopathy 115 tests
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 151 test
  • Early infantile epileptic encephalopathy 161 test
  • Early infantile epileptic encephalopathy 24 tests
  • Early infantile epileptic encephalopathy 43 tests
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 73 tests
  • Early infantile epileptic encephalopathy 81 test
  • Early infantile epileptic encephalopathy 95 tests
  • Early myoclonic encephalopathy1 test
  • EAST syndrome1 test
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3 tests
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal2 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive3 tests
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae2 tests
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
  • EEM syndrome2 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome dermatosparaxis type1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome, arthrochalasia type, 12 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type6 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, type 34 tests
  • Ehlers-Danlos syndrome, type 44 tests
  • Eichsfeld type congenital muscular dystrophy1 test
  • Eiken syndrome1 test
  • Elliptocytosis 21 test
  • Ellis-van Creveld syndrome2 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
  • Endometrial carcinoma4 tests
  • Endplate acetylcholinesterase deficiency2 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex Dowling-Meara type2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with pyloric atresia1 test
  • Epidermolysis bullosa simplex, autosomal recessive1 test
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epilepsy, childhood absence 11 test
  • Epilepsy, childhood absence 22 tests
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, childhood absence 62 tests
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, familial temporal lobe, 71 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, idiopathic generalized 102 tests
  • Epilepsy, idiopathic generalized 71 test
  • Epilepsy, idiopathic generalized 92 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, idiopathic generalized, susceptibility to, 123 tests
  • Epilepsy, juvenile absence, susceptibility to, 12 tests
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, nocturnal frontal lobe, type 12 tests
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 42 tests
  • Epilepsy, progressive myoclonic 31 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epileptic encephalopathy, early infantile, 14 tests
  • Epileptic encephalopathy, early infantile, 193 tests
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 271 test
  • Epileptic encephalopathy, early infantile, 281 test
  • Epileptic encephalopathy, early infantile, 291 test
  • Epileptic encephalopathy, early infantile, 311 test
  • Epileptic encephalopathy, early infantile, 361 test
  • Epiphyseal dysplasia, multiple, 22 tests
  • Epiphyseal dysplasia, multiple, 32 tests
  • Episodic ataxia type 15 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia, type 54 tests
  • Episodic ataxia, type 64 tests
  • Episodic kinesigenic dyskinesia 11 test
  • Erythrocytosis, familial, 32 tests
  • Erythrocytosis, familial, 41 test
  • Essential hypertension1 test
  • Exercise-induced hyperinsulinism1 test
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 43 tests
  • Exudative vitreoretinopathy 51 test
  • Fabry disease3 tests
  • Factor VII deficiency1 test
  • Factor XII deficiency disease1 test
  • Failure of tooth eruption, primary1 test
  • Familial adenomatous polyposis 15 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial myxoma1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast12 tests
  • Familial colorectal cancer1 test
  • Familial dysautonomia2 tests
  • Familial exudative vitreoretinopathy, X-linked3 tests
  • Familial febrile seizures 83 tests
  • Familial hemiplegic migraine type 13 tests
  • Familial hemiplegic migraine type 22 tests
  • Familial hemiplegic migraine type 32 tests
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hemophagocytic lymphohistiocytosis 32 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia 11 test
  • Familial hypercholesterolemia 24 tests
  • Familial hypercholesterolemia 32 tests
  • Familial hypercholesterolemia 41 test
  • Familial hyperkalemic periodic paralysis7 tests
  • Familial hypertriglyceridemia2 tests
  • Familial hypertrophic cardiomyopathy 13 tests
  • Familial hypertrophic cardiomyopathy 102 tests
  • Familial hypertrophic cardiomyopathy 112 tests
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 132 tests
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 22 tests
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 32 tests
  • Familial hypertrophic cardiomyopathy 43 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 72 tests
  • Familial hypertrophic cardiomyopathy 82 tests
  • Familial hypertrophic cardiomyopathy 94 tests
  • Familial hypokalemia-hypomagnesemia3 tests
  • Familial infantile myasthenia3 tests
  • Familial isolated deficiency of vitamin E4 tests
  • Familial isolated hypoparathyroidism4 tests
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever5 tests
  • Familial medullary thyroid carcinoma6 tests
  • Familial partial lipodystrophy 21 test
