| Interpretive Data: |
Background Information for Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing:
Characteristics: Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic dicarboxylic aciduria, vomiting, hepatomegaly, hepatic failure, encephalopathy, and sudden death. Manifestations often triggered by prolonged fasting or other metabolic stressors.
Incidence: 1 in 15,000.
Inheritance: Autosomal recessive.
Cause: Deleterious ACADM gene mutations.
Clinical Sensitivity: 95 to 99 percent
Methodology: Polymerase chain reaction (PCR) followed by bidirectional sequencing of the entire coding region and intron/exon boundaries of the ACADM gene.
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 deletion/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 x 12 Amplification; 83904 x 12 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: |
MCAD ACADM (Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing)
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![[ image for: Patient History for MCAD]](icon_43.jpg){kind=icon}