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GTR Home > Laboratories > Health in Code

Health in Code

GTR Lab ID: 320229, Last updated:2016-04-27
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Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 21 test
  • Acromicric dysplasia3 tests
  • Adams-Oliver syndrome 52 tests
  • Andersen Tawil syndrome1 test
  • Aneurysm-osteoarthritis syndrome2 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 82 tests
  • Aortic valve disease 12 tests
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
  • Arrhythmogenic right ventricular cardiomyopathy5 tests
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 102 tests
  • Arrhythmogenic right ventricular dysplasia 112 tests
  • Arrhythmogenic right ventricular dysplasia 122 tests
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arrhythmogenic right ventricular dysplasia 22 tests
  • Arrhythmogenic right ventricular dysplasia 53 tests
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arterial tortuosity syndrome2 tests
  • Atrial fibrillation1 test
  • Atrial fibrillation, familial, 11 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 91 test
  • Atrial septal defect 51 test
  • Atrial septal defect 72 tests
  • Atrioventricular septal defect, susceptibility to, 21 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
  • Becker muscular dystrophy1 test
  • Blepharophimosis - intellectual disability syndrome, MKB type1 test
  • Brugada syndrome2 tests
  • Brugada syndrome 13 tests
  • Brugada syndrome 51 test
  • Cardiac arrhythmia5 tests
  • Cardiac valvular dysplasia, X-linked2 tests
  • Cardiofaciocutaneous syndrome 12 tests
  • Cardiofaciocutaneous syndrome 23 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 31 test
  • Carpal tunnel syndrome1 test
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Catecholaminergic polymorphic ventricular tachycardia 13 tests
  • Catecholaminergic polymorphic ventricular tachycardia 22 tests
  • CBL-related disorder1 test
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Chylomicron retention disease1 test
  • CIDEC-related familial partial lipodystrophy1 test
  • Classic homocystinuria2 tests
  • Conduction disorder of the heart2 tests
  • Congenital aneurysm of ascending aorta1 test
  • Congenital contractural arachnodactyly2 tests
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital generalized lipodystrophy type 31 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital heart disease2 tests
  • Congenital muscular dystrophy due to LMNA mutation2 tests
  • Conotruncal heart malformations2 tests
  • Costello syndrome4 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Desmin-related myofibrillar myopathy2 tests
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1D1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1I2 tests
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1P2 tests
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
  • Distal myopathy with posterior leg and anterior hand involvement1 test
  • Distal myopathy, Tateyama type1 test
  • Doyne honeycomb retinal dystrophy1 test
  • Duchenne muscular dystrophy1 test
  • Early repolarization associated with ventricular fibrillation1 test
  • Early-onset myopathy with fatal cardiomyopathy1 test
  • Ectopia lentis 1, isolated, autosomal dominant3 tests
  • Ectopia lentis 2, isolated, autosomal recessive2 tests
  • Ectopia lentis et pupillae2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type2 tests
  • Ehlers-Danlos syndrome, cardiac valvular type2 tests
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, classic type, 11 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Elevated circulating creatine kinase concentration1 test
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Epidermal nevus1 test
  • Fabry disease2 tests
  • Familial amyloid neuropathy2 tests
  • Familial hypobetalipoproteinemia1 test
  • Familial partial lipodystrophy1 test
  • Familial partial lipodystrophy, Dunnigan type3 tests
  • Familial restrictive cardiomyopathy4 tests
  • FG syndrome 11 test
  • FG syndrome 22 tests
  • Fibromatosis, gingival, 12 tests
  • Fish-eye disease1 test
  • Frontometaphyseal dysplasia 12 tests
  • Geleophysic dysplasia 23 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Geroderma osteodysplastica1 test
  • Glycogen storage disease, type II3 tests
  • Heart-hand syndrome, Slovenian type2 tests
  • Heterotopia, periventricular, X-linked dominant2 tests
  • Hutchinson-Gilford syndrome2 tests
  • Hypercholesterolemia, familial, 15 tests
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypertriglyceridemia 11 test
  • Hypertrophic cardiomyopathy 14 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 111 test
  • Hypertrophic cardiomyopathy 131 test
  • Hypertrophic cardiomyopathy 182 tests
  • Hypertrophic cardiomyopathy 21 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 41 test
  • Hypertrophic cardiomyopathy 61 test
  • Hypertrophic cardiomyopathy 71 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 91 test
  • Hypoplastic left heart syndrome 22 tests
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Insulin-resistant diabetes mellitus1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Keratosis palmoplantaris striata 22 tests
  • Large congenital melanocytic nevus1 test
  • Larsen-like syndrome, B3GAT3 type1 test
  • Left ventricular noncompaction5 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 101 test
  • Legius syndrome1 test
  • LEOPARD syndrome 14 tests
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 32 tests
  • Lethal acantholytic epidermolysis bullosa2 tests
  • Lethal congenital glycogen storage disease of heart1 test
  • Lethal tight skin contracture syndrome3 tests
  • Linear nevus sebaceous syndrome4 tests
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 42 tests
  • Long QT syndrome8 tests
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 21 test
  • Long QT syndrome 32 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Macular degeneration, early-onset2 tests
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Marfan syndrome3 tests
  • MASS syndrome3 tests
  • Maturity-onset diabetes of the young type 21 test
  • Melnick-Needles syndrome2 tests
  • Metachondromatosis2 tests
  • Methylcobalamin deficiency type cblE1 test
  • Moyamoya disease 53 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • MYH7-related skeletal myopathy1 test
  • Myhre syndrome2 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 51 test
  • Myopathy2 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myosin storage myopathy1 test
  • Naxos disease2 tests
  • Neurocutaneous melanocytosis1 test
  • Neurogenic scapuloperoneal syndrome, Kaeser type2 tests
  • Noonan syndrome 14 tests
  • Noonan syndrome 33 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 72 tests
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Osteogenesis imperfecta type I2 tests
  • Osteogenesis imperfecta type III2 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form2 tests
  • Osteogenesis imperfecta, perinatal lethal2 tests
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • PLIN1-related familial partial lipodystrophy1 test
  • PPARG-related familial partial lipodystrophy1 test
  • Primary dilated cardiomyopathy17 tests
  • Primary familial hypertrophic cardiomyopathy8 tests
  • Progressive familial heart block, type 1A2 tests
  • Pulmonary hypertension, primary, 14 tests
  • Pulmonary venoocclusive disease 11 test
  • RASopathy1 test
  • Rienhoff syndrome3 tests
  • Rippling muscle disease 21 test
  • Short QT syndrome2 tests
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 31 test
  • Shprintzen-Goldberg syndrome2 tests
  • Sick sinus syndrome 12 tests
  • Stiff skin syndrome1 test
  • Sudden cardiac death3 tests
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Supravalvar aortic stenosis2 tests
  • Syndromic X-linked intellectual disability Raymond type1 test
  • Tangier disease1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Terminal osseous dysplasia-pigmentary defects syndrome2 tests
  • Tetralogy of Fallot2 tests
  • Tibial muscular dystrophy1 test
  • Timothy syndrome1 test
  • Ventricular fibrillation, paroxysmal familial, type 12 tests
  • Ventricular septal defect 32 tests
  • Weill-Marchesani syndrome 2, dominant3 tests
  • Wolff-Parkinson-White pattern1 test
  • Woolly hair-skin fragility syndrome2 tests
  • Wrinkly skin syndrome1 test
  • X-linked intellectual disability with marfanoid habitus1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Data Storage and Backup
  • Mutation Confirmation
  • Result interpretation
  • Targeted exome sequencing of inherited cardiomyopathies

List of certifications/licenses

Certifications

  • EMQN, Number: DNA-Seq Full, Expiration date: 2017-01-05
  • EMQN, Number: NextGen DNA Sequencing, Expiration date: 2017-01-26
  • UNE-EN ISO 14001, Number: ES064285-1, Expiration date: 2018-05-13
  • UNE-EN ISO 9001, Number: ES0645001, Expiration date: 2018-05-13

Licenses

  • State License, Number: C-15-002226, Expiration date: 2020-01-14

Participation in external programs

Standardization programs

  • Other

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