  • Familial partial lipodystrophy 31 test
  • Familial partial lipodystrophy 41 test
  • Familial partial lipodystrophy 51 test
  • Familial partial lipodystrophy 61 test
  • Familial porphyria cutanea tarda1 test
  • Familial renal glucosuria1 test
  • Familial temporal lobe epilepsy 12 tests
  • Familial type 5 hyperlipoproteinemia2 tests
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia, complementation group A3 tests
  • Fanconi anemia, complementation group B2 tests
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D12 tests
  • Fanconi anemia, complementation group D22 tests
  • Fanconi anemia, complementation group E2 tests
  • Fanconi anemia, complementation group F2 tests
  • Fanconi anemia, complementation group G2 tests
  • Fanconi anemia, complementation group I2 tests
  • Fanconi anemia, complementation group J3 tests
  • Fanconi anemia, complementation group L2 tests
  • Fanconi anemia, complementation group N2 tests
  • Fanconi anemia, complementation group O2 tests
  • Fanconi anemia, complementation group P2 tests
  • Fanconi anemia, complementation group Q1 test
  • Fanconi-Bickel syndrome3 tests
  • Farber lipogranulomatosis1 test
  • Fatty liver disease, nonalcoholic 11 test
  • Febrile seizures, familial, 111 test
  • Feingold syndrome 12 tests
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 21 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome3 tests
  • Floating-Harbor syndrome1 test
  • Focal dermal hypoplasia1 test
  • Focal facial dermal dysplasia 3, Setleis type1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 22 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 53 tests
  • Focal segmental glomerulosclerosis 62 tests
  • Focal segmental glomerulosclerosis 71 test
  • Fragile X syndrome1 test
  • Frank-Ter Haar syndrome2 tests
  • Fraser syndrome 11 test
  • FRAXE2 tests
  • Freeman-Sheldon syndrome2 tests
  • Friedreich ataxia 13 tests
  • Frontotemporal dementia2 tests
  • Fructose-biphosphatase deficiency1 test
  • Fuhrmann syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency3 tests
  • Gastrointestinal stromal tumor7 tests
  • Gaucher disease type I2 tests
  • Gaucher disease type II2 tests
  • Gaucher disease type III2 tests
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal2 tests
  • Geleophysic dysplasia 21 test
  • Generalized dominant dystrophic epidermolysis bullosa3 tests
  • Generalized epilepsy with febrile seizures plus, type 13 tests
  • Generalized epilepsy with febrile seizures plus, type 23 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Generalized juvenile polyposis/juvenile polyposis coli4 tests
  • Geroderma osteodysplastica1 test
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Glaucoma 1, open angle, A3 tests
  • Glaucoma 1, open angle, F2 tests
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, O2 tests
  • Glaucoma 3, primary congenital, A3 tests
  • Glaucoma 3, primary congenital, d3 tests
  • Glaucoma, normal tension, susceptibility to1 test
  • Glucocorticoid deficiency with achalasia2 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucose-6-phosphate transport defect4 tests
  • GLUT1 deficiency syndrome 12 tests
  • GLUT1 deficiency syndrome 21 test
  • Glutaric aciduria, type 13 tests
  • Gluthathione synthetase deficiency1 test
  • Glycogen storage disease 0, muscle2 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease of heart, lethal congenital2 tests
  • Glycogen storage disease type III5 tests
  • Glycogen storage disease type IXa12 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XI2 tests
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II5 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V6 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII4 tests
  • GNE myopathy2 tests
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome2 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 23 tests
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
  • Hair morphology 11 test
  • Hay-Wells syndrome of ectodermal dysplasia1 test
  • Hb SS disease1 test
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 33 tests
  • Hemochromatosis type 41 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatocellular carcinoma1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 11 test
  • Hereditary angioedema type 31 test
  • Hereditary coproporphyria2 tests
  • Hereditary diffuse gastric cancer4 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary fructosuria2 tests
  • Hereditary hemorrhagic telangiectasia type 15 tests
  • Hereditary hyperferritinemia with congenital cataracts2 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I2 tests
  • Hereditary mixed polyposis syndrome 21 test
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary neutrophilia1 test
  • Hereditary nonpolyposis colorectal cancer type 44 tests
  • Hereditary nonpolyposis colorectal cancer type 55 tests
  • Hereditary nonpolyposis colorectal cancer type 61 test
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary nonpolyposis colorectal cancer type 83 tests
  • Hereditary pancreatitis8 tests
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sensory and autonomic neuropathy type IIA1 test
  • Hereditary sensory neuropathy type IE1 test
  • Hereditary spastic paraplegia 102 tests
