Reference Materials for Pharmacogenetics

CYP2D6

The CYP2D6 gene in DNA from 179 cell lines with rare and/or difficult to analyze alleles and/or diplotypes were characterized by the GeT-RM using a variety of methods (J Mol Diag 2019 21:1034-1052). The data from each test method and consensus diplotypes for each sample, assays used, and alleles tested can be viewed here.

CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4F2, DPYD, GSTM1, GSTP1, GSTT1, NAT1, NAT2, SLC15A2, SLC22A2, SLCO1B1, SLCO2B1, TPMT, UGT1A1, UGT2B7, UGT2B15, UGT2B17, VKORC1

DNA from 137 cell lines was characterized by the GeT-RM for 28 PGx genes using a variety of methods. (J Mol Diag 2016 Jan:18(1): 109-23). The assays used and alleles tested can be viewed with this link. Consensus genotype data and data by platform are presented in the following tables for all 28 loci together and for each of the 28 loci individually:

- Consensus genotypes for 28 PGx genesexcel icon

WGS data (FASTQ and BAM files) for 70 of these samples are freely available for download and use from the European Nucleotide Archiveexternal icon
Tables showing data from each of the platforms used to characterize each of the 28 PGx genesexcel icon

CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1

DNA from 107 cell lines was characterized for CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1 by the GeT-RM using a variety of methods. (J Mol Diag 2010 12(6):835-846). The assays used and alleles tested in this study can be viewed with this link. (106 of these samples were also characterized by GeT-RM for HLA-A, B, C, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, DPA1, and DPB1, see Inherited Genetic Reference Material and HLA page. (J Mol Diag 2018, 20: 703-715) Data are presented in the following tables for all 5 loci together and for each of the 5 loci individually:

Additional GeT-RM Data

ABCC2, ABCC4, CDA, CYP1B1, CYP2A13, CYP2F1, CYP2J2, CYP2S1, CYP3A7, CYP3A43, CYP4B1, CYP19A1, FMO2, G6PD, IFNL3, ITPA, PTGIS, SULT1A1, TBXAS1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9, and UGT1A10excel icon	These are additional data for 137 DNA samples obtained during the GeT-RM PGx characterization study (J Mol Diag 2016 Jan:18(1) 109-23external icon). Data are from one assay only. The assay used to characterize each gene is indicated.
CYP4F2, EPHX1, ABCB1, HLAB, KIF6, CYP3A4, CYP3A5, TPMT, DPD.pdf icon	These are additional data about 107 DNA samples obtained during the GeT-RM PGx characterization study (J Mol Diag 2010 12(6):835-846pdf iconexternal icon). Data are from only one laboratory.

Page last reviewed: November 5, 2019

Content source: Centers for Disease Control and Prevention