| Interpretive Data: |
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: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.
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): |
83891 Isolation; 83898 x11 Amplification; 83904 x11 Sequencing; 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)
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![[ image for: Patient History for VLCAD]](icon_50.jpg){kind=icon}