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).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).
New York State Clients: Lavender (EDTA) or Yellow (ACD solution)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature


Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.


Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable


Massively Parallel Sequencing




10-15 days

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)


Gene Tested: ACADVL (NM_000018)

Hotline History


CPT Codes

81406; 81479


Component Test Code* Component Chart Name LOINC
3004420 VLCAD Specimen 66746-9
3004421 VLCAD Interp 73735-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • exercise intolerance
  • hypoketotic hypoglycemia
  • long chain fatty acid
  • myoglobinuria
  • Reye-like
  • rhabdomyolysis
  • sudden infant death
  • VLCAD deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication