GTR Home > Laboratories > Genome Diagnostics Laboratory

Genome Diagnostics Laboratory

GTR Lab ID: 274978
Last updated: 2014-05-09

General information

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Personnel

Conditions and tests

  • 2-methyl-3-hydroxybutyric aciduria1 test
  • 3-Methylglutaconic aciduria type 22 tests
  • 46,XY sex reversal, type 31 test
  • AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA31 test
  • AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA41 test
  • AMELOGENESIS IMPERFECTA, TYPE IE1 test
  • AMELOGENESIS IMPERFECTA, TYPE IV1 test
  • AML - Acute myeloid leukemia1 test
  • ANKRD1-related dilated cardiomyopathy1 test
  • ATR-X syndrome1 test
  • AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV2 tests
  • Aarskog syndrome1 test
  • Acne inversa, familial, 21 test
  • Acquired hemoglobin H disease1 test
  • Acromicric dysplasia1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult onset ataxia with oculomotor apraxia1 test
  • Adult 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 11 test
  • Alpha-B crystallinopathy2 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood1 test
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
  • Amelogenesis imperfecta and gingival fibromatosis syndrome1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amelogenesis imperfecta, hypomaturation type, IIA11 test
  • Amelogenesis imperfecta, type IC1 test
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 171 test
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 22 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
  • Angelman syndrome2 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 13 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 22 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 83 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 93 tests
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita distal type 11 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 7 with or without atrioventricular conduction defects1 test
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 41 test
  • Atrioventricular septal defect and common atrioventricular junction1 test
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical hemolytic-uremic syndrome 31 test
  • Autism 151 test
  • Autism, susceptibility to, X-linked 32 tests
  • Autoimmune disease, syndromic multisystem1 test
  • Autoimmune lymphoproliferative syndrome3 tests
  • Autoimmune lymphoproliferative syndrome, type 22 tests
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
  • Azorean disease1 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
  • Barakat syndrome1 test
  • Basal ganglia disease, biotin-responsive1 test
  • Becker muscular dystrophy1 test
  • Benign Rolandic epilepsy1 test
  • Benign familial neonatal seizures 13 tests
  • Benign familial neonatal seizures 22 tests
  • Benign familial neonatal-infantile seizures4 tests
  • Benign recurrent intrahepatic cholestasis 11 test
  • Benign recurrent intrahepatic cholestasis 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bifid nose with or without anorectal and renal anomalies1 test
  • Bilateral right-sidedness sequence1 test
  • Biotinidase deficiency1 test
  • Blau syndrome1 test
  • Body mass index quantitative trait locus 121 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Branchiootic syndrome1 test
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 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
  • Bulbo-spinal atrophy X-linked1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL1 test
  • Candidiasis, familial, 21 test
  • Candidiasis, familial, 52 tests
  • Candidiasis, familial, 62 tests
  • Candidiasis, familial, 72 tests
  • Carbohydrate-deficient glycoprotein syndrome type I1 test
  • Carcinoma of pancreas2 tests
  • Cardiac arrhythmia, ankyrin B-related1 test
  • Cardiac conduction abnormalities1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy2 tests
  • Cardiomyopathy dilated with woolly hair and keratoderma2 tests
  • Cardiomyopathy, dilated, 2b1 test
  • Carnitine palmitoyltransferase II deficiency, infantile1 test
  • Carpal tunnel syndrome1 test
  • Caspase-8 deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • Cd8 deficiency, familial1 test
  • Central core disease1 test
  • Cerebral cavernous malformation1 test
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral folate deficiency1 test
  • Ceroid lipofuscinosis neuronal 11 test
  • Ceroid lipofuscinosis neuronal 101 test
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant1 test
  • Ceroid lipofuscinosis neuronal 51 test
  • Ceroid lipofuscinosis neuronal 61 test
