Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Pathogenic ACADVL gene mutations.
Clinical Sensitivity: May be as high as 95 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the ACADVL gene. 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. Regulatory region mutations and deep intronic mutations will not be detected; deletion/duplication breakpoints will not be determined. Deletions/duplications in exon 2 of ACADVL 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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2004213||VLCAD FGA Specimen|
|2004214||VLCAD (ACADVL) Interpretation|
- ACADVL sequencing and deletion/duplication assay