TPMT and NUDT15 Genotyping
August 2, 2022
Supplemental Implementation Tools
Country of Publication
The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This article provides recommendations for a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered the functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. The ultimate goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This article focuses on clinical TPMT and NUDT15 PGx testing, which may be applied to all TPMT and NUDT15-related medications. These recommendations are not to be interpreted as prescriptive, but to provide a reference guide.
Male, Female, Adolescent, Adult, Child, Older adult
Health Care Settings
Ambulatory, Laboratory services, Outpatient
Nurse, nurse practitioner, physician, physician assistant
Diagnosis, Assessment and screening
D060005 - Genotyping Techniques, D005838 - Genotype
Clinical PGx testing, genotyping, pharmacogenomic testing, PGx, NUDT15, TPMT
Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase. J Mol Diagn. 2022 Aug 2:S1525-1578(22)00194-5. doi: 10.1016/j.jmoldx.2022.06.007. Epub ahead of print. PMID: 35931343.