When should tests for heritable thrombophilia be performed
• When there is evidence of familial venous thrombosis and diagnosis of thrombophilic defect may help determine management of symptomatic patients.
• When case-finding by family studies is likely to reduce risk of VTE at high risk periods in family members.
Heritable defects typically tested for
• Antithrombin.
• Prothrombin gene mutation (F2 G20210A).
• High factor VIII level.
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