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GTR Home > Laboratories > Genome Diagnostics Laboratory

Genome Diagnostics Laboratory

GTR Lab ID: 274978, Last updated:2021-05-21
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Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 22 tests
  • 46,XY sex reversal 31 test
  • Aarskog syndrome1 test
  • Acne inversa, familial, 11 test
  • Acne inversa, familial, 21 test
  • Acquired hemoglobin H disease1 test
  • Acromicric dysplasia1 test
  • Actin accumulation myopathy2 tests
  • Action myoclonus-renal failure syndrome1 test
  • Acute myeloid leukemia1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 31 test
  • Aicardi-Goutieres syndrome 41 test
  • Aicardi-Goutieres syndrome 51 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta hypomaturation type 2A41 test
  • Amelogenesis imperfecta type 1C1 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 2, juvenile2 tests
  • Amyotrophic lateral sclerosis type 43 tests
  • Amyotrophic lateral sclerosis type 62 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Andersen Tawil syndrome1 test
  • Androgen resistance syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome2 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular dysplasia 13 tests
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 113 tests
  • Arrhythmogenic right ventricular dysplasia 123 tests
  • Arrhythmogenic right ventricular dysplasia 22 tests
  • Arrhythmogenic right ventricular dysplasia 53 tests
  • Arrhythmogenic right ventricular dysplasia 83 tests
  • Arrhythmogenic right ventricular dysplasia 93 tests
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis, distal, type 1A1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 133 tests
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 21 test
  • Atrial septal defect 32 tests
  • Atrial septal defect 41 test
  • Atrial septal defect 52 tests
  • Atrial septal defect 71 test
  • Atrioventricular septal defect 31 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect, susceptibility to, 21 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, X-linked 32 tests
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2 tests
  • Autoimmune lymphoproliferative syndrome type 13 tests
  • Autoimmune lymphoproliferative syndrome type 2A2 tests
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autoimmune lymphoproliferative syndrome type 42 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 32 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 52 tests
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
  • Azorean disease1 test
  • Becker muscular dystrophy1 test
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign Rolandic epilepsy1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency1 test
  • Blau syndrome1 test
  • Blepharophimosis - intellectual disability syndrome, MKB type1 test
  • BLOOD GROUP--DIEGO SYSTEM1 test
  • BLOOD GROUP--FROESE1 test
  • BLOOD GROUP--SWANN SYSTEM1 test
  • BLOOD GROUP--WALDNER TYPE1 test
  • BLOOD GROUP--WRIGHT ANTIGEN1 test
  • BNAR syndrome1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Branchiootic syndrome 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Brugada syndrome 12 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 41 test
  • Brugada syndrome 53 tests
  • Brugada syndrome 61 test
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Candidiasis, familial, 62 tests
  • Carcinoma of pancreas2 tests
  • Cardiac arrhythmia, ankyrin-B-related1 test
  • Cardiac conduction abnormality1 test
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy2 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carpal tunnel syndrome1 test
  • Cataract 16 multiple types2 tests
  • Catecholaminergic polymorphic ventricular tachycardia 12 tests
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • CBL-related disorder1 test
  • Central core myopathy1 test
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformation 21 test
  • Cerebral cavernous malformation 31 test
  • Cerebral folate transport deficiency1 test
  • Cernunnos-XLF deficiency1 test
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 4J1 test
  • Chilblain lupus 11 test
  • Chilblain lupus 21 test
  • Childhood onset GLUT1 deficiency syndrome 24 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Christianson syndrome1 test
  • Chromosome 2P16.3 deletion syndrome1 test
  • Chromosome Xp11.22 duplication syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Ch├ędiak-Higashi syndrome1 test
  • Classic homocystinuria1 test
  • Cleft palate with or without ankyloglossia, X-linked1 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Colorectal cancer, hereditary nonpolyposis, type 61 test
  • Combined immunodeficiency due to DOCK8 deficiency3 tests
  • Combined immunodeficiency due to LRBA deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency2 tests
  • Combined immunodeficiency with skin granulomas1 test
  • Combined immunodeficiency, X-linked1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital heart disease1 test
  • Congenital microvillous atrophy1 test
  • Congenital multicore myopathy with external ophthalmoplegia1 test
  • Congenital muscular dystrophy due to LMNA mutation2 tests
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Conotruncal heart malformations1 test
  • Corpus callosum agenesis-abnormal genitalia syndrome2 tests
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome1 test
  • Craniometaphyseal dysplasia, autosomal recessive1 test
  • Creatine transporter deficiency1 test
  • Cutis laxa, autosomal dominant 12 tests
  • Danon disease1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of phosphoserine phosphatase2 tests
  • Desmin-related myofibrillar myopathy3 tests
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 13 tests
  • Developmental and epileptic encephalopathy, 113 tests
  • Developmental and epileptic encephalopathy, 121 test
  • Developmental and epileptic encephalopathy, 131 test
  • Developmental and epileptic encephalopathy, 142 tests
  • Developmental and epileptic encephalopathy, 163 tests
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 43 tests
  • Developmental and epileptic encephalopathy, 51 test
  • Developmental and epileptic encephalopathy, 72 tests
  • Developmental and epileptic encephalopathy, 82 tests
  • Developmental and epileptic encephalopathy, 93 tests
  • Diabetes insipidus, nephrogenic, autosomal1 test
  • Diabetes insipidus, nephrogenic, X-linked1 test
  • Diabetes mellitus type 11 test
  • DiGeorge syndrome1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I3 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P2 tests
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
  • Disorder of cardiovascular system1 test
  • Distal myopathy with posterior leg and anterior hand involvement2 tests
  • Distal myopathy, Tateyama type2 tests
  • DNA ligase IV deficiency1 test
  • DOORS syndrome3 tests
  • Duchenne muscular dystrophy1 test
  • DYRK1A-related intellectual disability syndrome1 test
  • Dystonia 94 tests
  • Early myoclonic encephalopathy2 tests
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • EAST syndrome1 test
  • Ectopia lentis 1, isolated, autosomal dominant1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 41 test
  • Elevated circulating creatine kinase concentration2 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Encephalopathy due to GLUT1 deficiency4 tests
  • Encephalopathy, acute, infection-induced, susceptibility to, 41 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, childhood absence, susceptibility to, 61 test
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 102 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 112 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 124 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 131 test
  • Epilepsy, idiopathic generalized, susceptibility to, 81 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, juvenile absence, susceptibility to, 11 test
  • Epilepsy, progressive myoclonic 51 test
  • Epilepsy, progressive myoclonic, 1B2 tests
  • Episodic ataxia type 11 test
  • Episodic ataxia type 23 tests
  • Episodic ataxia type 51 test
  • Episodic kinesigenic dyskinesia 12 tests
  • Fabry disease1 test
  • FADD-related immunodeficiency1 test
  • Familial acute necrotizing encephalopathy1 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial cold autoinflammatory syndrome 12 tests
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hemophagocytic lymphohistiocytosis 32 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hemophagocytic lymphohistiocytosis 52 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial infantile myoclonic epilepsy3 tests
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial partial lipodystrophy, Dunnigan type2 tests
  • Fanconi anemia complementation group D11 test
  • Farber lipogranulomatosis1 test
  • Febrile seizures, familial, 41 test
  • Febrile seizures, familial, 81 test
  • FG syndrome 11 test
  • Fibromatosis, gingival, 11 test
  • Fibrous dysplasia of jaw1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Fraser syndrome 13 tests
  • Friedreich ataxia 11 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
  • Geleophysic dysplasia 21 test
  • 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 epilepsy-paroxysmal dyskinesia syndrome1 test
  • Generalized pustular psoriasis2 tests
  • Glioma susceptibility 31 test
  • Graft-versus-host disease, susceptibility to1 test
  • Griscelli syndrome type 21 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • Heart-hand syndrome, Slovenian type2 tests
  • Hereditary spastic paraplegia 21 test
  • Hereditary spherocytosis type 11 test
  • Hereditary spherocytosis type 21 test
  • Hereditary spherocytosis type 31 test
  • Hereditary spherocytosis type 41 test
  • Hereditary spherocytosis type 51 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
  • Hermansky-Pudlak syndrome 21 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 5, autosomal1 test
  • Hirschsprung disease, susceptibility to, 31 test
  • Histiocytic medullary reticulosis1 test
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • HSD10 mitochondrial disease1 test
  • Hutchinson-Gilford syndrome2 tests
  • Hydatidiform mole, recurrent, 11 test
  • Hyper-IgE recurrent infection syndrome 12 tests
  • Hyper-IgM syndrome type 13 tests
  • Hyper-IgM syndrome type 22 tests
  • Hyper-IgM syndrome type 32 tests
  • Hyper-IgM syndrome type 51 test
  • Hyperekplexia 11 test
  • Hyperekplexia 21 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertrichotic osteochondrodysplasia Cantu type2 tests
  • Hypertrophic cardiomyopathy 12 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 112 tests
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 142 tests
  • Hypertrophic cardiomyopathy 151 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 183 tests
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypertrophic cardiomyopathy 32 tests
  • Hypertrophic cardiomyopathy 42 tests
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoplastic left heart syndrome 21 test
  • Hypospadias 1, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Idiopathic generalized epilepsy1 test
  • Immune deficiency disease1 test
  • Immunodeficiency 1042 tests
  • Immunodeficiency 31B1 test
  • Immunodeficiency 351 test
  • Immunodeficiency 512 tests
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency due to CD25 deficiency3 tests
  • Immunodeficiency due to defect in cd3-epsilon1 test
  • Immunodeficiency due to defect in CD3-gamma1 test
  • Immunodeficiency, common variable, 11 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 31 test
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, common variable, 61 test
  • Immunoglobulin A deficiency 21 test
  • Immunoglobulin M, level of1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Infantile convulsions and choreoathetosis2 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Inflammatory bowel disease 252 tests
  • Inflammatory bowel disease 282 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual disability1 test
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 22 tests
  • Intellectual disability, autosomal dominant 203 tests
  • Intellectual disability, autosomal dominant 52 tests
  • Intellectual disability, autosomal dominant 62 tests
  • Intellectual disability, X-linked 301 test
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked, with or without seizures, arx-related2 tests
  • Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Joubert syndrome 101 test
  • Juvenile myoclonic epilepsy1 test
  • Juvenile primary lateral sclerosis1 test
  • Kennedy disease1 test
  • Keratosis palmoplantaris striata 22 tests
  • Lafora disease1 test
  • Landau-Kleffner syndrome3 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lethal acantholytic epidermolysis bullosa2 tests
  • Lethal congenital glycogen storage disease of heart1 test
  • Lethal tight skin contracture syndrome2 tests
  • Linear nevus sebaceous syndrome1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 131 test
  • Long QT syndrome 32 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 92 tests
  • Low phospholipid associated cholelithiasis1 test
  • Lung carcinoma1 test
  • Majeed syndrome1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Marfan syndrome1 test
  • MASS syndrome1 test
  • Medulloblastoma1 test
  • Metachondromatosis1 test
  • Mevalonic aciduria1 test
  • Microcephaly, seizures, and developmental delay3 tests
  • Microvascular complications of diabetes, susceptibility to, 41 test
  • Migraine, familial hemiplegic, 13 tests
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 33 tests
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 51 test
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self-healing squamous epithelioma1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
  • MYH7-related skeletal myopathy2 tests
  • Myoclonic epilepsy, juvenile, susceptibility to, 31 test
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy 43 tests
  • Myofibrillar myopathy 52 tests
  • Myofibrillar myopathy 62 tests
  • Myopathy1 test
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myopathy, tubular aggregate, 11 test
  • Myosin storage myopathy2 tests
  • Naxos disease2 tests
  • Nemaline myopathy 12 tests
  • Nemaline myopathy 21 test
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Neonatal severe primary hyperparathyroidism1 test
  • Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 111 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
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia5 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 32 tests
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 62 tests
  • Noonan syndrome 71 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Obesity1 test
  • Obesity due to congenital leptin deficiency1 test
  • Obesity due to leptin receptor gene deficiency1 test
  • Oculodentodigital dysplasia1 test
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculotrichoanal syndrome1 test
  • Oligodontia-cancer predisposition syndrome1 test
  • Opioid dependence, susceptibility to, 11 test
  • Orofacial cleft 101 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofaciodigital syndrome I1 test
  • Pancreatic cancer, susceptibility to, 21 test
  • Pancreatic cancer, susceptibility to, 41 test
  • Paroxysmal extreme pain disorder2 tests
  • Partial androgen insensitivity syndrome1 test
  • Partington syndrome2 tests
  • Pelizaeus-Merzbacher disease1 test
  • Pheochromocytoma2 tests
  • PHGDH deficiency1 test
  • Pick disease1 test
  • Pierson syndrome1 test
  • Pitt-Hopkins syndrome1 test
  • Pitt-Hopkins-like syndrome 21 test
  • PMM2-congenital disorder of glycosylation1 test
  • Polyglandular autoimmune syndrome, type 12 tests
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia2 tests
  • Progressive familial heart block, type 1A2 tests
  • Progressive familial intrahepatic cholestasis type 12 tests
  • Progressive familial intrahepatic cholestasis type 22 tests
  • Progressive familial intrahepatic cholestasis type 32 tests
  • Progressive myoclonic epilepsy type 32 tests
  • Progressive myoclonic epilepsy type 61 test
  • Progressive supranuclear ophthalmoplegia1 test
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Proteasome-associated autoinflammatory syndrome 12 tests
  • PSAT deficiency2 tests
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
  • Pyridoxal phosphate-responsive seizures3 tests
  • Pyridoxine-dependent epilepsy3 tests
  • Pyropoikilocytosis, hereditary1 test
  • Renal cysts and diabetes syndrome1 test
  • Renal hypodysplasia/aplasia 11 test
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renpenning syndrome1 test
  • Reticular dysgenesis1 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant3 tests
  • Rh-null, regulator type1 test
  • Rienhoff syndrome2 tests
  • Right atrial isomerism1 test
  • Rippling muscle disease 22 tests
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked3 tests
  • Seizures, benign familial infantile, 22 tests
  • Seizures, benign familial infantile, 34 tests
  • Seizures, benign familial neonatal, 13 tests
  • Seizures, benign familial neonatal, 22 tests
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe myoclonic epilepsy in infancy4 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 31 test
  • Sick sinus syndrome 12 tests
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome2 tests
  • Somatotroph adenoma1 test
  • Spastic ataxia 51 test
  • Spheroid body myopathy2 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 63 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Sterile multifocal osteomyelitis with periostitis and pustulosis2 tests
  • Stiff skin syndrome1 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Supravalvar aortic stenosis2 tests
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Syndactyly type 31 test
  • Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
  • Syndromic X-linked intellectual disability 941 test
  • Syndromic X-linked intellectual disability Claes-Jensen type1 test
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Najm type1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • Testicular anomalies with or without congenital heart disease1 test
  • Thrombocythemia 11 test
  • Thyroid cancer, nonmedullary, 21 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Tooth agenesis, selective, 11 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Tremor, hereditary essential, 41 test
  • Tricho-dento-osseous syndrome1 test
  • Trigonocephaly 21 test
  • Type 1 diabetes mellitus 103 tests
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome type 2C1 test
  • VACTERL association, X-linked, with or without hydrocephalus1 test
  • Van der Woude syndrome 11 test
  • Velocardiofacial syndrome3 tests
  • Ventricular fibrillation, paroxysmal familial, type 12 tests
  • Ventricular septal defect 11 test
  • Ventricular septal defect 31 test
  • Von Hippel-Lindau syndrome1 test
  • Weill-Marchesani syndrome 2, dominant1 test
  • Wilms tumor 11 test
  • Wiskott-Aldrich syndrome1 test
  • Wolff-Parkinson-White pattern1 test
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 test
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome1 test
  • X-linked intellectual disability Cabezas type1 test
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome2 tests
  • X-linked lissencephaly with abnormal genitalia2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked lymphoproliferative disease due to XIAP deficiency2 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked parkinsonism-spasticity syndrome1 test
  • X-linked scapuloperoneal muscular dystrophy2 tests
  • X-linked severe combined immunodeficiency2 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
  • Custom Sequence Analysis
  • Carrier testing
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

  • ISO15189, Number: M001, Expiration date: 2021-08-01

Participation in external programs

Data exchange Programs

  • Locus-specific Databases
  • Mutation-specific Databases

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.