Ordering Recommendation

Acceptable molecular test to diagnose or rule out very long- chain acyl-CoA dehydrogenase (VLCAD) deficiency following clinical and/or biochemical presentation. Also refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Carnitine Panel (0081110), and Organic Acids, Urine (0098389).

Mnemonic
VLCAD FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

14-21 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

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

Reference Interval
Interpretive Data

Background Information for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing:
Characteristics:
  Fatty acid beta-oxidation disorder leading to hypoketotic hypoglycemia, hepatic failure, Reye-like symptoms, cardiomyopathy, skeletal myopathy and sudden death. Clinical presentation varies in severity and age of onset.
Incidence: Approximately 1 in 40,000.
Inheritance: Autosomal recessive.
Cause: Deleterious ACADVL gene mutations.
Clinical Sensitivity: 80-90 percent.
Methodology: Bidirectional sequencing of the entire ACADVL coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81406

Components
Component Test Code* Component Chart Name LOINC
2002002 VLCAD (ACADVL) Sequencing
2002003 VLCAD FGS Specimen
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Aliases
  • ACADVL sequencing assay
  • VLCAD
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing