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.

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
* 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
  • ACADVL sequencing assay
  • VLCAD
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing