Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory P450 CYP2D6

P450 CYP2D6

Test Description:
The P450-2D6 assay detects a panel of 12 small nucleotide variants found within the highly genetically polymorphic cytochrome P450-2D6 gene located on chromosome 22. The kit also detects gene rearrangements associated with the deletion (*5) and duplication genotypes. The enzyme product of the P450-2D6 gene is involved in the oxidative metabolism of more than 100 clinically relevant drugs. Enzyme activity varies with the genotype resulting in different drug metabolism phenotypes. The 12 small nucleotide changes tested for in this kit represent the most prevalent phenotypically-relevant variants within the P450-2D6 gene.

1. Abraham, BK, Adithan, C., Genetic Polymorphism of CYP2D6. Ind. J Pharmacol 2001; 33:147-169.
2. McElroy S, Richmond J, Lira M, Friedman D, Silber BM, Milos PM. CYP2D6 genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting. AAPS Pharm Sci 2000; 2:E33.
3. Information was obtained from the CYP2D6 allele nomenclature database at http://www.imm.ki.se/CYPalleles/cyp2d6.htm
4. Raimundo S, Toscano C, Klein K et al. A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects. Clin Pharmacol Ther 2004; 76: 128-138.
5. Toscano C, Klein K, Blievernicht J et al. Impaired expression of CYP2D6 in intermediate metabolizers carrying the *41 allele caused by the intronic SNP 2988G>A: evidence for modulation of splicing events. Pharmacogenet Genomics 2006; 16: 755-766.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 83891, 83892, 83894, 83898x2, 83912, 83914x10

Requisition Form: General Test Requisition [PDF]

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