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Test Code 8461

Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene

ACADS

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Short Chain Acyl-CoA Dehydrogenase Deficiency
  • Infants with elevated C4 (butyrylcarnitine) on newborn screening
  • Reproductive partners of individuals with a known pathogenic variant in the ACADS 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.

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