Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
Preferred molecular test to diagnose or rule out very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency following clinical and/or biochemical presentation. May also be used for carrier testing for the reproductive partner of an individual who is affected with or is a carrier of VLCAD deficiency. Also refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Carnitine Panel (0081110), and Organic Acids, Urine (0098389).
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Gene Tested: ACADVL (NM_000018)
|Component Test Code*||Component Chart Name||LOINC|
- exercise intolerance
- hypoketotic hypoglycemia
- long chain fatty acid
- sudden infant death
- VLCAD deficiency