| 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: 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: Rare diagnostic errors can occur due to primer/probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected; deletion/duplication breakpoints will not be determined.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x11 Amplification; 83904 x11 Sequencing; 83909 Capillary electrophoresis; DelDup: 83896 Nucleic acid probes; 83898 Amplification; 83914 Extension; 83909 Capillary electrophoresis; 83912 Interpretation and report -Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
VLCAD (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication)
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