  • Ceroid lipofuscinosis neuronal 71 test
  • Ceroid lipofuscinosis neuronal 81 test
  • Ceroid lipofuscinosis, neuronal, 111 test
  • Ceroid lipofuscinosis, neuronal, 21 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Chilblain lupus 21 test
  • Chilblain lupus erythematosus1 test
  • Cholecystitis1 test
  • Cholestasis of pregnancy1 test
  • Cholestasis, intrahepatic, of pregnancy 31 test
  • Choreoathetosis/spasticity, episodic4 tests
  • Christianson syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Ch├ędiak-Higashi syndrome1 test
  • Cleft palate X-linked1 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Combined cellular and humoral immune defects with granulomas1 test
  • Combined immunodeficiency, X-linked1 test
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 21 test
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 8, with autoimmunity1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital heart disease1 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy, LMNA-related2 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Conotruncal heart malformations1 test
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome1 test
  • Craniometaphyseal dysplasia, autosomal recessive type1 test
  • Creatine deficiency, X-linked1 test
  • Creatine phosphokinase, elevated serum2 tests
  • Cryptophthalmos syndrome3 tests
  • Cutis laxa, autosomal dominant2 tests
  • Danon disease1 test
  • Deafness, autosomal dominant 101 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of phosphoserine phosphatase2 tests
  • DiGeorge sequence1 test
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, insulin-dependent, 103 tests
  • Digitorenocerebral syndrome3 tests
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC1 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 1N1 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 3B1 test
  • Disorder of cardiovascular system1 test
  • Distal myopathy, Tateyama type2 tests
  • Duchenne muscular dystrophy1 test
  • Dystonia 102 tests
  • Dystonia 184 tests
  • Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
  • Early infantile epileptic encephalopathy 103 tests
  • Early infantile epileptic encephalopathy 113 tests
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 131 test
  • Early infantile epileptic encephalopathy 142 tests
  • Early infantile epileptic encephalopathy 163 tests
  • Early infantile epileptic encephalopathy 22 tests
  • Early infantile epileptic encephalopathy 43 tests
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 72 tests
  • Early infantile epileptic encephalopathy 82 tests
  • Early infantile epileptic encephalopathy 93 tests
  • Early myoclonic encephalopathy2 tests
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 11 test
  • Ehlers-Danlos syndrome, type 21 test
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 41 test
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
  • Encephalopathy, neonatal severe, due to MECP2 mutations2 tests
  • Epidermal nevus syndrome1 test
  • Epidermolysis bullosa, lethal acantholytic2 tests
  • Epilepsy juvenile absence1 test
  • Epilepsy with grand mal seizures on awakening2 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 51 test
  • Epilepsy, childhood absence 61 test
  • Epilepsy, idiopathic generalized 102 tests
  • Epilepsy, idiopathic generalized 81 test
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 124 tests
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, lateral temporal lobe, autosomal dominant1 test
  • Epilepsy, nocturnal frontal lobe, 52 tests
  • Epilepsy, nocturnal frontal lobe, type 12 tests
  • Epilepsy, nocturnal frontal lobe, type 32 tests
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 32 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, progressive myoclonic 51 test
  • Epilepsy, progressive myoclonic 61 test
  • Epileptic encephalopathy, childhood-onset1 test
  • Epileptic encephalopathy, early infantile, 13 tests
  • Episodic ataxia type 11 test
  • Episodic ataxia type 23 tests
  • Episodic ataxia, type 51 test
  • Essential thrombocythemia1 test
  • FG syndrome1 test
  • FG syndrome 41 test
  • Fabry's disease1 test
  • Familial Mediterranean fever2 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial benign hypercalcemia1 test
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold urticaria2 tests
  • Familial febrile seizures 81 test
  • Familial hemiplegic migraine type 13 tests
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 33 tests
  • Familial hypertrophic cardiomyopathy 12 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 112 tests
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 142 tests
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 183 tests
  • Familial hypertrophic cardiomyopathy 191 test
  • Familial hypertrophic cardiomyopathy 21 test
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 32 tests
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial hypoplastic, glomerulocystic kidney1 test
  • Familial mediterranean fever, autosomal dominant1 test
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial restrictive cardiomyopathy 31 test
  • Fanconi anemia, complementation group D11 test
  • Farber's lipogranulomatosis1 test
  • Febrile seizures, familial, 41 test
  • Fibrous dysplasia of jaw1 test
  • Focal epilepsy with speech disorder with or without mental retardation3 tests
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Friedreich ataxia 11 test
  • Frontotemporal Dementia, Chromosome 3-Linked1 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
  • Frontotemporal dementia, ubiquitin-positive1 test
  • Fukuyama congenital muscular dystrophy1 test
  • Geleophysic dysplasia 21 test
  • Generalized epilepsy and paroxysmal dyskinesia1 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
  • Glioma susceptibility 31 test
  • Glucose transporter type 1 deficiency syndrome4 tests
  • Glycogen storage disease of heart, lethal congenital1 test
  • Graft-versus-host disease, susceptibility to1 test
  • Griscelli syndrome type 21 test
  • Growth hormone insensitivity with immunodeficiency1 test
  • HYPERALDOSTERONISM, FAMILIAL, TYPE III1 test
  • Heart-hand syndrome, Slovenian type2 tests
  • Hemophagocytic lymphohistiocytosis, familial, 22 tests
  • Hemophagocytic lymphohistiocytosis, familial, 32 tests
  • Hemophagocytic lymphohistiocytosis, familial, 42 tests
  • Hemophagocytic lymphohistiocytosis, familial, 52 tests
  • Hereditary gingival fibromatosis1 test
  • Hereditary nonpolyposis colorectal cancer type 61 test
  • Hereditary pyropoikilocytosis1 test
  • Hermansky Pudlak syndrome 21 test
  • Herpes simplex encephalitis 21 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, X-linked1 test
  • Hidradenitis suppurativa, familial1 test
  • Hirschsprung disease 31 test
  • Histiocytic medullary reticulosis1 test
  • Holt-Oram syndrome2 tests
  • Homocysteinemia due to MTHFR deficiency1 test
  • Homocystinuria due to CBS deficiency1 test
  • Hutchinson-Gilford syndrome2 tests
  • Hydatidiform mole1 test
  • Hyperekplexia 21 test
  • Hyperekplexia hereditary1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
  • Hyperimmunoglobulin E syndrome2 tests
  • Hyperparathyroidism, neonatal severe primary1 test
  • Hypertrichotic osteochondrodysplasia2 tests
  • Hypocalcemia, autosomal dominant 11 test
  • Hypoparathyroidism retardation dysmorphism syndrome1 test
  • Hypoplastic left heart syndrome1 test
  • Hypoplastic left heart syndrome 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Idiopathic generalized epilepsy1 test
  • Immune deficiency disease1 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 21 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in CD3-gamma1 test
  • Immunodeficiency due to defect in cd3-epsilon1 test
  • Immunodeficiency with hyper IgM type 13 tests
  • Immunodeficiency with hyper IgM type 22 tests
  • Immunodeficiency with hyper IgM type 32 tests
  • Immunodeficiency with hyper IgM type 51 test
  • Immunoglobulin A deficiency 21 test
  • Immunoglobulin m, level of1 test
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia1 test
  • Indifference to pain, congenital, autosomal recessive2 tests
  • Infantile convulsions and paroxysmal choreoathetosis, familial2 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
  • Inflammatory bowel disease 25, autosomal recessive2 tests
  • Inflammatory bowel disease 28, autosomal recessive2 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual functioning disability1 test
  • Interleukin 2 receptor, alpha, deficiency of3 tests
  • Jankovic Rivera syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Joubert syndrome 101 test
  • Juvenile myoclonic epilepsy1 test
  • Juvenile neuronal ceroid lipofuscinosis1 test
  • Juvenile primary lateral sclerosis1 test
  • KERATOSIS PALMOPLANTARIS STRIATA II2 tests
  • Kenny-Caffey syndrome type 11 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lafora disease1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 61 test
  • Leptin receptor deficiency2 tests
  • Lethal tight skin contracture syndrome2 tests
  • Lig4 syndrome1 test
  • Limb-girdle muscular dystrophy, type 1A2 tests
  • Limb-girdle muscular dystrophy, type 1B2 tests