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 23 tests
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A2 tests
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 73 tests
  • Hereditary spastic paraplegia 81 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Hirschsprung disease 12 tests
  • HNSHA due to aldolase A deficiency1 test
  • Holoprosencephaly 111 test
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 31 test
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 72 tests
  • Holoprosencephaly 91 test
  • Holt-Oram syndrome1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
  • Human HOXA1 syndromes1 test
  • Huntington disease1 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
  • Hyper-IgM syndrome type 11 test
  • Hyperaldosteronism, familial, type I1 test
  • Hyperammonemia, type III1 test
  • Hyperekplexia 12 tests
  • Hyperekplexia 21 test
  • Hyperekplexia 32 tests
  • Hyperimmunoglobulin D with periodic fever3 tests
  • Hyperinsulinemic hypoglycemia familial 51 test
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome3 tests
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia, type I4 tests
  • Hyperlipoproteinemia, type ID1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism 12 tests
  • Hyperparathyroidism 22 tests
  • Hyperphosphatemic familial tumoral calcinosis 12 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hyperthyroidism, nonautoimmune1 test
  • Hypertrophic cardiomyopathy 252 tests
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalcemia, autosomal dominant 13 tests
  • Hypocalcemia, autosomal dominant 22 tests
  • Hypocalciuric hypercalcemia, familial, type 14 tests
  • Hypocalciuric hypercalcemia, familial, type II1 test
  • Hypocalciuric hypercalcemia, familial, type III2 tests
  • Hypochondroplasia3 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)3 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis 14 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 5, renal, with ocular involvement2 tests
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypomyelination, global cerebral1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration3 tests
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis vulgaris1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic nephrotic syndrome3 tests
  • Idiopathic Pulmonary Fibrosis4 tests
  • Imerslund-Gräsbeck syndrome1 test
  • Immunodeficiency 131 test
  • Immunodeficiency 141 test
  • Immunodeficiency, common variable, 121 test
  • Immunoglobulin A deficiency 21 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Infantile myofibromatosis 11 test
  • Infantile nephronophthisis2 tests
  • Infantile neuroaxonal dystrophy3 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Inflammatory bowel disease 12 tests
  • Intellectual disability1 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Intervertebral disc disorder2 tests
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect3 tests
  • Irido-corneo-trabecular dysgenesis1 test
  • Isolated growth hormone deficiency type IB2 tests
  • Isolated sulfite oxidase deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • Jackson-Weiss syndrome3 tests
  • Jalili syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Joubert syndrome 101 test
  • Joubert syndrome 131 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 21 test
  • Joubert syndrome 241 test
  • Joubert syndrome 33 tests
  • Joubert syndrome 41 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome with hepatic defect1 test
  • Junctional epidermolysis bullosa gravis of Herlitz2 tests
  • Junctional epidermolysis bullosa, non-Herlitz type2 tests
  • Juvenile myoclonic epilepsy3 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Juvenile retinoschisis2 tests
  • Kabuki syndrome 13 tests
  • Kabuki syndrome 22 tests
  • Kallmann syndrome 31 test
  • Kartagener syndrome2 tests
  • KBG syndrome1 test
  • Kearns Sayre syndrome1 test
  • Kennedy disease1 test
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia2 tests
  • Knobloch syndrome 11 test
  • Kosaki overgrowth syndrome1 test
  • Kostmann syndrome2 tests
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Kufor-Rakeb syndrome2 tests
  • Kugelberg-Welander disease2 tests
  • L-ferritin deficiency1 test
  • Lafora disease4 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome2 tests
  • Late-onset retinal degeneration1 test
  • LCAT deficiency1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 133 tests
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 62 tests
  • Leber congenital amaurosis 73 tests
  • Leber congenital amaurosis 81 test
  • Leber congenital amaurosis 91 test
  • Leber hereditary optic neuropathy2 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 62 tests
  • Legius syndrome1 test
  • Leigh syndrome4 tests
  • LEOPARD syndrome 13 tests
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome1 test
  • Lethal Kniest-like syndrome1 test
  • Lethal tight skin contracture syndrome2 tests
  • Leukocyte adhesion deficiency type II2 tests
  • Leukodystrophy, adult-onset, autosomal dominant2 tests
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy with dystonia and motor neuropathy2 tests
  • Leukoencephalopathy with vanishing white matter4 tests
  • Leukoencephalopathy, cystic, without megalencephaly1 test
