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GTR Home > Laboratories > Genetic Services Laboratory

Genetic Services Laboratory

GTR Lab ID: 1238, Last updated:2022-10-26

Personnel

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-M syndrome1 test
  • 3-methylglutaconic aciduria type 12 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia1 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 46,XX sex reversal 11 test
  • 46,XX sex reversal 41 test
  • 46,XY disorder of sex development2 tests
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1 test
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 21 test
  • 46,XY sex reversal 62 tests
  • 46,XY sex reversal 72 tests
  • 46,XY sex reversal 92 tests
  • Abdominal obesity-metabolic syndrome 32 tests
  • Acampomelic campomelic dysplasia with autosomal sex reversal1 test
  • Acquired hemoglobin H disease1 test
  • Acquired partial lipodystrophy3 tests
  • Acrocallosal syndrome1 test
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acrodysostosis 2 with or without hormone resistance2 tests
  • Acromelic frontonasal dysostosis1 test
  • Actin accumulation myopathy3 tests
  • Action myoclonus-renal failure syndrome1 test
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute myeloid leukemia5 tests
  • ADan amyloidosis1 test
  • Adenylosuccinate lyase deficiency2 tests
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
  • Adrenal hypoplasia, congenital, with precocious puberty1 test
  • Adrenoleukodystrophy2 tests
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi-Goutieres syndrome 71 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • Albinism1 test
  • Albright hereditary osteodystrophy1 test
  • Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
  • Alexander disease1 test
  • Allan-Herndon-Dudley syndrome4 tests
  • Alpha mannosidosis type II1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome4 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-thalassemia/intellectual disability syndrome1 test
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood2 tests
  • Alzheimer disease 31 test
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Aminoacylase 1 deficiency1 test
  • Amish lethal microcephaly1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Androgen resistance syndrome2 tests
  • Angelman syndrome7 tests
  • Aniridia 12 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aplastic anemia1 test
  • Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
  • Argininosuccinate lyase deficiency1 test
  • Aromatase deficiency2 tests
  • Aromatase excess syndrome1 test
  • Arthrogryposis, distal, type 1A1 test
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis, distal, with impaired proprioception and touch1 test
  • Arthrogryposis-like hand anomaly-sensorineural deafness syndrome1 test
  • Asphyxiating thoracic dystrophy 32 tests
  • Asphyxiating thoracic dystrophy 51 test
  • Ataxia1 test
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
  • Ataxia - oculomotor apraxia type 42 tests
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Ataxia-pancytopenia syndrome5 tests
  • Ataxia-telangiectasia syndrome2 tests
  • Ataxia-telangiectasia-like disorder1 test
  • Atypical Gaucher disease due to saposin C deficiency1 test
  • Atypical hemolytic-uremic syndrome1 test
  • Autism, susceptibility to, 181 test
  • Autoimmune disease1 test
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1 test
  • Autoimmune lymphoproliferative syndrome type 2A1 test
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
  • Autosomal dominant aplasia and myelodysplasia1 test
  • Autosomal dominant centronuclear myopathy3 tests
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G2 tests
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant Opitz G/BBB syndrome1 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal dominant polycystic liver disease1 test
  • Autosomal recessive ataxia due to ubiquinone deficiency1 test
  • Autosomal recessive ataxia, Beauce type1 test
  • Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency1 test
  • Autosomal recessive Dejerine-Sottas syndrome1 test
  • Autosomal recessive DOPA responsive dystonia2 tests
  • Autosomal recessive infantile hypercalcemia1 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type R182 tests
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive primary microcephaly1 test
  • Autosomal recessive Robinow syndrome3 tests
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spastic paraplegia type 781 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 111 test
  • Autosomal recessive spinocerebellar ataxia 121 test
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 151 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 21 test
  • Autosomal recessive spinocerebellar ataxia 201 test
  • Azorean disease1 test
  • Bailey-Bloch congenital myopathy2 tests
  • Baller-Gerold syndrome1 test
  • Bamforth-Lazarus syndrome1 test
  • Band heterotopia of brain1 test
  • Baraitser-winter syndrome 21 test
  • Bardet-Biedl syndrome4 tests
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 61 test
  • Bartsocas-Papas syndrome1 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Beckwith-Wiedemann syndrome2 tests
  • Benign hereditary chorea1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bernard Soulier syndrome1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
  • Bethlem myopathy 12 tests