  • Limb-girdle muscular dystrophy, type 1C2 tests
  • Limb-girdle muscular dystrophy, type 2F1 test
  • Limb-girdle muscular dystrophy, type 2G1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
  • Lipodystrophy, familial partial, type 22 tests
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome type 1B1 test
  • Loeys-Dietz syndrome type 2A1 test
  • Loeys-Dietz syndrome type 2B1 test
  • Loeys-Dietz syndrome type 31 test
  • Loeys-Dietz syndrome, type 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
  • Lung cancer1 test
  • MASS syndrome1 test
  • MECP2 duplication syndrome2 tests
  • Majeed syndrome1 test
  • Malignant hyperthermia1 test
  • Malignant lymphoma, non-Hodgkin1 test
  • Malouf syndrome2 tests
  • Mandibuloacral dysostosis2 tests
  • Marfan's syndrome1 test
  • Marles Greenberg Persaud syndrome1 test
  • Medulloblastoma1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
  • Mental retardation, X-linked 721 test
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked, syndromic 101 test
  • Mental retardation, X-linked, syndromic 132 tests
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mental retardation, X-linked, syndromic, wu type1 test
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 22 tests
  • Mental retardation, autosomal dominant 52 tests
  • Mental retardation, autosomal dominant 62 tests
  • Mental retardation, autosomal dominant 71 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
  • Mental retardation-hypotonic facies syndrome X-linked, 11 test
  • Metachondromatosis1 test
  • Mevalonic aciduria1 test
  • Microvascular complications of diabetes 41 test
  • Minicore myopathy with external ophthalmoplegia1 test
  • Molybdenum cofactor deficiency, complementation group C1 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 51 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple self healing squamous epithelioma1 test
  • Multisystemic smooth muscle dysfunction syndrome1 test
  • Muscular dystrophy, limb-girdle, type 2r3 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
  • Myoclonic epilepsy, familial infantile3 tests
  • Myoclonic epilepsy, juvenile 31 test
  • Myofibrillar myopathy 13 tests
  • Myofibrillar myopathy, BAG3-related2 tests
  • Myofibrillar myopathy, ZASP-related3 tests
  • Myofibrillar myopathy, filamin C-related2 tests
  • Myopathy1 test
  • Myopathy with tubular aggregates1 test
  • Myopathy, distal, 12 tests
  • Myopathy, distal, 42 tests
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, myosin storage2 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Myotilinopathy2 tests
  • Nakajo syndrome2 tests
  • Naxos disease2 tests
  • Nemaline myopathy 12 tests
  • Nemaline myopathy 21 test
  • Nemaline myopathy 32 tests
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 52 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Niemann-Pick disease type C11 test
  • Niemann-Pick disease type C21 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 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 or without juvenile myelomonocytic leukemia1 test
  • Noonan-like syndrome with loose anagen hair1 test
  • Obesity2 tests
  • Obesity, severe, due to leptin deficiency2 tests
  • Oculodentodigital dysplasia1 test
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome1 test
  • Ohdo syndrome, X-linked1 test
  • Oligodontia-colorectal cancer syndrome1 test
  • Opioid dependence 11 test
  • Oral-facial-digital syndrome1 test
  • Orofacial cleft 101 test
  • Orofacial cleft 6, susceptibility to1 test
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
  • Pancreatic cancer 21 test
  • Pancreatic cancer 41 test
  • Parkinson-dementia syndrome1 test
  • Parkinsonism with spasticity, X-linked1 test
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal familial ventricular fibrillation2 tests
  • Partial congenital absence of teeth1 test
  • Partington X-linked mental retardation syndrome2 tests
  • Pelizaeus-Merzbacher disease1 test
  • Pheochromocytoma2 tests
  • Phosphoglycerate dehydrogenase deficiency1 test
  • Phosphoserine aminotransferase deficiency2 tests
  • Pick's disease1 test
  • Pierson syndrome1 test
  • Pitt-Hopkins syndrome1 test
  • Pitt-Hopkins-like syndrome 21 test
  • Polyglandular autoimmune syndrome, type 12 tests
  • Porokeratosis, disseminated superficial actinic 11 test
  • Posterior polar cataract type 22 tests
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia2 tests
  • Progressive familial heart block type 1A2 tests
  • Progressive familial intrahepatic cholestasis 22 tests
  • Progressive familial intrahepatic cholestasis 32 tests
