Prothrombin and Factor V Leiden testing
Thrombophilia testing is required by many fertility centers and Recurrent Pregnancy Loss (RPL) specialists. In most cases, Prothrombin (i.e., the G20210A variant in the F2 gene) and Factor V Leiden (i.e., the G1691A variant in the F5 gene) are requested.
Although their relevance to the risk of pregnancy loss is limited, testing may be useful to define the thrombophilic risking for other circumstances. The MTHFR thermolabile polymorphisms (A1298C and C677T) may also be requested and are available for testing, although their role in the human thrombophilic risk is irrelevant and their testing should be discouraged (ACMG statement 2009).