GTR Home > Laboratories > Exeter Molecular Genetics Laboratory

Exeter Molecular Genetics Laboratory

GTR Lab ID: 229552, Last updated:2015-04-07

Personnel

Conditions and tests

  • Aarskog syndrome1 test
  • Acrodysostosis 2, with or without hormone resistance1 test
  • Alagille syndrome 12 tests
  • Alagille syndrome 22 tests
  • Alveolar capillary dysplasia with misalignment of pulmonary veins1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1 test
  • Aortic valve disorder1 test
  • Arterial calcification of infancy3 tests
  • Athabaskan brainstem dysgenesis1 test
  • Autosomal dominant hypophosphatemic rickets1 test
  • Autosomal recessive hypophosphatemic bone disease1 test
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Carney complex, type 12 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Chondrodysplasia punctata 1, X-linked recessive1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Cone-rod dystrophy 61 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital glucose-galactose malabsorption1 test
  • Cystic fibrosis1 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis2 tests
  • Diabetes-deafness syndrome maternally transmitted1 test
  • Dilated cardiomyopathy 1A1 test
  • Duane syndrome type 11 test
  • Duane-radial ray syndrome1 test
  • Familial hypoplastic, glomerulocystic kidney1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial porencephaly2 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi-Bickel syndrome1 test
  • Feingold syndrome 11 test
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate1 test
  • Hajdu-Cheney syndrome1 test
  • Hemochromatosis type 11 test
  • Hepatic adenomas, familial1 test
  • Hirschsprung disease 11 test
  • Hyperinsulinemic hypoglycemia familial 31 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperparathyroidism 11 test
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Islet cell hyperplasia2 tests
  • Lethal tight skin contracture syndrome1 test
  • Lipodystrophy, congenital generalized, type 31 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lipodystrophy, familial partial, type 21 test
  • Lipodystrophy, familial partial, type 31 test
  • Mandibuloacral dysostosis1 test
  • Maturity onset diabetes mellitus in young5 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Multiple endocrine neoplasia, type 12 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple endocrine neoplasia, type 41 test
  • Nestor-Guillermo progeria syndrome1 test
  • Pheochromocytoma8 tests
  • Pseudohypoaldosteronism, type 21 test
  • Pseudoxanthoma elasticum1 test
  • Pyridoxine-dependent epilepsy1 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Somatotroph adenoma1 test
  • Spondylocostal dysostosis 11 test
  • Spondylocostal dysostosis 21 test
  • Spondylocostal dysostosis 31 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tumoral calcinosis, familial, hyperphosphatemic2 tests
  • Werner syndrome1 test
  • Wolcott-Rallison dysplasia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses

Certifications

  • CPA, Number: 2645, Expiration date: 2014-12-31

Participation in external programs

Standardization programs

  • Other

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