Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2002002||VLCAD (ACADVL) Sequencing|
|2002003||VLCAD FGS Specimen|
- ACADVL sequencing assay