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Sheffield Diagnostic Genetics Service

GTR Lab ID: 56525, Last updated:2017-01-09

Personnel

Conditions and tests

  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 test
  • Androgen insensitivity syndrome, partial1 test
  • Androgen resistance syndrome1 test
  • Antithrombin III deficiency1 test
  • Arginase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Azorean disease1 test
  • Bernard Soulier syndrome1 test
  • Bernard-Soulier syndrome type C1 test
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • Bernard-Soulier syndrome, type B1 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Bulbo-spinal atrophy X-linked1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile1 test
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Childhood hypophosphatasia1 test
  • Citrullinemia type I1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital cystic disease of liver2 tests
  • Congenital hyperammonemia, type I1 test
  • Crigler-Najjar syndrome1 test
  • Cystic fibrosis1 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Dentatorubral pallidoluysian atrophy1 test
  • Diamond-Blackfan anemia1 test
  • Disorder of fatty acid metabolism2 tests
  • Disorder of the urea cycle metabolism1 test
  • Dystonia 11 test
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, procollagen proteinase deficient1 test
  • Ehlers-Danlos syndrome, type 31 test
  • Ehlers-Danlos syndrome, type 41 test
  • Episodic ataxia type 11 test
  • Episodic ataxia type 21 test
  • Factor xiii, a subunit, deficiency of1 test
  • Factor xiii, b subunit, deficiency of1 test
  • Familial adenomatous polyposis 11 test
  • Familial hemiplegic migraine type 11 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Fructose-biphosphatase deficiency1 test
  • Genetic predisposition1 test
  • Gilbert's syndrome1 test
  • Glanzmann thrombasthenia1 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric aciduria, type 11 test
  • Glutaric aciduria, type 21 test
  • Glycogen storage disease4 tests
  • Glycogen storage disease type 1A1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • GTP cyclohydrolase I deficiency1 test
  • Hemophilia1 test
  • Hemophilia B Brandenburg1 test
  • Hemophilia B Leyden1 test
  • Hemophilia b(m)1 test
  • Hereditary breast and ovarian cancer syndrome1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Huntington's chorea1 test
  • Hypoglycemia with deficiency of glycogen synthetase in the liver1 test
  • Hypophosphatasia1 test
  • Infantile cortical hyperostosis1 test
  • Infantile hypophosphatasia1 test
  • Li-Fraumeni syndrome1 test
  • Lynch syndrome1 test
  • Metabolic myopathy1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteoporosis with pseudoglioma1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum2 tests
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease, adult type1 test
  • Porencephaly 11 test
  • Porencephaly 21 test
  • Postmenopausal osteoporosis1 test
  • Protein S deficiency1 test
  • Pseudoxanthoma elasticum1 test
  • Segawa syndrome, autosomal recessive1 test
  • Spastic paraplegia 31 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 121 test
  • Spinocerebellar ataxia 171 test
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia 71 test
  • Steinert myotonic dystrophy syndrome1 test
  • Thrombophilia1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • von Willebrand disease type 2M1 test
  • von Willebrand disease type 2N1 test
  • Von Willebrand disease, recessive form1 test
  • von Willebrand disease, type 2a1 test
  • von Willebrand disease, type 2b1 test
  • von Willebrand disorder1 test
  • Warfarin response1 test
  • Wilson disease1 test

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • EMQN, Number: 0228, Expiration date: 2013-06-22

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