Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N

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Presentation transcript:

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N. Beyer, Ulrich Broeckel, Ruth Epstein-Baak, Paul Hujsak, Ruth Kornreich, Jun Liao, Rachel Lorier, Stuart A. Scott, Chingying Huang Smith, Lorraine H. Toji, Amy Turner, Lisa V. Kalman The Journal of Molecular Diagnostics Volume 18, Issue 1, Pages 109-123 (January 2016) DOI: 10.1016/j.jmoldx.2015.08.005 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Assay design can cause inconsistent allele calls and interpretation. A CYP2D6 assay that only detects c.2850C>T (rs16947) and c.4180G>C (rs1135840) without copy number cannot distinguish among *2 (c.2850C>T, c.4180G>C), *17 (c.1023C>T [rs28371706], c.2850C>T, c.4180G>C), *21 (c.2573_2574insT [rs72549352], c.2850C>T, c.4180G>C), or *2XN (c.2850C>T, c.4180G>C, XN), which have different predicted phenotypes. EM, extensive metabolizer; IM, intermediate metabolizer; UM, ultrarapid metabolizer. The Journal of Molecular Diagnostics 2016 18, 109-123DOI: (10.1016/j.jmoldx.2015.08.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions