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GTR Home > Laboratories > Children's Hospital Colorado Precision Diagnostics Laboratory

Children's Hospital Colorado Precision Diagnostics Laboratory

GTR Lab ID: 1038, Last updated:2024-03-06

Personnel

Conditions and tests

  • Baraitser-Winter syndrome 11 test
  • Baraitser-winter syndrome 21 test
  • Classic homocystinuria1 test
  • Cobalamin C disease1 test
  • Combined malonic and methylmalonic acidemia1 test
  • Complex vascular malformation with associated anomalies1 test
  • Congenital defect of folate absorption1 test
  • Developmental delay with or without intellectual impairment or behavioral abnormalities1 test
  • Epilepsy1 test
  • Global developmental delay with or without impaired intellectual development1 test
  • Hereditary intrinsic factor deficiency1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Homocystinuria, cblD type, variant 11 test
  • Homocystinuria, pyridoxine-nonresponsive1 test
  • Homocystinuria, pyridoxine-responsive1 test
  • Intellectual disability1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Methylcobalamin deficiency type cblE1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria, cblA type1 test
  • Methylmalonic aciduria, cblB type1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form1 test
  • Non-ketotic hyperglycinemia1 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 21 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome 81 test
  • Noonan syndrome with multiple lentigines1 test
  • Rare disease with autism1 test
  • Transcobalamin I deficiency1 test
  • Transcobalamin II deficiency1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Maternal cell contamination study (MCC)

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 06D0513583, Expiration date: 2025-08-20
  • CAP, Number: 2179701, Expiration date: 2024-04-23

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