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Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project
Victoria M Pratt1, Wendy Y Wang2, Erin C Boone2
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
The Journal of Molecular Diagnostics : JMD
|August 5, 2022
Summary
New reference materials for TPMT and NUDT15 variants are now available to improve pharmacogenetic testing quality. These well-characterized DNA samples support clinical laboratory quality assurance and control programs.
Area of Science:
- Clinical Chemistry
- Genetics
- Pharmacogenomics
Background:
- Limited availability of quality control and reference materials for TPMT and NUDT15 variants hinders pharmacogenetic testing.
- Clinical and research laboratories increasingly offer pharmacogenetic testing.
Purpose of the Study:
- To address the need for quality control materials for TPMT and NUDT15 variants.
- To characterize DNA samples for use as reference materials in pharmacogenetic testing.
Main Methods:
- Characterization of 19 DNA samples from Coriell cell lines.
- Distribution of DNA samples to four volunteer testing laboratories for genotyping.
- Use of commercially available and laboratory-developed tests, alongside Sanger sequencing.
Main Results:
- Identification of new variants for TPMT (TPMT*2, *6, *12, *16, *21, *24, *32, *33, *40) and NUDT15 (NUDT15*2, *3, *4, *5, *6, *9).
- Discovery of a novel haplotype, TPMT*46.
- Creation of comprehensive reference material panels for TPMT and NUDT15 using existing and new data.
Conclusions:
- Publicly available, well-characterized reference materials for TPMT and NUDT15 have been developed.
- These materials will support quality assurance and control in clinical pharmacogenetic testing laboratories.
