Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
Ordering Recommendation
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).
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Gene Tested: ACADVL (NM_000018)
Hotline History
Hotline History
CPT Codes
81406; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3004420 | VLCAD Specimen | 66746-9 |
3004421 | VLCAD Interp | 73735-3 |
Aliases
- exercise intolerance
- hypoketotic hypoglycemia
- long chain fatty acid
- myoglobinuria
- Reye-like
- rhabdomyolysis
- sudden infant death
- VLCAD
- VLCAD deficiency