Characterization of CYP2D6 reference materials by GeT-RM

The CDC-based Genetic Testing Reference Material Coordination Program (GeT-RM) has published an extended panel of Coriell samples with CYP2D6 genotype information.
Not only have the existing 137 samples been extensively re-tested on different platforms, selected samples have also been sequenced to determine the haplotype of novel or rare allelic variants which have not been characterized in the past. Furthermore, an additional 42 samples with rare, unusual or complex diplotypes were extensively interrogated. All new information was submitted to PharmVar to facilitate dissemination to PharmGKB and CPIC.
These publicly available samples will support academic research as well as the quality-assurance and quality-control programs of clinical laboratories performing CYP2D6 testing.
Dr. Lisa Kalman of the CDC will present the project at the Annual Meeting & Expo of the Association for Molecular Pathology on Nov 7-9 in Baltimore.