  • Bethlem myopathy 22 tests
  • Bilateral frontoparietal polymicrogyria2 tests
  • Biotin-responsive basal ganglia disease2 tests
  • Biotinidase deficiency1 test
  • Bloom syndrome2 tests
  • Bone marrow failure syndrome 32 tests
  • Bone marrow failure syndrome 51 test
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Brain-lung-thyroid syndrome1 test
  • Branchiootorenal Spectrum Disorders1 test
  • Breast and/or ovarian cancer3 tests
  • Breast cancer, susceptibility to3 tests
  • Breast neoplasm5 tests
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • C syndrome1 test
  • C3 deficiency1 test
  • CADDS1 test
  • Campomelic dysplasia with autosomal sex reversal1 test
  • CARASIL syndrome1 test
  • Carcinoma of colon1 test
  • Carcinoma of pancreas1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Carney complex1 test
  • Carney-Stratakis syndrome1 test
  • Carpenter syndrome1 test
  • Cayman type cerebellar ataxia1 test
  • CEDNIK syndrome1 test
  • Central core myopathy3 tests
  • Central hypothyroidism1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
  • Cerebellar ataxia and hypergonadotropic hypogonadism1 test
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome2 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED1 test
  • Cerebral creatine deficiency syndrome2 tests
  • Cerebral folate transport deficiency2 tests
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • CHARGE association4 tests
  • Charlevoix-Saguenay spastic ataxia2 tests
  • Child syndrome1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2 tests
  • Childhood onset GLUT1 deficiency syndrome 22 tests
  • CHIME syndrome1 test
  • Cholestanol storage disease2 tests
  • Chorea-acanthocytosis1 test
  • Christianson syndrome3 tests
  • Chronic mucocutaneous candidiasis1 test
  • Chédiak-Higashi syndrome1 test
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic Hodgkin lymphoma1 test
  • Cleidocranial dysostosis1 test
  • Coats plus syndrome2 tests
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Cockayne syndrome1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Coffin-Siris syndrome1 test
  • Coffin-Siris syndrome 12 tests
  • Coffin-Siris syndrome 51 test
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2 tests
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome1 test
  • Cohen-Gibson syndrome1 test
  • Cole-Carpenter syndrome 21 test
  • Collagen IV-related nephropathies1 test
  • Colorectal cancer4 tests
  • Colorectal cancer, hereditary nonpolyposis, type 61 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined immunodeficiency1 test
  • Combined immunodeficiency due to LRBA deficiency2 tests
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation deficiency1 test
  • Combined pituitary hormone deficiencies, genetic form1 test
  • Common variable agammaglobulinemia1 test
  • Complete trisomy 21 syndrome2 tests
  • Complex cortical dysplasia with other brain malformations1 test
  • Complex cortical dysplasia with other brain malformations 11 test
  • Complex cortical dysplasia with other brain malformations 21 test
  • Complex cortical dysplasia with other brain malformations 41 test
  • Complex cortical dysplasia with other brain malformations 62 tests
  • Compton-North congenital myopathy3 tests
  • Congenital adrenal hyperplasia2 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2 tests
  • Congenital amegakaryocytic thrombocytopenia3 tests
  • Congenital bile acid synthesis defect 31 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital cerebellar hypoplasia1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
  • Congenital defect of folate absorption1 test
  • Congenital disorder of glycosylation5 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 24 tests
  • Congenital generalized lipodystrophy type 34 tests
  • Congenital generalized lipodystrophy type 42 tests
  • Congenital hyperammonemia, type I1 test
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
  • Congenital multicore myopathy with external ophthalmoplegia3 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency2 tests
  • Congenital muscular dystrophy due to LMNA mutation2 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
  • Congenital myasthenic syndrome3 tests
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 123 tests
  • Congenital myasthenic syndrome 133 tests
  • Congenital myasthenic syndrome 143 tests
  • Congenital myasthenic syndrome 151 test
  • Congenital myasthenic syndrome 163 tests
  • Congenital myasthenic syndrome 181 test
  • Congenital myasthenic syndrome 192 tests
  • Congenital myasthenic syndrome 4A2 tests
  • Congenital myasthenic syndrome 4C3 tests
  • Congenital myasthenic syndrome 53 tests
  • Congenital myasthenic syndrome 72 tests
  • Congenital myasthenic syndrome 82 tests
  • Congenital myopathy3 tests
  • Congenital myopathy with excess of muscle spindles3 tests
  • Congenital myopathy with fiber type disproportion2 tests
  • Congenital myopathy with internal nuclei and atypical cores3 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Cowden syndrome5 tests
  • Cranioectodermal dysplasia1 test
  • Cranioectodermal dysplasia 41 test
  • Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome1 test
  • Craniofrontonasal syndrome3 tests
  • Craniosynostosis 62 tests
  • Craniosynostosis and dental anomalies1 test
  • Craniosynostosis syndrome1 test
  • Crigler-Najjar syndrome1 test
  • Cryptophthalmos syndrome1 test
