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Test Code 16041

Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene

CPT1A

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of carnitine palmitoyltransferase 1A deficiency
  • Individuals with elevated C0/(C16+C18) acylcarnitine ratio on newborn screening
  • Reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the CPT1A 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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