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

VLCAD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

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

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: ACADVL (NM_000018)

Hotline History

N/A

CPT Codes

81406; 81479

Components

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.

Aliases

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