Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication

3004419
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Very Long-Chain ACYL-CoA Dehydrogenase (VLCAD) Deficiency Patient History Form

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Additional Technical Information

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

14-21 days

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
02/22/2022
X
N/A

CPT Codes

81406; 81479

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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