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Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication
2004208
Ordering Recommendation

Molecular (DNA) test to confirm a diagnosis of Very Long Chain Dehydrogenase (VLCAD) deficiency when Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing (2002001) does not identify two causative mutations. Carrier testing for individuals with a family history of a deletion or duplication in the ACADVL gene.

Mnemonic
VLCAD DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 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/VLCAD (ACADVL) Deletion/Duplication:
Characteristics
: Fatty acid beta-oxidation disorder leading to hypoketotic hypoglycemia, dicarboxylic aciduria, 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:
Unknown; may be as high as 10 percent.
Methodology
: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large ACADVL coding region deletions/duplications.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. ACADVL single base pair substitutions, small deletions/duplications, regulatory region mutations and deep intronic mutations will not be detected; deletion/duplication breakpoints will not be determined. Mutations in genes other than ACADVL will not be detected. Deletions/duplications in exon 2 of ACADVL 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)
81479
Components
Component Test Code*Component Chart NameLOINC
2004209VLCAD DD Specimen
2004210VLCAD (ACADVL) Del/Dup Interpretation
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Aliases
  • ACADVL deletion/duplication assay
  • VLCAD