Reference Interval:
Negative: The patient is negative for the ACADM 985A>G and 199T>C mutations. Persons affected with MCAD deficiency may have rare mutations in ACADM or other genes not detected by this assay.
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| Interpretive Data: |
Interpretive Data:
Background Information for Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations:
Characteristics: Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic 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: 75 percent for MCAD deficiency.
Mutations Tested: ACADM mutations c.985A>G (p.K329E, also known as K304E) and c.199T>C (p.Y67H, also known as Y42H).
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. ACADM mutations other than c.985A>G and c.199T>C will not be detected.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
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 x2 Amplification; 83896 x4 Nucleic acid probes; 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 Deficiency (Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations)
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