  • Leydig cell hypoplasia, type 12 tests
  • Li-Fraumeni syndrome 11 test
  • Liddle syndrome 13 tests
  • Limb-girdle muscular dystrophy, type 1E3 tests
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy, type 2J4 tests
  • Limb-girdle muscular dystrophy, type 2L2 tests
  • Limb-girdle muscular dystrophy, type 2Q2 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C17 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C26 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C34 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C57 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C93 tests
  • Lipase deficiency, combined1 test
  • Lissencephaly 2, X-linked3 tests
  • Lissencephaly 31 test
  • Lissencephaly 41 test
  • Lissencephaly 51 test
  • Lissencephaly due to LIS1 mutation3 tests
  • Lissencephaly, X-linked4 tests
  • Localized epidermolysis bullosa simplex2 tests
  • Loeys-Dietz syndrome 14 tests
  • Loeys-Dietz syndrome 24 tests
  • Loeys-Dietz syndrome 32 tests
  • Long QT syndrome 13 tests
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 142 tests
  • Long QT syndrome 23 tests
  • Long QT syndrome 32 tests
  • Long QT syndrome 53 tests
  • Long QT syndrome 63 tests
  • Long QT syndrome 91 test
  • Lowe syndrome1 test
  • Lung carcinoma4 tests
  • Lymphatic malformation 31 test
  • Lymphedema, primary, with myelodysplasia2 tests
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lynch syndrome I5 tests
  • Lynch syndrome II6 tests
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly/autism syndrome1 test
  • Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular degeneration, early-onset1 test
  • Macular dystrophy, patterned, 13 tests
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Majeed syndrome1 test
  • Malignant hyperthermia, susceptibility to, 14 tests
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of esophagus1 test
  • Malignant tumor of prostate2 tests
  • Malignant tumor of testis2 tests
  • Mannose-binding protein deficiency1 test
  • Maple syrup urine disease2 tests
  • Maple syrup urine disease, type 34 tests
  • Marfan syndrome4 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome1 test
  • Marshall-Smith syndrome1 test
  • MASA syndrome1 test
  • MASS syndrome1 test
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young type 43 tests
  • Maturity-onset diabetes of the young type 63 tests
  • Maturity-onset diabetes of the young type 72 tests
  • Maturity-onset diabetes of the young type 92 tests
  • Maturity-onset diabetes of the young, type 13 tests
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 112 tests
  • Maturity-onset diabetes of the young, type 132 tests
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 34 tests
  • McCune-Albright syndrome3 tests
  • Meckel syndrome type 11 test
  • Meckel syndrome type 61 test
  • Meckel syndrome type 71 test
  • Meckel syndrome type 82 tests
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 42 tests
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 91 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Medulloblastoma1 test
  • Meesmann corneal dystrophy 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • Melanoma and neural system tumor syndrome2 tests
  • Melanoma-pancreatic cancer syndrome1 test
  • MEND syndrome1 test
  • Meningioma, familial3 tests
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 30, X-linked1 test
  • Mental retardation 46, X-linked1 test
  • Mental retardation 58, X-linked1 test
  • Mental retardation 63, X-linked1 test
  • Mental retardation 9, X-linked1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation with language impairment and with or without autistic features1 test
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 141 test
  • Mental retardation, autosomal dominant 151 test
  • Mental retardation, autosomal dominant 162 tests
  • Mental retardation, autosomal recessive 151 test
  • Mental retardation, autosomal recessive 381 test
  • Mental retardation, autosomal recessive 73 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
  • Mental retardation, syndromic 14, X-linked1 test
  • Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
  • Mental retardation, with or without seizures, ARX-related, X-linked2 tests
  • Mental retardation, X-linked 191 test
  • Mental retardation, X-linked 451 test
  • Mental retardation, X-linked 931 test
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked, syndromic 131 test
  • Merosin deficient congenital muscular dystrophy3 tests
  • MERRF syndrome1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatrophic dysplasia1 test
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
  • Microcephaly, normal intelligence and immunodeficiency3 tests
  • Microphthalmia, isolated 24 tests
  • Microphthalmia, isolated 52 tests
  • Microphthalmia, isolated 62 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, syndromic 121 test
  • Microspherophakia1 test
  • Miller Dieker syndrome2 tests
  • Minicore myopathy with external ophthalmoplegia1 test
  • Mitchell-Riley syndrome1 test
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex II deficiency, nuclear type 12 tests
  • 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 IV deficiency3 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy1 test
