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
Reported
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
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
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
Interpretive Data
Note
Gene Tested: ACADVL (NM_000018)
CPT Codes
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
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