  • Currarino triad1 test
  • Curry-Hall syndrome1 test
  • Cutis laxa1 test
  • Cyclical neutropenia1 test
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Cytochrome c oxidase i deficiency1 test
  • D-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 21 test
  • Dandy-Walker syndrome1 test
  • Danon disease2 tests
  • DDX41-related hematologic malignancy predisposition syndrome1 test
  • De Lange syndrome2 tests
  • Deafness dystonia syndrome1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase2 tests
  • Dentatorubral-pallidoluysian atrophy1 test
  • Desmin-related myofibrillar myopathy2 tests
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy 943 tests
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 122 tests
  • Developmental and epileptic encephalopathy, 132 tests
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 152 tests
  • Developmental and epileptic encephalopathy, 163 tests
  • Developmental and epileptic encephalopathy, 171 test
  • Developmental and epileptic encephalopathy, 182 tests
  • Developmental and epileptic encephalopathy, 192 tests
  • Developmental and epileptic encephalopathy, 23 tests
  • Developmental and epileptic encephalopathy, 212 tests
  • Developmental and epileptic encephalopathy, 242 tests
  • Developmental and epileptic encephalopathy, 252 tests
  • Developmental and epileptic encephalopathy, 262 tests
  • Developmental and epileptic encephalopathy, 272 tests
  • Developmental and epileptic encephalopathy, 283 tests
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 312 tests
  • Developmental and epileptic encephalopathy, 322 tests
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 441 test
  • Developmental and epileptic encephalopathy, 52 tests
  • Developmental and epileptic encephalopathy, 511 test
  • Developmental and epileptic encephalopathy, 72 tests
  • Developmental and epileptic encephalopathy, 82 tests
  • Developmental and epileptic encephalopathy, 93 tests
  • Developmental delay with autism spectrum disorder and gait instability2 tests
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Diabetes mellitus2 tests
  • Diabetes mellitus, transient neonatal, 11 test
  • Diamond-Blackfan anemia3 tests
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 112 tests
  • Diamond-Blackfan anemia 122 tests
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 91 test
  • DICER1 syndrome1 test
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
  • DiGeorge syndrome1 test
  • Dihydropteridine reductase deficiency1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Distal arthrogryposis1 test
  • Distal arthrogryposis type 2B11 test
  • Distal arthrogryposis type 5D1 test
  • DNA ligase IV deficiency3 tests
  • Donnai-Barrow syndrome1 test
  • DOORS syndrome2 tests
  • Dopa-responsive dystonia1 test
  • DPM3-congenital disorder of glycosylation2 tests
  • Drash syndrome3 tests
  • DYRK1A-related intellectual disability syndrome4 tests
  • Dyskeratosis congenita5 tests
  • Dyskeratosis congenita, autosomal dominant 63 tests
  • Dyskeratosis congenita, autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal recessive 52 tests
  • Dyskinesia with orofacial involvement, autosomal dominant1 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 28, childhood-onset1 test
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
  • Dystonic disorder3 tests
  • Early infantile epileptic encephalopathy with suppression bursts4 tests
  • Early myoclonic encephalopathy2 tests
  • Early-onset Lafora body disease1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
  • Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 test
  • EAST syndrome1 test
  • Ehlers-Danlos syndrome3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2 tests
  • Ehlers-Danlos syndrome, musculocontractural type3 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Emery-Dreifuss muscular dystrophy2 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive2 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Encephalopathy due to GLUT1 deficiency3 tests
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
  • Endocrine-cerebro-osteodysplasia syndrome1 test
  • Epilepsy2 tests
  • Epilepsy, childhood absence, susceptibility to, 52 tests
  • Epilepsy, progressive myoclonic 2b1 test
  • Epilepsy, progressive myoclonic 51 test
  • Ethylmalonic encephalopathy3 tests
  • Exercise-induced hyperinsulinism1 test
  • Exudative vitreoretinopathy 71 test
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
  • Familial adenomatous polyposis 12 tests
  • Familial adenomatous polyposis 23 tests
  • Familial cancer of breast5 tests
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 51 test
  • Familial hyperinsulinism2 tests
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypoparathyroidism1 test
  • Familial infantile myasthenia1 test
  • Familial infantile myoclonic epilepsy3 tests
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial melanoma2 tests
  • Familial multiple polyposis syndrome3 tests
  • Familial partial lipodystrophy3 tests
  • Familial partial lipodystrophy, Dunnigan type3 tests
  • Familial partial lipodystrophy, Kobberling type3 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fanconi anemia3 tests
  • Fanconi anemia complementation group A1 test
  • Fanconi anemia complementation group B1 test
  • Fanconi anemia complementation group C1 test
  • Fanconi anemia complementation group D11 test