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 32 tests
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 51 test
  • MPDU1-CDG1 test
  • MPI-CDG2 tests
  • Mucolipidosis type II1 test
  • Mucolipidosis type III gamma2 tests
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome3 tests
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiple acyl-CoA dehydrogenase deficiency2 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital exostosis3 tests
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 2a6 tests
  • Multiple endocrine neoplasia, type 2b5 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple epiphyseal dysplasia 13 tests
  • Multiple epiphyseal dysplasia 62 tests
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia type 52 tests
  • Multiple Epiphyseal Dysplasia, Dominant1 test
  • Multiple exostoses type 23 tests
  • Multiple fibrofolliculomas3 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Multiple self-healing squamous epithelioma1 test
  • Multiple sulfatase deficiency1 test
  • Multiple system atrophy2 tests
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease6 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
  • Muscular dystrophy, limb-girdle, type 2R3 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 74 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 141 test
  • Myasthenic syndrome, congenital, 2a, slow-channel1 test
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel1 test
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 4a, slow-channel1 test
  • Myasthenic syndrome, congenital, 4b, fast-channel1 test
  • Myasthenic syndrome, congenital, 81 test
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, slow-channel congenital4 tests
  • Myelodysplastic syndrome1 test
  • Myelofibrosis3 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • MYH-associated polyposis3 tests
  • MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
  • Myoclonic dystonia 114 tests
  • Myofibrillar myopathy 12 tests
  • Myofibrillar myopathy 34 tests
  • Myofibrillar myopathy, BAG3-related1 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, distal, 11 test
  • Myopathy, distal, with anterior tibial onset2 tests
  • Myopathy, early-onset, with fatal cardiomyopathy2 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure2 tests
  • Myopathy, myosin storage, autosomal recessive2 tests
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopia 61 test
  • Myosin storage myopathy2 tests
  • Myotonic dystrophy type 21 test
  • Nager syndrome1 test
  • Nail-patella syndrome2 tests
  • Nanophthalmos 21 test
  • NARP syndrome1 test
  • Navajo neurohepatopathy1 test
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 33 tests
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 71 test
  • Neonatal intrahepatic cholestasis caused by citrin deficiency1 test
  • Neoplasm of ovary1 test
  • Neoplasm of stomach3 tests
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 121 test
  • Nephronophthisis 131 test
  • Nephronophthisis 161 test
  • Nephronophthisis 32 tests
  • Nephronophthisis 41 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities2 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Netherton syndrome2 tests
  • Neurodegeneration with brain iron accumulation 2b2 tests
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis 13 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 33 tests
  • Neuronal ceroid lipofuscinosis 4B1 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 62 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage myopathy1 test
  • Neutropenia, nonimmune chronic idiopathic, of adults1 test
  • Neutropenia, severe congenital 1, autosomal dominant3 tests
  • Neutrophil immunodeficiency syndrome1 test
  • Niemann-Pick disease type C12 tests
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C22 tests
  • Nijmegen breakage syndrome-like disorder1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia4 tests
  • Nonpersistence of intestinal lactase1 test
  • Noonan syndrome 12 tests
  • Noonan syndrome 33 tests
  • Noonan syndrome 41 test
  • Noonan syndrome 52 tests
  • Noonan syndrome 61 test
  • Noonan syndrome 72 tests
  • Noonan syndrome 81 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Norman-Roberts syndrome1 test
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity1 test
  • Occult macular dystrophy1 test
  • Ocular albinism, type I2 tests
  • Ocular cystinosis1 test
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 41 test
  • Oculofaciocardiodental syndrome1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Oligodontia-colorectal cancer syndrome1 test
  • Opitz GBBB syndrome, type I1 test
  • Optic atrophy 31 test
  • Optic atrophy 71 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia, bilateral1 test
  • Ornithine carbamoyltransferase deficiency4 tests
  • Orofacial cleft 51 test
  • Orofaciodigital syndrome type 61 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III4 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form4 tests
  • Osteogenesis imperfecta, recessive perinatal lethal4 tests
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 51 test
  • Osteopetrosis, autosomal recessive 81 test
