Resolving false positive CYP2D6 genotype results: CYP2D7 variation is the culprit

TaqMan™ genotyping assays are widely used to genotype CYP2D6, which encodes a major drug metabolizing enzyme. Assay design for CYP2D6, however, is arduous due to the presence of two pseudogenes, as well as structural, and copy number variations. There are numerous SNPs known to reside in the CYP2D6 gene that contribute to a wide range of enzymatic function. This scientific poster presents a study which aims to identify the underlying cause triggering false positive calls for the SNPs defining the CYP2D6*15 and *35 allelic variants and remediate those by redesigning and validating alternative TaqMan™ genotype assays.