Reference Materials for Pharmacogenetics

Reference Materials for Pharmacogenetics
VKORC1 warfarin resistant variants, CYP2C9*13, CYP2C10*35, CYP2C cluster, GGCXexcel icon GeT-RM characterized 18 cell line DNA samples to create reference materials containing pharmacogenetic alleles classified as “Tier 2” by the Association for Molecular Pathology PGx Work Group (J. Mol Diag 2021 23:952-958external icon)A subscription to the journal is required to view the article until 2022; after that it will be available to the public. The data from each test method and consensus diplotypes for each sample can be viewed here Tier 2 GeT-RM website tableexcel icon
CYP2D6excel icon 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 21:1034-1052pdf icon). The data from each test method and consensus diplotypes for each sample, assays used, and alleles tested can be viewed hereexcel icon.
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, VKORC1excel icon 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): 109-23external icon). The assays used and alleles tested can be viewed with this linkpdf icon. 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:
CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1pdf icon 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):835-846pdf iconexternal icon). The assays used and alleles tested in this study can be viewed with this linkexcel icon. (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: 703-715external icon) 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.

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Page last reviewed: September 9, 2021