CYP2D6 Genotyping
One-stop solution to characterize CYP2D6
CYP2D6 is involved in the metabolism of ~25% of clinically used drugs. It is a highly polymorphic gene with over 113 distinct star (*) allele haplotypes, and many of the SNPs lead to changes in enzyme activity. CYP2D6 has complex structural arrangements. It is located next to the highly homologous pseudogene CYP2D7, leading to the generation of stable duplications, deletions and D6/D7 hybrid allele1. Correctly characterizing CYP2D6 genotype/phenotype has been one of the pressing issues that poses challenges to the pharmacogenetics community2.
Comprehensive analysis of CYP2D6
Our innovative technology offers a one-stop solution to successfully characterize CYP2D6, including identifying rare SNPs, CNVs and hybrid alleles. Whether you are looking for a CYP2D6 single gene test, or multi-gene panel including CYP2D6, we provide the unparalleled clinical grade CYP2D6 analysis trusted by the world leading healthcare systems to guide the clinical decision making3. Our comprehensive approach yields ethnicity-unbiased testing result, which is important for analyzing diverse populations4.
Case Example: PG4KDS PGx Clinical Trial4
An African American male was enrolled into the PG4KDS PGx clinical trial at St. Jude Children’s Research Hospital. Previous genotyping by a competitor’s CYP2D6 assay reported a *4/*17 diplotype (intermediate metabolizer). However, this CYP2D6 assay was not designed to detect the *40 allele. Subsequent genotyping by RPRD detected CYP2D6 *4/*40 genotype (poor metabolizer). RPRD’s comprehensive approach yields ethnicity-unbiased testing result, which is essential for analyzing diverse populations.
- CYP2D6 *40 is most commonly observed in the African population and differs from *17 by the presence of an in-frame insertion variant rs72549356. There is significant clinical relevance of the variant: *17 has reduced function, while *40 has no function. Most commercial CYP2D6 genotyping tests do not include this variant, and thus would have assigned an inaccurate phenotype.
CYP2D6 Alleles Reported
Gene Alleles Reported
CYP2D6 *2, *3A, *3B, *4, *5, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17, *18, *19, *20, *22, *23, *25, *28, *29, *31, *33, *35, *37, *38, *40, *41, *42, *43, *44, *45, *46, *47, *48, *49, *51, *52, *53, *54, *55, *56A, *56B, *59, *62, *70, *71, *72, *73, *75, *81, *82, *84, *85, *86, *88, *89, *95, *100, *101, *102, *103, *107, *109, *114, CNV (allele duplications and multiplications)
Identify rare CYP2D6 genotypes and complex structural arrangement
- Rare alleles not found on most platforms.
- Duplication and deletions, without the need for additional testing
- Complex structural arrangements
- Part of the GeT-RM collaboration
- Gaedigk, A. et al. The Journal of Molecular Diagnostics. 2019. 21 (6): P1034.
Collaborate with the KOLs
- RPRD’s scientists, member of the CYP2D6 Gene Expert Panel at PharmVar, collaborate with the KOLs to contribute to the knowledge base of CYP2D6 and establishing its clinical utility
- Nofziger, C. et al. Clin Pharmacol Ther. 2020. 107 (1): 154
- Characterization of CYP2D6 Structural Variants Containing the CYP2D6 *68 Hybrid. [poster]
- Identification of Novel CYP2D6 Haplotypes that Interfere with TaqMan Copy Number Analysis [poster]
Characterize CYP2D6 accurately for diverse populations
- Our comprehensive analysis of rare alleles leads to ethnicity-unbiased diagnosis of CYP2D6, especially important for diverse populations
- Hoshtsuki, K. et al. Genetics in Medicine. 2020. 22 (1): 232
custom PGx solutions
RPRD’s experience in precision medicine and its CLIA-certified laboratory offer tailored PGx solutions to meet your unique needs.
pharmacoscan solution
Comprehensive analysis of known PGx markers in a single assay for clinical trials
References
- PharmVar Gene CYP2D6. Pharmcogene Variation Consortium. 2019
- Nofziger, C. et al. Clin Pharmacol Ther. 2020. 107 (1): 154
- Hoffman J.M. et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):45.
- Hoshtsuki, K. et al. Genetics in Medicine. 2020. 22 (1): 232