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thiopurine methyltransferase (TPMT) gene mutation

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]

Related

thiopurine S-methyltransferase; thiopurine methyltransferase (TPMT)

General

gene mutation testing; gene mutation analysis

References

  1. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline information for azathioprine and TPMT. https://www.pharmgkb.org/guideline/PA166104933
  2. ARUP Laboratories: Thiopurine Methyltransferase Testing - TPMT. https://arupconsult.com/content/thiopurine-methyltransferase-testing
  3. Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018