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Objective The nucleoside diphosphate linked moiety X (Nudix)-Type motif 15 (NUDT15) enzyme is involved in thiopurine metabolism. Genetic variants in the  NUDT15  gene result in decreased NUDT15 activity, which in addition to decreased thiopurine S-methyltransferase (TPMT) activity, contributes to thiopurine toxicity. Current standard approaches of  NUDT15  genetic analysis have mainly been targeting several common variants. We aimed to develop a clinical-grade DNA-based assay for genetic analysis of the  NUDT15  gene using Sanger di-deoxy sequencing. Results Sanger sequencing results were fully concordant with the expected  NUDT15  genotype in all 17 cell line samples with known  NUDT15  variants (accuracy = 100%; 95% CI 80.49 to 100.00%). Precision studies showed 100% intra-run repeatability and 100% inter-run reproducibility, respectively. Genetic analysis of the  NUDT15  gene was performed for 80 patients of Asian ethnicity with wildtype  TPMT . 76% (N = 61) of the studied individuals had  NUDT15  *1/*1 diplotype. 25% (N = 14) of Chinese and 36% (N = 5) of Malays were found to carry at least 1 non-functional  NUDT15  allele. Our study confirmed a high frequency of  NUDT15  c.415C&gt;T and c.55_56insGAGTCG variants in the Chinese and Malay ethnic groups in Singapore, highlighting the importance of determining  NUDT15  genotype prior to thiopurine dosing.

A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population