Thiopurine S-Methyltransferase (TPMT) Genotype
Test Code
Clinical Significance
Thiopurine S-Methyltransferase (TPMT) Genotype - Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase) catalyzes thiopurine S-methylation, an important metabolic pathway for antineoplastic and immunosuppressive drugs. In the US, 11% of the population show intermediate TPMT activity, and approximately 1 in 300 have TPMT deficiency. Given potentially fatal nature of hematopoietic toxicity when full doses of mercaptopurine or azathioprine are given to TPMT deficient patients, and the difficulty to measure TPMT activity accurately when patients have been given red cell transfusions, the molecular method to determine TPMT genotype permits prospective identification of patients at risk.
Test Resources
Test Details
Methodology
Reference Range(s)
Alternative Name(s)
Preferred Specimen(s)
5 mL whole blood collected in an EDTA (lavender-top) tube
Alternative Specimen(s)
Whole blood collected in a sodium heparin (green-top), or ACD-A (yellow-top) tube
Minimum Volume
3 mL
Collection Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Transport Container
EDTA (lavender-top) tube
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: Unacceptable
Setup Schedule
Refrigerated: 8 days
Frozen: Unacceptable