Reference Interval:
By report
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| Interpretive Data: |
Background Information for Cytochrome P450 2C9 (CYP2C9) 2 Mutations:
Characteristics: Some CYP2C9 mutations cause impaired drug metabolism, a major cause of adverse drug reactions or lack of drug response. For example, CYP2C9 variants are associated with slowed clearance and lower dose requirements for warfarin.
Inheritance: Autosomal recessive.
Cause: CYP2C9 gene mutations.
Mutations Tested: CYP2C9 *2 (c.430C>T) decreased function allele and CYP2C9 *3 (c.1075A>C) non-functional allele.
Allele Frequencies: CYP2C9 *2: Caucasians 0.08-0.13, Asians 0.02-0.06, African Americans less than 0.01. CYP2C9 *3: Caucasians 0.06-0.10, Asians less than 0.01, African Americans 0.01-0.04.
Clinical Sensitivity: Greater than 90 percent of deleterious CYP2C9 mutations are detected in Caucasians; sensitivity is unknown in other ethnicities.
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Only two common CYP2C9 mutations will be detected. Additional mutations in this or other genes will not be detected. Rare diagnostic errors can occur due to primer site mutations. Mutation detection is not a substitute for therapeutic drug or other clinical monitoring. Non-genetic factors may also affect drug metabolism.
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 x2 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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