  • Progressive intrahepatic cholestasis2 tests
  • Progressive myoclonus epilepsy with ataxia2 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Proopiomelanocortin deficiency1 test
  • Proprotein convertase 1/3 deficiency1 test
  • Proud Levine Carpenter syndrome2 tests
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pustular psoriasis, generalized2 tests
  • Pyogenic arthritis, pyoderma gangrenosum and acne2 tests
  • Pyridoxal 5'-phosphate-dependent epilepsy3 tests
  • Pyridoxine-dependent epilepsy3 tests
  • Reifenstein syndrome1 test
  • Renal adysplasia1 test
  • Renal tubular acidosis, distal, autosomal dominant1 test
  • Renal tubular acidosis, distal, with hemolytic anemia1 test
  • Renpenning syndrome 11 test
  • Reticular dysgenesis1 test
  • Rett syndrome, congenital variant3 tests
  • Rett's disorder2 tests
  • Rh-null, regulator type1 test
  • Rienhoff syndrome2 tests
  • Rippling muscle disease2 tests
  • Sarcoidosis, early-onset1 test
  • Scapuloperoneal myopathy, MYH7-related2 tests
  • Scapuloperoneal syndrome, neurogenic, Kaeser type3 tests
  • Schizophrenia 171 test
  • SeSAME syndrome1 test
  • Seizures, benign familial infantile, 22 tests
  • Severe combined immunodeficiency due to ADA deficiency1 test
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
  • Severe combined immunodeficiency with sensitivity to ionizing radiation1 test
  • Severe combined immunodeficiency, atypical2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2 tests
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive3 tests
  • Severe myoclonic epilepsy in infancy4 tests
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Shprintzen syndrome3 tests
  • Sick sinus syndrome 1, autosomal recessive2 tests
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sick sinus syndrome 3, susceptibility to2 tests
  • Simpson-Golabi-Behmel syndrome1 test
  • Simpson-Golabi-Behmel syndrome, type 21 test
  • Situs inversus1 test
  • Skin fragility woolly hair syndrome2 tests
  • Snyder Robinson syndrome1 test
  • Somatotroph adenoma1 test
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic paraplegia 21 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Spheroid body myopathy2 tests
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 131 test
  • Spinocerebellar ataxia 141 test
  • Spinocerebellar ataxia 171 test
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 231 test
  • Spinocerebellar ataxia 271 test
  • Spinocerebellar ataxia 281 test
  • Spinocerebellar ataxia 63 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia autosomal recessive 12 tests
  • Stiff skin syndrome1 test
  • Sudden infant death syndrome2 tests
  • Supravalvar aortic stenosis2 tests
  • Syndactyly type 31 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Testicular anomalies with or without congenital heart disease1 test
  • Thyroid cancer, follicular1 test
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 41 test
  • Transposition of the great arteries, dextro-looped 21 test
  • Transposition of the great arteries, dextro-looped 31 test
  • Tremor, hereditary essential, 41 test
  • Tricho-dento-osseous syndrome1 test
  • Trigonocephaly 21 test
  • Tyrosine kinase 2 deficiency1 test
  • Unverricht-Lundborg syndrome1 test
  • Usher syndrome, type 2C1 test
  • VACTERL association with hydrocephaly, X-linked1 test
  • Van der Woude syndrome1 test
  • Vasculopathy, retinal, with cerebral leukodystrophy1 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
  • Von Hippel-Lindau syndrome1 test
  • Weill-Marchesani syndrome 21 test
  • Wilms' tumor1 test
  • Wiskott-Aldrich syndrome1 test
  • Wolff-Parkinson-White pattern1 test
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked dominant scapuloperoneal myopathy2 tests
  • X-linked hypospadias 11 test
  • X-linked lissencephaly1 test
  • X-linked lissencephaly 22 tests
  • X-linked lymphoproliferative syndrome 11 test
  • X-linked lymphoproliferative syndrome 22 tests
  • X-linked mental retardation 171 test
  • X-linked mental retardation 301 test
  • X-linked mental retardation with marfanoid habitus syndrome1 test
  • X-linked mental retardation with short stature, hypogonadism and abnormal gait1 test
  • X-linked mental retardation, syndromic, Claes-Jensen type1 test
  • X-linked mental retardation, with or without seizures, ARX-related2 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked rolandic epilepsy with mental retardation and speech dyspraxia3 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: 2016-12-01

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.

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