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Ovalocytosis, southeast Asian1 test
  • Ovarian dysgenesis 21 test
  • Pallister-Hall syndrome3 tests
  • Pancreatic agenesis 21 test
  • Pancreatic agenesis and congenital heart disease1 test
  • Pancreatic cancer 22 tests
  • Pancreatic cancer 31 test
  • Panhypopituitarism, X-linked1 test
  • Paragangliomas 14 tests
  • Paragangliomas 24 tests
  • Paragangliomas 34 tests
  • Paragangliomas 43 tests
  • Paragangliomas 52 tests
  • Paramyotonia congenita of von Eulenburg5 tests
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma3 tests
  • Parkes Weber syndrome1 test
  • Parkinson disease 14 tests
  • Parkinson disease 142 tests
  • Parkinson disease 151 test
  • Parkinson disease 171 test
  • Parkinson disease 24 tests
  • Parkinson disease 41 test
  • Parkinson disease 6, autosomal recessive early-onset3 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant4 tests
  • Paroxysmal familial ventricular fibrillation 11 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1 test
  • Peeling skin syndrome 11 test
  • Pelizaeus-Merzbacher disease5 tests
  • Pena-Shokeir syndrome type I2 tests
  • Pendred syndrome6 tests
  • Periventricular nodular heterotopia 11 test
  • Permanent neonatal diabetes mellitus3 tests
  • Peroxisomal acyl-CoA oxidase deficiency1 test
  • Peroxisome biogenesis disorder 10A1 test
  • Peroxisome biogenesis disorder 11A1 test
  • Peroxisome biogenesis disorder 11B2 tests
  • Peroxisome biogenesis disorder 12A1 test
  • Peroxisome biogenesis disorder 13A1 test
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B2 tests
  • Peroxisome biogenesis disorder 3A1 test
  • Peroxisome biogenesis disorder 4a (zellweger)1 test
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5a (zellweger)1 test
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A1 test
  • Peroxisome biogenesis disorder 6B2 tests
  • Peroxisome biogenesis disorder 7A1 test
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A1 test
  • Peroxisome biogenesis disorder 8B2 tests
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorder type 3B2 tests
  • Perrault syndrome 12 tests
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Peters plus syndrome3 tests
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome5 tests
  • Phenylketonuria3 tests
  • Pheochromocytoma3 tests
  • Phosphate transport defect1 test
  • Phosphoglycerate kinase 1 deficiency2 tests
  • Phytanic acid storage disease2 tests
  • Pigmentary pallidal degeneration3 tests
  • Pigmentary retinal dystrophy6 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pilomatrixoma4 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 11 test
  • Pituitary hormone deficiency, combined 22 tests
  • Pituitary hormone deficiency, combined 61 test
  • Pituitary hormone deficiency, combined, 12 tests
  • Polycystic kidney disease 23 tests
  • Polycystic kidney disease, adult type3 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic liver disease 12 tests
  • Polycythemia vera3 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymicrogyria, bilateral frontoparietal1 test
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
  • Porphobilinogen synthase deficiency1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome2 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Postmenopausal osteoporosis2 tests
  • Potassium-aggravated myotonia2 tests
  • Prader-Willi syndrome3 tests
  • Premature aging syndrome, Penttinen type1 test
  • Pretibial epidermolysis bullosa1 test
  • Primary autosomal recessive microcephaly 121 test
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 41 test
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 61 test
  • Primary erythromelalgia1 test
  • Primary familial polycythemia due to EPO receptor mutation1 test
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III1 test
  • Primary hypomagnesemia1 test
  • Primary open angle glaucoma2 tests
  • Primary pulmonary hypertension 13 tests
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 31 test
  • Primary pulmonary hypertension 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive familial heart block type IB1 test
  • Progressive familial intrahepatic cholestasis 22 tests
  • Progressive familial intrahepatic cholestasis 33 tests
  • Progressive familial intrahepatic cholestasis 41 test
  • Progressive myositis ossificans1 test
  • Progressive pseudorheumatoid dysplasia2 tests
  • Progressive sclerosing poliodystrophy3 tests
  • Prolactin-producing pituitary gland adenoma2 tests
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia1 test
  • Proteus syndrome2 tests
  • Protoporphyria, erythropoietic, 12 tests
  • Prune belly syndrome1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome3 tests
  • Pseudoexfoliation glaucoma2 tests
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum3 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyridoxine-dependent epilepsy3 tests
  • Pyruvate dehydrogenase complex deficiency1 test
  • Pyruvate dehydrogenase E1-alpha deficiency2 tests
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Rapadilino syndrome1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma, nonpapillary1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal cysts and diabetes syndrome3 tests
  • Renal hypodysplasia/aplasia 12 tests
  • Renal hypomagnesemia 21 test
  • Renal tubular acidosis with progressive nerve deafness2 tests
  • Renal tubular acidosis, distal, with hemolytic anemia2 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation2 tests
  • Renpenning syndrome 12 tests
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 41 test
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 102 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 141 test
  • Retinitis pigmentosa 152 tests
  • Retinitis pigmentosa 173 tests
  • Retinitis pigmentosa 182 tests
  • Retinitis pigmentosa 193 tests
  • Retinitis pigmentosa 23 tests
  • Retinitis pigmentosa 203 tests
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 272 tests
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 312 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 352 tests
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 372 tests
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 43 tests
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 482 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 503 tests
  • Retinitis pigmentosa 511 test
  • Retinitis pigmentosa 542 tests
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 72 tests
  • Retinitis pigmentosa 92 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
  • Retinoblastoma3 tests
  • Rett syndrome3 tests
  • Rett syndrome, congenital variant2 tests
  • Rhabdoid tumor predisposition syndrome 12 tests
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rippling muscle disease 25 tests
  • Robinow syndrome, autosomal dominant 11 test
  • Robinow syndrome, autosomal recessive1 test
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome2 tests
  • Rubinstein-Taybi syndrome 12 tests
  • Saethre-Chotzen syndrome2 tests
  • Sandhoff disease1 test
  • Sarcotubular myopathy4 tests
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schizophrenia 171 test
  • Schneckenbecken dysplasia2 tests
  • Schopf-Schulz-Passarge syndrome1 test
  • Schwannomatosis 11 test
  • Schwartz-Jampel syndrome2 tests
  • Seckel syndrome 13 tests
  • Seckel syndrome 41 test
  • Seckel syndrome 61 test
  • Secondary hypothyroidism1 test
  • Seizures, benign familial infantile, 33 tests
  • Seizures, scoliosis, and macrocephaly syndrome1 test
  • Senior-Loken syndrome 52 tests
  • Senior-Loken syndrome 81 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Septo-optic dysplasia sequence3 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
  • Severe congenital neutropenia 2, autosomal dominant2 tests
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Severe X-linked myotubular myopathy3 tests
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • Short-rib thoracic dysplasia 3 with or without polydactyly1 test
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 13 tests
  • Sialuria1 test
  • Silver-Russell syndrome 11 test
  • Simpson-Golabi-Behmel syndrome type 13 tests
  • Sitosterolemia1 test
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Small cell lung carcinoma1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Solitary median maxillary central incisor syndrome1 test
  • Somatotroph adenoma2 tests
  • Sotos syndrome 13 tests
  • Sotos syndrome 21 test
  • Spastic ataxia 5, autosomal recessive2 tests
  • Spastic paraplegia 11, autosomal recessive2 tests
  • Spastic paraplegia 173 tests
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 31, autosomal dominant2 tests
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 353 tests
  • Spastic paraplegia 4, autosomal dominant3 tests
  • Spastic paraplegia 42, autosomal dominant1 test
  • Spastic paraplegia 43, autosomal recessive1 test
  • Spastic paraplegia 44, autosomal recessive2 tests
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic paraplegia 55, autosomal recessive1 test
  • Spastic paraplegia 76, autosomal recessive1 test
  • Speech-language disorder 12 tests
  • Spermatogenic failure, Y-linked 21 test
  • Spherocytosis type 12 tests
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 11 test
  • Spinal muscular atrophy, type II2 tests
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy, X-linked 21 test
  • Spinocerebellar ataxia 352 tests
  • Spinocerebellar ataxia 362 tests
  • Spinocerebellar ataxia 75 tests
  • Spinocerebellar ataxia type 14 tests
  • Spinocerebellar ataxia type 103 tests
  • Spinocerebellar ataxia type 113 tests
  • Spinocerebellar ataxia type 122 tests
  • Spinocerebellar ataxia type 133 tests
  • Spinocerebellar ataxia type 144 tests
  • Spinocerebellar Ataxia Type 152 tests
  • Spinocerebellar ataxia type 173 tests
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/222 tests
  • Spinocerebellar ataxia type 25 tests
  • Spinocerebellar ataxia type 232 tests
  • Spinocerebellar ataxia type 273 tests
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 292 tests
  • Spinocerebellar ataxia type 41 test
  • Spinocerebellar ataxia type 54 tests
  • Spinocerebellar ataxia type 65 tests
  • Spinocerebellar ataxia type 83 tests
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 111 test
  • Spinocerebellar ataxia, autosomal recessive 142 tests
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 23 tests
  • Spinocerebellar ataxia, X-linked 11 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
