#ExistInterpData>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: Rare diagnostic errors can occur due to primer/probe site mutations. 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
||VLCAD (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication)