thiopurine methyltransferase (TPMT) gene mutation
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Indications
- evaluation for thiopurine (azathioprine or 6-mercaptopurine) dosing
Clinical significance
- prevalence by phenotype
- low activity: 0.3%*
- intermediate: 10%
- normal activity: 90%
- see ref[2] for genotypes
* low activity associated with greater risk of toxicity[2][3]
More general terms
Additional terms
References
- ↑ Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline information for azathioprine and TPMT. https://www.pharmgkb.org/guideline/PA166104933
- ↑ 2.0 2.1 2.2 ARUP Laboratories: Thiopurine Methyltransferase Testing - TPMT. https://arupconsult.com/content/thiopurine-methyltransferase-testing
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018