  • Fanconi anemia complementation group D21 test
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F1 test
  • Fanconi anemia complementation group G1 test
  • Fanconi anemia complementation group I1 test
  • Fanconi anemia complementation group J2 tests
  • Fanconi anemia complementation group L1 test
  • Fanconi anemia complementation group N4 tests
  • Fanconi anemia complementation group O3 tests
  • Fanconi anemia complementation group P1 test
  • Fanconi anemia complementation group Q1 test
  • Fanconi anemia complementation group R2 tests
  • Fanconi anemia complementation group T2 tests
  • Fanconi anemia complementation group U1 test
  • Fanconi anemia, complementation group S1 test
  • Feingold syndrome1 test
  • FG syndrome 13 tests
  • FG syndrome 21 test
  • Floating-Harbor syndrome1 test
  • Focal segmental glomerulosclerosis1 test
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia2 tests
  • Friedreich ataxia 11 test
  • Friedreich ataxia 21 test
  • Frontometaphyseal dysplasia1 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontorhiny2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
  • Fucosidosis1 test
  • Fumarase deficiency1 test
  • Galactosialidosis, adult1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Galloway-Mowat syndrome 11 test
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • Gastrointestinal stromal tumor1 test
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis3 tests
  • Generalized epilepsy with febrile seizures plus, type 23 tests
  • Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
  • Generalized juvenile polyposis/juvenile polyposis coli3 tests
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Glanzmann thrombasthenia1 test
  • Glioma susceptibility 95 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glutaric aciduria, type 11 test
  • Glutathione synthetase deficiency without 5-oxoprolinuria1 test
  • Glycogen storage disease2 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V2 tests
  • GM1 gangliosidosis1 test
  • GM1 gangliosidosis type 31 test
  • GM2-gangliosidosis, B, B1, AB variant1 test
  • GM3 synthase deficiency2 tests
  • GNE myopathy2 tests
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Gray platelet syndrome1 test
  • Greig cephalopolysyndactyly syndrome2 tests
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Griscelli syndrome type 31 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Hand-foot-genital syndrome1 test
  • Hecht syndrome1 test
  • Hemolytic anemia1 test
  • Hemolytic anemia due to glucophosphate isomerase deficiency1 test
  • Hemolytic-uremic syndrome1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary amyloidosis1 test
  • Hereditary breast ovarian cancer syndrome9 tests
  • Hereditary diffuse gastric adenocarcinoma3 tests
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary episodic ataxia1 test
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary nonpolyposis colon cancer7 tests
  • Hereditary pheochromocytoma-paraganglioma2 tests
  • Hereditary sideroblastic anemia2 tests
  • Hereditary spastic paraplegia1 test
  • Hereditary spastic paraplegia 171 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 351 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 571 test
  • Hereditary spastic paraplegia 621 test
  • Hereditary spastic paraplegia 751 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
  • Hermansky-Pudlak syndrome1 test
  • Heterotopia, periventricular, X-linked dominant1 test
  • Holocarboxylase synthetase deficiency1 test
  • Holoprosencephaly sequence1 test
  • Homocystinuria1 test
  • Hoyeraal-Hreidarsson syndrome1 test
  • Hydrocephalus1 test
  • Hydrolethalus syndrome 21 test
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive1 test
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 21 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency2 tests
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperkalemic periodic paralysis1 test
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
  • Hyperparathyroidism1 test
  • Hyperphenylalaninemia due to DNAJC12 deficiency1 test
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency2 tests
  • Hypertensive disorder1 test
  • Hypertrichosis cubiti-short stature syndrome1 test
  • Hypertrophic cardiomyopathy2 tests
  • Hypertrophic cardiomyopathy 91 test
  • Hypobetalipoproteinemia1 test
  • Hypocalcemia1 test
  • Hypocalcemia, autosomal dominant, with bartter syndrome1 test
  • Hypoceruloplasminemia2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 18 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy3 tests
  • Hypoparathyroidism1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatemic rickets2 tests
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypotonia1 test
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic Pulmonary Fibrosis2 tests
  • IMAGe syndrome2 tests
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 141 test
  • Immunodeficiency 231 test
  • Immunodeficiency, common variable, 21 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia2 tests
  • Infantile bilateral striatal necrosis2 tests
  • Infantile cerebellar-retinal degeneration1 test
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile neuroaxonal dystrophy2 tests
  • Infantile onset spinocerebellar ataxia1 test
  • Infantile-onset ascending hereditary spastic paralysis2 tests
