Thiopurine S-methyltransferase genotyping (TPMT genotyping)


Reference Range

This test is useful in the differential diagnosis of hereditary thrombophilia. Around 20% of heterozygotes and 40% of homozygotes develop thrombosis at an average age of 36 and 25 respectively. The relative risk of venous thrombosis for carriers of this mutation is estimated to be 5-10-fold increase for heterozygote and 50-100-fold increase for homozygote individuals. See Activated Protein C Resistnace (Factor V Leiden), Functional; Protein C Antigen Assay; and Protein S Total and Free.

Special Requirements

EDTA whole blood Refrigerated. ALWAYS attach the medical prescription, clinical data and signed conset form from both patient and doctor. Consent form can be found on mybiolab.

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