Open AccessA call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing
Author(s) -
Deloughery Thomas G.,
Hunt Beverley J.,
Barnes Geoffrey D.,
Connors Jean M.
Publication year - 2022
Publication title -
research and practice in thrombosis and haemostasis
Language(s) - English
Resource type - Journals
ISSN - 2475-0379
DOI - 10.1002/rth2.12739
Subject(s) - methylenetetrahydrofolate reductase , thrombophilia , medicine , genetic testing , venous thromboembolism , thrombosis , genetics , gene , genotype , biology
Testing for polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene is still a standard part of thrombophilia testing in many laboratories. However, it is clear that these polymorphisms are not risk factors for arterial or venous thrombosis and therefore should not be part of thrombophilia testing. Eliminating MTHFR from thrombophilia testing will reduce patient concerns and health care costs.