  • Inherited bone marrow failure syndrome1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 12 tests
  • Intellectual disability, autosomal dominant 132 tests
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 271 test
  • Intellectual disability, autosomal dominant 401 test
  • Intellectual disability, autosomal dominant 421 test
  • Intellectual disability, autosomal dominant 431 test
  • Intellectual disability, autosomal dominant 52 tests
  • Intellectual disability, autosomal recessive 132 tests
  • Intellectual disability, autosomal recessive 341 test
  • Intellectual disability, autosomal recessive 432 tests
  • Intellectual disability, autosomal recessive 461 test
  • Intellectual disability, autosomal recessive 531 test
  • Intellectual disability, CASK-related, X-linked2 tests
  • Intellectual disability, profound4 tests
  • Intellectual disability, X-linked, syndromic, 352 tests
  • Intellectual disability, X-linked, syndromic, Bain type1 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability-cataracts-calcified pinnae-myopathy syndrome2 tests
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
  • Irinotecan response1 test
  • Johanson-Blizzard syndrome2 tests
  • Joubert syndrome5 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 102 tests
  • Joubert syndrome 131 test
  • Joubert syndrome 141 test
  • Joubert syndrome 152 tests
  • Joubert syndrome 161 test
  • Joubert syndrome 171 test
  • Joubert syndrome 183 tests
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 212 tests
  • Joubert syndrome 221 test
  • Joubert syndrome 231 test
  • Joubert syndrome 31 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Joubert syndrome with renal defect1 test
  • Juberg-Marsidi syndrome1 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome2 tests
  • Kabuki syndrome2 tests
  • Kabuki syndrome 11 test
  • KBG syndrome2 tests
  • Keppen-Lubinsky syndrome3 tests
  • Kleefstra syndrome 11 test
  • Knobloch syndrome1 test
  • Kufor-Rakeb syndrome3 tests
  • L-2-hydroxyglutaric aciduria3 tests
  • Landau-Kleffner syndrome2 tests
  • Leigh syndrome2 tests
  • LEOPARD syndrome 11 test
  • Lesch-Nyhan syndrome1 test
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome2 tests
  • Lethal osteosclerotic bone dysplasia1 test
  • Leukemia, acute lymphoblastic, susceptibility to1 test
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukodystrophy2 tests
  • Leukoencephalopathy1 test
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema1 test
  • Leukoencephalopathy, progressive, with ovarian failure2 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
  • Leydig cell agenesis2 tests
  • Leydig cell hypoplasia, type II1 test
  • Li-Fraumeni syndrome8 tests
  • Li-Fraumeni syndrome 21 test
  • Li-Fraumeni-like syndrome1 test
  • Lichtenstein-Knorr syndrome1 test
  • Limb-girdle muscular dystrophy3 tests
  • Limb-girdle muscular dystrophy due to POMK deficiency2 tests
  • Linear skin defects with multiple congenital anomalies 13 tests
  • LIPE-related familial partial lipodystrophy2 tests
  • Lipoyl transferase 1 deficiency1 test
  • Lissencephaly2 tests
  • Lissencephaly 42 tests
  • Lissencephaly 6 with microcephaly2 tests
  • Lissencephaly 7 with cerebellar hypoplasia1 test
  • Lissencephaly 81 test
  • Loeys-Dietz syndrome 21 test
  • Luscan-Lumish syndrome1 test
  • Lymphoma1 test
  • Lymphoma, non-Hodgkin, familial1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 21 test
  • Macrocephaly1 test
  • Macrocephaly and epileptic encephalopathy1 test
  • Macrocephaly, dysmorphic facies, and psychomotor retardation1 test
  • Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
  • Malan overgrowth syndrome1 test
  • Malignant hyperthermia of anesthesia1 test
  • Malignant hyperthermia, susceptibility to, 12 tests
  • Malignant tumor of esophagus1 test
  • Malignant tumor of thyroid gland1 test
  • Mandibular hypoplasia-deafness-progeroid syndrome3 tests
  • Mandibuloacral dysplasia with type B lipodystrophy3 tests
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Maple syrup urine disease1 test
  • Marinesco-Sjögren syndrome3 tests
  • Marshall-Smith syndrome1 test
  • Mast syndrome2 tests
  • Maturity onset diabetes mellitus in young2 tests
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 111 test
  • Maturity-onset diabetes of the young type 22 tests
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • McKusick-Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome, type 12 tests
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 42 tests
  • Meckel syndrome, type 52 tests
  • Meckel syndrome, type 62 tests
  • Meckel syndrome, type 82 tests
  • Meckel syndrome, type 92 tests
  • Meckel-Gruber syndrome4 tests
  • Megaconial type congenital muscular dystrophy3 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts3 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • MEGF10-Related Myopathy2 tests
  • MEHMO syndrome1 test
  • Meier-Gorlin syndrome2 tests
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Meier-Gorlin syndrome 71 test
  • Melanoma2 tests
  • Melanoma, cutaneous malignant, susceptibility to, 103 tests
  • Melnick-Needles syndrome1 test
  • Menkes kinky-hair syndrome1 test
  • Merosin deficient congenital muscular dystrophy3 tests
  • MERRF syndrome1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Methemoglobinemia type 42 tests
  • Methylmalonic acidemia1 test
  • Mevalonic aciduria1 test
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency1 test
  • Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
  • Microcephalic primordial dwarfism, Alazami type1 test
  • Microcephaly 1, primary, autosomal recessive1 test
  • Microcephaly 13, primary, autosomal recessive1 test
  • Microcephaly 14, primary, autosomal recessive1 test
  • Microcephaly 15, primary, autosomal recessive1 test
  • Microcephaly 17, primary, autosomal recessive2 tests
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
  • Microcephaly 3, primary, autosomal recessive1 test
  • Microcephaly 4, primary, autosomal recessive1 test
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microcephaly 6, primary, autosomal recessive1 test
  • Microcephaly 7, primary, autosomal recessive2 tests
  • Microcephaly 8, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive1 test
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly and chorioretinopathy 22 tests
  • Microcephaly and chorioretinopathy 31 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
  • Microcephaly with Polymicrogyria1 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microcephaly, seizures, and developmental delay4 tests
  • Microcephaly, short stature, and impaired glucose metabolism 13 tests
  • Microcephaly, short stature, and impaired glucose metabolism 22 tests
  • Microcephaly-capillary malformation syndrome1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Miller syndrome1 test
  • MIRAGE syndrome4 tests
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial disease2 tests
  • Mitochondrial DNA depletion syndrome 11 test
  • Mitochondrial DNA depletion syndrome 131 test
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
  • Mowat-Wilson syndrome4 tests
  • Muir-Torré syndrome4 tests
  • Mullerian aplasia and hyperandrogenism2 tests
  • Multiminicore myopathy2 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 23 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple self-healing squamous epithelioma1 test
  • Multiple sulfatase deficiency1 test
  • Muscular dystrophy-dystroglycanopathy3 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 73 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A133 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A142 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A23 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A93 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B143 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B32 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
  • Muscular dystrophy-dystroglycanopathy type B52 tests
  • Muscular dystrophy-dystroglycanopathy type B62 tests
  • Myasthenia, limb-girdle, autoimmune1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myelodysplasia2 tests
  • Myelodysplastic syndrome4 tests
  • MYH7-related skeletal myopathy2 tests
  • Myoclonic dystonia 261 test
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus, familial, 11 test
  • Myofibrillar myopathy2 tests
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 52 tests
  • Myofibrillar myopathy 62 tests
  • Myofibrillar myopathy 71 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, centronuclear, 33 tests
  • Myopathy, centronuclear, 52 tests
  • Myopathy, congenital, with fiber-type disproportion, X-linked1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure3 tests
  • Myopathy, proximal, and ophthalmoplegia2 tests
  • Myopathy, tubular aggregate, 22 tests
  • Myosin storage myopathy1 test
  • N-acetylaspartate deficiency1 test
  • Nager syndrome1 test
  • Navajo neurohepatopathy1 test
  • Nemaline myopathy2 tests
  • Nemaline myopathy 11 test
  • Nemaline myopathy 103 tests
  • Nemaline myopathy 23 tests
  • Nemaline myopathy 43 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 63 tests
  • Nemaline myopathy 73 tests
  • Nemaline myopathy 81 test
  • Nemaline myopathy 91 test
  • Neonatal diabetes mellitus3 tests
  • Neonatal diabetes mellitus with congenital hypothyroidism1 test
  • Neonatal-onset encephalopathy with rigidity and seizures1 test
  • Nephronophthisis4 tests
  • Nephronophthisis 121 test
  • Nephronophthisis 141 test
  • Nephronophthisis 151 test
  • Nephronophthisis 161 test
  • Nephronophthisis 181 test
  • Nephronophthisis 191 test
  • Nephrotic syndrome2 tests
  • Neu-Laxova syndrome 11 test
  • Neuroblastoma1 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
  • Neurodegeneration with brain iron accumulation3 tests
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neuroferritinopathy1 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1 test
  • Neuromuscular disease, congenital, with uniform type 1 fiber1 test
  • Neuronal ceroid lipofuscinosis2 tests
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuropathy, congenital hypomyelinating, autosomal dominant1 test
  • Neuropathy, hereditary motor and sensory, type 6B1 test
  • Neutral 1 amino acid transport defect1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Non-syndromic X-linked intellectual disability1 test
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Nonprogressive cerebellar atxia with intellectual disability1 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • NPHP3-related Meckel-like syndrome1 test
  • Obesity2 tests
  • Obesity due to congenital leptin deficiency1 test
  • Obesity due to leptin receptor gene deficiency1 test
  • Obesity due to pro-opiomelanocortin deficiency1 test
  • Obesity, hyperphagia, and developmental delay1 test
