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Test Code 16037

Elevated C5-DC Acylcarnitine via the GCDH Gene

GCDH

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of glutaric acidemia type I 
  • Individuals with an abnormal newborn screen result for glutarylcarnitine (C5-DC), suggestive of glutaric acidemia type I 
  • Individuals with reduced glutaryl-CoA dehydrogenase enzyme activity in fibroblasts or leukocytes 
  • Individuals with abnormal levels of glutaric acid and 3-hydroxyglutaric acid in blood and/or urine 
  • Reproductive partners of individuals with a known pathogenic variant in the GCDH gene
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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