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Clinical Genetics

GTR Lab ID: 319965, Last updated:2015-12-08
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Personnel

Conditions and tests

  • Adie syndrome1 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 111 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 61 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophy, hereditary neuralgic1 test
  • Angiomatoid fibrous histiocytoma1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Charcot-Marie-Tooth disease and deafness1 test
  • Charcot-Marie-Tooth disease dominant intermediate 31 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2C1 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2F1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2K1 test
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal, type 2b1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A21 test
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B11 test
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type 4D1 test
  • Charcot-Marie-Tooth disease, type 4H1 test
  • Charcot-Marie-Tooth disease, type 4J1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital hypomyelinating neuropathy2 tests
  • Congenital muscular dystrophy, LMNA-related1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Dejerine-Sottas disease4 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Dilated cardiomyopathy 1A1 test
  • Distal hereditary motor neuronopathy type 2A1 test
  • Distal hereditary motor neuronopathy type 2B1 test
  • Distal hereditary motor neuronopathy type 52 tests
  • Distal spinal muscular atrophy, congenital nonprogressive1 test
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy1 test
  • Dystonia 11 test
  • Dystonia 6, torsion1 test
  • Encephalopathy, progressive, with or without lipodystrophy1 test
  • Familial partial lipodystrophy 21 test
  • Fatal familial insomnia1 test
  • FG syndrome 41 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Guillain-Barre syndrome, familial1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary sensory and autonomic neuropathy type IIA1 test
  • Huntington disease-like 11 test
  • Hutchinson-Gilford syndrome1 test
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia1 test
  • Jakob-Creutzfeldt disease1 test
  • Kuru, susceptibility to1 test
  • Lethal congenital contracture syndrome 51 test
  • Lethal tight skin contracture syndrome1 test
  • Limb-girdle muscular dystrophy, type 1B1 test
  • Malouf syndrome1 test
  • Mandibuloacral dysostosis1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
  • Metatrophic dysplasia1 test
  • Mononeuropathy of the median nerve, mild1 test
  • Myoclonic dystonia1 test
  • Myopathy, centronuclear, 11 test
  • Neuropathy hereditary sensory and autonomic type 11 test
  • Parastremmatic dwarfism1 test
  • Pontocerebellar hypoplasia type 11 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia, type 101 test
  • Pontocerebellar hypoplasia, type 1b1 test
  • Roussy-Lévy syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Severe X-linked myotubular myopathy1 test
  • Sodium serum level quantitative trait locus 11 test
  • Spastic paraplegia 171 test
  • Spinocerebellar ataxia autosomal recessive 11 test
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • Tremor, hereditary essential, 41 test
  • X-linked hereditary motor and sensory neuropathy1 test
  • Yunis Varon syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Prenatal testing
  • Carrier testing
  • Mutation Confirmation

List of certifications/licenses

Certifications

  • CCKL, Number: 152, Expiration date: 2018-06-30

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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