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GTR Home > Laboratories > PerkinElmer Genomics

PerkinElmer Genomics

GTR Lab ID: 167595, Last updated:2022-08-10


Conditions and tests

  • 3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
  • Angiokeratoma corporis diffusum1 test
  • Arginase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Autoinflammatory Autoimmune1 test
  • beta Thalassemia1 test
  • Biotinidase deficiency1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Citrullinemia type I1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital hypothyroidism1 test
  • COVID-192 tests
  • Cystic fibrosis1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Facioscapulohumeral muscular dystrophy 11 test
  • G6PD deficiency1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gaucher disease1 test
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease, type II1 test
  • GTP cyclohydrolase I deficiency1 test
  • Hb SS disease1 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary disease466 tests
  • Holocarboxylase synthetase deficiency1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1A1 test
  • Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Methylcrotonyl-CoA carboxylase deficiency1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Mucopolysaccharidosis1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Ornithine aminotransferase deficiency1 test
  • Phenylketonuria1 test
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
  • Propionic acidemia2 tests
  • Severe combined immunodeficiency disease1 test
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test

List of services

  • Newborn Screening

List of certifications/licenses


  • CLIAHelp, Number: 39D0673919, Expiration date: 2024-02-01
  • CAP, Number: 1286403, Expiration date: 2024-06-15
  • COLA, Number: 15860, Expiration date: 2023-05-20
  • JCAHO, Number: 372985, Expiration date: 2024-05-05


  • CA - California Department of Public Health CDPH, Number: CDS-00800147, Expiration date: 2023-03-28
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1072, Effective date: 2019-08-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: 4733, Expiration date: 2023-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 022936A, Expiration date: 2023-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00517, Expiration date: 2023-12-30

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.