Reference Interval:
By report
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| Interpretive Data: |
Background Information for Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication:
Characteristics: Impaired drug metabolism causing adverse drug reactions or lack of drug response. Drugs metabolized by CYP2D6 include antiestrogens (tamoxifen), alpha-blockers, analgesics, anticonvulsives, antidepressants, antidiabetics, antihypertensives, antipsychotics, antitussives, beta blockers, cardioactives, norepinephrine reuptake inhibitors, and stimulants. Additionally, many drugs inhibit CYP2D6 activity, and may affect drug response.
Inheritance: Autosomal recessive.
Cause: CYP2D6 gene mutations.
Mutations Tested: All common and most rare alleles with known clinical significance.
Negative: No mutations detected is predictive of *1 alleles.
Functional: *2A (-1584C>G).
Decreased function: *9 (2613-5delAGA), *10 (100C>T), *17 (1023C>T), *29 (1659G>A) *41 (2988G>A).
Non-functional: *3 (2549A>del), *4 (1846G>A), *5 (gene deletion),*6 (1707T>del), *7 (2935A>C), *8 (1758G>T), *12 (124G>A), *14 (1758G>A).
Increased function: Duplicated functional alleles.
Incidence of Poor Metabolizer Phenotype: 10 percent of Caucasians and Hispanics, 2 percent of African Americans, and 1 percent of Asians.
Penetrance: Drug dependent.
Clinical Sensitivity: Greater than 95 percent of deleterious CYP2D6 mutations are detected in Caucasians; sensitivity is unknown in other ethnicities.
Methodology: Multiplex PCR and Detection Primer Extension.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Only the targeted CYP2D6 mutations will be detected. Mutations in 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 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; 83900 Amplification multiplex; 83901 x6 Amplification; 83914 x12 Mutation identification; 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: |
CYP2D6 ( Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication)
, Cytochrome P450 2D6 Genotype for Tamoxifen Hormonal Therapy, Saliva (Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication)
, Tamoxifin Drug Metabolism ( Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication)
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