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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.


ABSTRACT: Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing community and the Coriell Cell Repositories, have characterized a panel of 107 genomic DNA reference materials for five loci (CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1) that are commonly included in pharmacogenetic testing panels and proficiency testing surveys. Genomic DNA from publicly available cell lines was sent to volunteer laboratories for genotyping. Each sample was tested in three to six laboratories using a variety of commercially available or laboratory-developed platforms. The results were consistent among laboratories, with differences in allele assignments largely related to the manufacturer's assay design and variable nomenclature, especially for CYP2D6. The alleles included in the assay platforms varied, but most were identified in the set of 107 DNA samples. Nine additional pharmacogenetic loci (CYP4F2, EPHX1, ABCB1, HLAB, KIF6, CYP3A4, CYP3A5, TPMT, and DPD) were also tested. These samples are publicly available from Coriell and will be useful for quality assurance, proficiency testing, test development, and research.

SUBMITTER: Pratt VM 

PROVIDER: S-EPMC2962854 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature

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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

Pratt Victoria M VM   Zehnbauer Barbara B   Wilson Jean Amos JA   Baak Ruth R   Babic Nikolina N   Bettinotti Maria M   Buller Arlene A   Butz Ken K   Campbell Matthew M   Civalier Chris C   El-Badry Abdalla A   Farkas Daniel H DH   Lyon Elaine E   Mandal Saptarshi S   McKinney Jason J   Muralidharan Kasinathan K   Noll LeAnne L   Sander Tara T   Shabbeer Junaid J   Smith Chingying C   Telatar Milhan M   Toji Lorraine L   Vairavan Anand A   Vance Carlos C   Weck Karen E KE   Wu Alan H B AH   Yeo Kiang-Teck J KT   Zeller Markus M   Kalman Lisa L  

The Journal of molecular diagnostics : JMD 20101001 6


Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing community and the Coriell Cell Repositories, have characterized a panel of 107 genomic DNA reference materials for five  ...[more]

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