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, DNA hybridization, and Electrochemical Detection.
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.
See Compliance Statement C: www.aruplab.com/CS
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| CPT Code(s): |
81227
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Cross References: |
Cytochrome P450 2C9 Genotype by Sequencing Analysis, Saliva (Cytochrome P450 2C9 (CYP2C9) 2 Mutations)
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