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Heritable Thrombophilia

The MDC provides a diagnostic referral service for genetic risk factors for venous thromboembolism (VTE), specifically for the identification of the FV Leiden mutation and the prothrombin gene variant (PGV).

Phenotypic assays to measure antithrombin, protein C and protein S, rare deficiencies of which are associated with increased risk for VTE, and also lupus anticoagulant screening, are available from the Blood Coagulation Laboratory at CMFT.

Note: There is convincing evidence that homozygosity for the methylenetetrahydrofolate reductase (MTHFR) genetic variant C677T is not a risk factor for VTE. There is no rationale for MTHFR C677T genotyping for clinical diagnostic purposes in VTE, hence this is not offered by the MDC.