- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|2004213||VLCAD FGA Specimen|
|2004214||VLCAD (ACADVL) Interpretation|
- ACADVL sequencing and deletion/duplication assay