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Counsyl

GTR Lab ID: 320494, Last updated:2017-03-28

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 31 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Achromatopsia1 test
  • Acute neuronopathic Gaucher's disease1 test
  • Alkaptonuria1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Andermann syndrome1 test
  • Angelman syndrome1 test
  • Aspartylglycosaminuria1 test
  • Ataxia with vitamin E deficiency1 test
  • Ataxia-telangiectasia syndrome1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 101 test
  • beta Thalassemia1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotinidase deficiency1 test
  • Bloom syndrome1 test
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 21 test
  • Breast-ovarian cancer, familial 31 test
  • Breast-ovarian cancer, familial 41 test
  • Carbohydrate-deficient glycoprotein syndrome type I1 test
  • Carnitine palmitoyltransferase I deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Ceroid lipofuscinosis neuronal 11 test
  • Ceroid lipofuscinosis neuronal 21 test
  • Ceroid lipofuscinosis neuronal 51 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Choroideremia1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Citrullinemia type I1 test
  • Cohen syndrome1 test
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital disorder of glycosylation type 1B1 test
  • Cystic fibrosis1 test
  • Deafness, autosomal recessive 1A1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • DiGeorge syndrome/velocardiofacial syndrome complex 21 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Double Y syndrome1 test
  • Factor V deficiency1 test
  • Familial colorectal cancer1 test
  • Familial dysautonomia1 test
  • Familial Mediterranean fever1 test
  • Familial multiple polyposis syndrome1 test
  • Fanconi anemia, complementation group C1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fragile X syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gaucher disease, perinatal lethal1 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease type 1A1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type V1 test
  • GRACILE syndrome1 test
  • Hb SS disease1 test
  • Hemoglobin H disease, nondeletional1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary cutaneous melanoma1 test
  • Hereditary diffuse gastric cancer1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hemochromatosis1 test
  • Hereditary mixed polyposis syndrome 11 test
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes1 test
  • Homocystinuria due to CBS deficiency1 test
  • Homocystinuria due to MTHFR deficiency1 test
  • Hurler syndrome1 test
  • Hypophosphatasia1 test
  • Inclusion body myopathy 21 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Joubert syndrome 21 test
  • Junctional epidermolysis bullosa gravis of Herlitz1 test
  • Juvenile neuronal ceroid lipofuscinosis1 test
  • Juvenile polyposis syndrome1 test
  • Juvenile retinoschisis1 test
  • Klinefelter's syndrome, XXY1 test
  • Li-Fraumeni syndrome1 test
  • Limb-girdle muscular dystrophy, type 2D1 test
  • Limb-girdle muscular dystrophy, type 2E1 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lynch syndrome1 test
  • Maple syrup urine disease type 1B1 test
  • Maple syrup urine disease, type 31 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Mucolipidosis type IV1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 21 test
  • Muscle eye brain disease1 test
  • MYH-associated polyposis1 test
  • Nemaline myopathy 21 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome, idiopathic, steroid-resistant1 test
  • Niemann-Pick disease type C11 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Osteochondrodysplasia1 test
  • Pendred's syndrome1 test
  • Persistent hyperinsulinemic hypoglycemia of infancy1 test
  • Peutz-Jeghers syndrome1 test
  • Phenylketonuria1 test
  • Pituitary hormone deficiency, combined 21 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Prader-Willi syndrome1 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pyknodysostosis1 test
  • Renal carnitine transport defect1 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Salla disease1 test
  • Segawa syndrome, autosomal recessive1 test
  • Sj√∂gren-Larsson syndrome1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spastic ataxia Charlevoix-Saguenay type1 test
  • Spinal muscular atrophy1 test
  • Spongy degeneration of central nervous system1 test
  • Subacute neuronopathic Gaucher's disease1 test
  • Tay-Sachs disease1 test
  • Thrombophilia1 test
  • Thrombophilia due to factor V Leiden1 test
  • Trisomy X syndrome1 test
  • Turner syndrome1 test
  • Tyrosinemia type I1 test
  • Usher syndrome, type 1F1 test
  • Usher syndrome, type 3A1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Von Hippel-Lindau1 test
  • Walker-Warburg congenital muscular dystrophy1 test
  • Wilson disease1 test
  • Zellweger syndrome1 test

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 05D1102604, Expiration date: 2018-08-07
  • CAP, Number: 7519776, Expiration date: 2018-03-23

Licenses

  • CA - California Department of Public Health CDPH, Number: CLF 00338555, Expiration date: 2017-07-19
  • FL - Florida Agency for Health Care Administration AHCA, Number: Cert: 93036, License: 800025804, Expiration date: 2018-06-13
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: Number: 1642, Control: 49719, Expiration date: 2018-06-30
  • NY - New York State Department of Health NYSDOH, Number: PFI:8535, Serial: LAP 69681, Expiration date: 2017-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: LID: 031837, Expiration date: 2017-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00702, Expiration date: 2017-12-30

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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