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism1 test
  • Oculocutaneous albinism type 72 tests
  • Oculodentodigital dysplasia2 tests
  • Oculofaciocardiodental syndrome1 test
  • Optic atrophy1 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Optic atrophy 111 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofacial-digital syndrome IV1 test
  • Orofaciodigital syndrome I2 tests
  • Osteocraniostenosis1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Ovarian cancer3 tests
  • Ovarian dysgenesis 12 tests
  • Ovarian dysgenesis 22 tests
  • Ovarian dysgenesis 33 tests
  • Palmoplantar hyperkeratosis and true hermaphroditism1 test
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome2 tests
  • Pancreatic agenesis 11 test
  • Pancytopenia due to IKZF1 mutations4 tests
  • Paragangliomas 12 tests
  • Paragangliomas 22 tests
  • Paragangliomas 32 tests
  • Paragangliomas 42 tests
  • Paragangliomas 51 test
  • Paris-Trousseau thrombocytopenia1 test
  • Parkinson disease1 test
  • Parkinsonism-dystonia, infantile1 test
  • Paroxysmal nonkinesigenic dyskinesia2 tests
  • Partial adenosine deaminase deficiency1 test
  • Partial androgen insensitivity syndrome2 tests
  • Paternal uniparental disomy of chromosome 141 test
  • PCWH syndrome1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pelviscapular dysplasia1 test
  • Pendred syndrome1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive3 tests
  • Peroxisome biogenesis disorder1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 31 test
  • Persistent Mullerian duct syndrome1 test
  • Peters plus syndrome3 tests
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome5 tests
  • PHARC syndrome1 test
  • Pheochromocytoma2 tests
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pitt-Hopkins syndrome4 tests
  • Pitt-Hopkins-like syndrome 21 test
  • Platelet-type bleeding disorder 151 test
  • Platelet-type bleeding disorder 161 test
  • Platelet-type bleeding disorder 171 test
  • Platelet-type bleeding disorder 191 test
  • Platelet-type bleeding disorder 201 test
  • Poikiloderma with neutropenia2 tests
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polyendocrine-polyneuropathy syndrome1 test
  • Polyposis syndrome, hereditary mixed, 11 test
  • Pontocerebellar hypoplasia type 21 test
  • Pontoneocerebellar hypoplasia1 test
  • Popliteal pterygium syndrome1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • PPARG-related familial partial lipodystrophy3 tests
  • Prader-Willi syndrome4 tests
  • Premature ovarian failure2 tests
  • Premature ovarian failure 32 tests
  • Premature ovarian failure 52 tests
  • Premature ovarian failure 62 tests
  • Premature ovarian failure 72 tests
  • Premature ovarian failure 92 tests
  • Primary Familial Brain Calcification 51 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
  • Progressive external ophthalmoplegia3 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive myoclonic epilepsy1 test
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 61 test
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myoclonic epilepsy type 91 test
  • Proximal myopathy with extrapyramidal signs1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudopseudohypoparathyroidism2 tests
  • PTEN hamartoma tumor syndrome4 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42 tests
  • Pure gonadal dysgenesis 46,XY1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate dehydrogenase complex deficiency2 tests
  • Qualitative or quantitative defects of dystrophin2 tests
  • Radial aplasia-thrombocytopenia syndrome2 tests
  • Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome1 test
  • RASopathy1 test
  • Refsum disease, adult, 11 test
  • Renal dysplasia and retinal aplasia1 test
  • Renal tubular dysgenesis1 test
  • Renpenning syndrome1 test
  • Retinitis pigmentosa 711 test
  • Rett syndrome5 tests
  • Rett syndrome, congenital variant3 tests
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Riboflavin transporter deficiency1 test
  • RIDDLE syndrome1 test
  • RIN2 syndrome1 test
  • Rippling muscle disease 22 tests
  • Roberts-SC phocomelia syndrome3 tests
  • Robinow syndrome1 test
  • Rubinstein-Taybi syndrome2 tests
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Saldino-Mainzer syndrome1 test
  • Salla disease1 test
  • Sandhoff disease1 test
  • Sarcotubular myopathy2 tests
  • Schaaf-Yang syndrome2 tests
  • Schinzel phocomelia syndrome1 test
  • Schinzel-Giedion syndrome2 tests
  • Sclerosteosis 21 test
  • Seckel syndrome2 tests
  • Seckel syndrome 21 test
  • Seckel syndrome 42 tests
  • Seckel syndrome 52 tests
  • Seckel syndrome 61 test
  • Seckel syndrome 71 test
  • Seckel syndrome 81 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Seizures, benign familial neonatal, 31 test
  • Senior-Loken syndrome 81 test
  • Sensorineural deafness with mild renal dysfunction1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe congenital neutropenia3 tests
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
  • Severe intellectual disability-progressive spastic diplegia syndrome1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neurodegenerative syndrome with lipodystrophy1 test
  • Severe X-linked myotubular myopathy3 tests
  • Shashi-Pena syndrome1 test
  • Short stature with microcephaly and distinctive facies2 tests
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature-brachydactyly-obesity-global developmental delay syndrome1 test
