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J Mol Diagn. 2019 Nov;21(6):1034-1052. doi: 10.1016/j.jmoldx.2019.06.007. Epub 2019 Aug 9.

Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.

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Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Kansas City, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
Medical College of Wisconsin, Milwaukee, Wisconsin; RPRD (Right Patient Right Drug) Diagnostics, LLC, Wauwatosa, Wisconsin.
Agena Bioscience, San Diego, California.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Sema4, Stamford, Connecticut.
Department of Pathology, University of Utah, Salt Lake City, Utah.
ARUP Laboratories, Salt Lake City, Utah.
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Informatics and Data Science Branch, Division of Laboratory Systems, Office of Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia. Electronic address:


Pharmacogenetic testing increasingly is available from clinical and research laboratories. However, only a limited number of quality control and other reference materials currently are available for the complex rearrangements and rare variants that occur in the CYP2D6 gene. To address this need, the Division of Laboratory Systems, CDC-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Cell Repositories (Camden, NJ), has characterized 179 DNA samples derived from Coriell cell lines. Testing included the recharacterization of 137 genomic DNAs that were genotyped in previous Genetic Testing Reference Material Coordination Program studies and 42 additional samples that had not been characterized previously. DNA samples were distributed to volunteer testing laboratories for genotyping using a variety of commercially available and laboratory-developed tests. These publicly available samples will support the quality-assurance and quality-control programs of clinical laboratories performing CYP2D6 testing.

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