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Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing
2002001
Ordering Recommendation

Molecular (DNA) test to diagnose or rule out Very Long Chain Dehydrogenase (VLCAD) deficiency following clinical and biochemical presentation. Also refer to Acylcarnitine Quantitative Profile, Plasma (0040033) 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.
Submit With Order
ARUP Consult®
Disease Topics
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 Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81406
Components
Component Test Code*Component Chart NameLOINC
2002002VLCAD (ACADVL) Sequencing
2002003VLCAD 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