Prevention Genetics Logo
Test Code 16043

Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene

ACADVL

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant clinical features who have a clinical or suspected diagnosis of Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Individuals with elevated C14:1- and C14- acylcarnitines via newborn screening consistent with Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Reproductive partners of individuals with a known pathogenic variant in the ACADVL 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
for pricing.

Explore related tests

Questions? We can help.

Getting support has never been easier. Connect with our team for assistance with anything from test selection to interpreting results. Use the live chat button or visit our Contact us page.