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • SHORT syndrome4 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 14 with polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman syndrome2 tests
  • Sialidosis type 11 test
  • Sifrim-Hitz-Weiss syndrome1 test
  • Silver-Russell syndrome 11 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Sitosterolemia1 test
  • Smith-Lemli-Opitz syndrome2 tests
  • Sotos syndrome2 tests
  • Spastic ataxia2 tests
  • Spastic ataxia 51 test
  • Spastic paraplegia2 tests
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity;3 tests
  • Spastic paraplegia-severe developmental delay-epilepsy syndrome2 tests
  • Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome3 tests
  • Spheroid body myopathy2 tests
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 12 tests
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 15/161 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 311 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 401 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 241 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome3 tests
  • SRD5A3-congenital disorder of glycosylation1 test
  • STAT3-related early-onset multisystem autoimmune disease2 tests
  • Statin-induced myopathy2 tests
  • Sterol carrier protein 2 deficiency1 test
  • Striatonigral degeneration, childhood-onset1 test
  • Stromme syndrome1 test
  • Subcortical laminar heterotopia, X-linked1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sudden infant death-dysgenesis of the testes syndrome1 test
  • Sulfite oxidase deficiency2 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
  • Syndromic X-linked intellectual disability 341 test
  • Syndromic X-linked intellectual disability Claes-Jensen type1 test
  • Syndromic X-linked intellectual disability Najm type4 tests
  • Tall stature-intellectual disability-facial dysmorphism syndrome1 test
  • Tay-Sachs disease1 test
  • TELO2-related intellectual disability-neurodevelopmental disorder1 test
  • Tenorio syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome1 test
  • Testicular anomalies with or without congenital heart disease2 tests
  • Testosterone 17-beta-dehydrogenase deficiency2 tests
  • Thrombocytopenia2 tests
  • Thrombocytopenia 11 test
  • Thrombocytopenia 23 tests
  • Thrombocytopenia 41 test
  • Thrombocytopenia 52 tests
  • Thyroid dyshormonogenesis1 test
  • Thyroid gland carcinoma1 test
  • Thyroid hormone resistance syndrome1 test
  • Tibial muscular dystrophy1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 41 test
  • Torsion dystonia 61 test
  • Townes-Brocks syndrome 11 test
  • Transcobalamin II deficiency1 test
  • Transitory neonatal diabetes mellitus1 test
  • Treacher Collins syndrome1 test
  • Troyer syndrome2 tests
  • Tuberous sclerosis syndrome2 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • Turcot syndrome4 tests
  • Type 2 diabetes mellitus2 tests
  • Typical absence seizure2 tests
  • Ullrich congenital muscular dystrophy 12 tests
  • Upshaw-Schulman syndrome1 test
  • Urocanate hydratase deficiency1 test
  • Usher syndrome type 3B1 test
  • Van den Ende-Gupta syndrome1 test
  • Van Maldergem syndrome 21 test
  • Vanishing white matter disease1 test
  • Vasculitis due to ADA2 deficiency1 test
  • Vitamin B12-responsive methylmalonic acidemia, type cblDv21 test
  • Von Hippel-Lindau syndrome3 tests
  • Von Willebrand disease type 2B1 test
  • Waardenburg syndrome type 2A1 test
  • Walker-Warburg congenital muscular dystrophy1 test
  • Warburg micro syndrome1 test
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 41 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
  • Weaver syndrome2 tests
  • Werner syndrome2 tests
  • West syndrome2 tests
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolfram syndrome2 tests
  • Wolfram syndrome 21 test
  • Woodhouse-Sakati syndrome1 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked erythropoietic protoporphyria1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • X-linked intellectual disability1 test
  • X-linked intellectual disability Cabezas type2 tests
  • X-linked intellectual disability, Cantagrel type2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome3 tests
  • X-linked lissencephaly with abnormal genitalia2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked progressive cerebellar ataxia1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia with ataxia1 test
  • Xeroderma pigmentosum2 tests
  • Yunis-Varon syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Carrier testing
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • Repeat Expansion Testing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 14D0671659, Expiration date: 2023-02-27
  • CAP, Number: 18827-01, Expiration date: 2022-10-02

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800865, Expiration date: 2022-05-13
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2314, Effective date: 2018-07-01 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 33894, Expiration date: 2022-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO01061, Expiration date: 2022-12-30

Participation in external programs

Standardization programs

  • CETT Program (Collaboration Education and Test Translation)

Data exchange Programs

  • CETT Program (Collaboration Education and Test Translation)

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.