  • Spondylocostal dysostosis 1, autosomal recessive3 tests
  • Spondylocostal dysostosis 2, autosomal recessive2 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness1 test
  • Spondylometaphyseal dysplasia, Kozlowski type3 tests
  • Spongy degeneration of central nervous system1 test
  • Stargardt disease 13 tests
  • Stargardt Disease 32 tests
  • Stargardt disease 41 test
  • Steinert myotonic dystrophy syndrome2 tests
  • Stickler syndrome type 14 tests
  • Stickler syndrome type 22 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Stiff skin syndrome1 test
  • Stocco dos Santos syndrome1 test
  • Sturge-Weber syndrome1 test
  • Stüve-Wiedemann syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Supravalvar aortic stenosis2 tests
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 32 tests
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Surfactant metabolism dysfunction, pulmonary, 51 test
  • Syndromic microphthalmia type 51 test
  • Syndromic X-linked intellectual disability Lubs type3 tests
  • Systemic lupus erythematosus 161 test
  • Tay-Sachs disease2 tests
  • Telangiectasia, hereditary hemorrhagic, type 24 tests
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 11 test
  • Thrombocythemia 11 test
  • Thrombocythemia 31 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombocytosis, benign familial microcytic2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive2 tests
  • Thyroglobulin synthesis defect2 tests
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Thyroid hormone resistance, generalized, autosomal dominant4 tests
  • Thyroid hormone resistance, generalized, autosomal recessive3 tests
  • Thyroid hormone resistance, selective pituitary1 test
  • Thyrotoxic periodic paralysis 22 tests
  • Tietz syndrome1 test
  • Timothy syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)3 tests
  • Tooth agenesis, selective, 31 test
  • Torsion dystonia 62 tests
  • Townes-Brocks syndrome 11 test
  • Transient bullous dermolysis of the newborn1 test
  • Transient neonatal diabetes mellitus 21 test
  • Transient neonatal diabetes mellitus 32 tests
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Trichothiodystrophy 1, photosensitive2 tests
  • Trichothiodystrophy 2, photosensitive2 tests
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 5, nonphotosensitive1 test
  • Trichothiodystrophy, nonphotosensitive 11 test
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 21 test
  • Trimethylaminuria2 tests
  • Troyer syndrome1 test
  • Tuberous sclerosis 111 tests
  • Tuberous sclerosis 22 tests
  • Turcot syndrome7 tests
  • Type 2 diabetes mellitus4 tests
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type I1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy 11 test
  • Upshaw-Schulman syndrome1 test
  • Urinary bladder cancer1 test
  • Usher syndrome type 12 tests
  • Usher syndrome type 1D3 tests
  • Usher syndrome type 1F3 tests
  • Usher syndrome, type 1C2 tests
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1J2 tests
  • Usher syndrome, type 2A3 tests
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D2 tests
  • Usher Syndrome, Type III2 tests
  • VACTERL association, X-linked, with or without hydrocephalus1 test
  • van der Woude syndrome 11 test
  • Variegate porphyria1 test
  • VATER association1 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 42 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3 tests
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Visceral heterotaxy 5, autosomal2 tests
  • Visceral myopathy1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy type 22 tests
  • Vitreoretinochoroidopathy1 test
  • Von Hippel-Lindau syndrome3 tests
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • Von Willebrand disease, recessive form1 test
  • Waardenburg syndrome type 13 tests
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Wagner syndrome2 tests
  • Warburg micro syndrome 12 tests
  • Weaver syndrome2 tests
  • Weill-Marchesani syndrome 12 tests
  • Weill-Marchesani syndrome 21 test
  • Werdnig-Hoffmann disease2 tests
  • Werner syndrome1 test
  • Williams syndrome3 tests
  • Wilms tumor 12 tests
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern2 tests
  • Wolfram syndrome 13 tests
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome, autosomal dominant1 test
  • Wrinkly skin syndrome1 test
  • X-linked agammaglobulinemia2 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked cone-rod dystrophy 32 tests
  • X-linked dystonia-parkinsonism2 tests
  • X-linked hydrocephalus syndrome3 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked intellectual disability-hypotonic face syndrome1 test
  • X-Linked Mental Retardation 411 test
  • X-Linked mental retardation 901 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum variant type1 test
  • Xeroderma pigmentosum, complementation group b2 tests
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D2 tests
  • Zinc deficiency, transient neonatal1 test
  • ZNF711-Related X-linked Mental Retardation1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing

Participation in external programs

Standardization programs

  • Other

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

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