Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project

Overview

Journal J Mol Diagn

Publisher Elsevier

Specialties Molecular Biology
Pathology

Date 2022 Aug 5

PMID 35931342

Authors

Victoria M Pratt

Wendy Y Wang

Erin C Boone

Ulrich Broeckel

Neal Cody

Lisa Edelmann

Andrea Gaedigk

Ty C Lynnes

Elizabeth B Medeiros

Ann M Moyer

Matthew W Mitchell

Stuart A Scott

Petr Starostik

Amy Turner

Lisa V Kalman

Affiliations

Soon will be listed here.

Abstract

Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and NUDT15 variants included in clinical tests. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention-based Genetic Testing Reference Material (GeT-RM) coordination program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Institute for Medical Research, has characterized 19 DNA samples derived from Coriell cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using a variety of commercially available and laboratory developed tests and/or Sanger sequencing. Of the 12 samples characterized for TPMT, newly identified variants include TPMT∗2, ∗6, ∗12, ∗16, ∗21, ∗24, ∗32, ∗33, and ∗40; for the 7 NUDT15 reference material samples, newly identified variants are NUDT15∗2, ∗3, ∗4, ∗5, ∗6, and ∗9. In addition, a novel haplotype, TPMT∗46, was identified in this study. Preexisting data on an additional 11 Coriell samples, as well as some supplemental testing, were used to create comprehensive reference material panels for TPMT and NUDT15. These publicly available and well-characterized materials can be used to support the quality assurance and quality control programs of clinical laboratories performing clinical pharmacogenetic testing.

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