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

J Mol Diagn. 2010 Nov;12(6):835-46. doi: 10.2353/jmoldx.2010.100090. Epub 2010 Oct 1.


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.

MeSH terms

  • Alleles
  • Aryl Hydrocarbon Hydroxylases / genetics*
  • Cell Line
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2C9
  • Cytochrome P-450 CYP2D6 / genetics*
  • DNA / genetics
  • Genetic Markers*
  • Genome, Human
  • Genotype
  • Glucuronosyltransferase / genetics*
  • Humans
  • Mixed Function Oxygenases / genetics*
  • Pathology, Molecular / instrumentation
  • Pathology, Molecular / methods
  • Pharmacogenetics* / instrumentation
  • Pharmacogenetics* / methods
  • Vitamin K Epoxide Reductases


  • Genetic Markers
  • DNA
  • Mixed Function Oxygenases
  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9
  • Aryl Hydrocarbon Hydroxylases
  • CYP2C19 protein, human
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6
  • VKORC1 protein, human
  • Vitamin K Epoxide Reductases
  • UGT1A1 enzyme
  • Glucuronosyltransferase