What is it?
Thrombophilias
Thromboembolic disease, which is a cause of high morbidity in our society, has a multifactor aetiology which involves genetic and acquired factors, as well as the influence of environmental factors. In these cases, genetic factors predispose the individual to the effects of environmental factors, thereby increasing their risk of thrombophilia.
Knowledge of the genetic status of the individual allows better prevention of the risks and effects of the disease. Different hereditary pathogenic variants associated with thromboembolic risk have now been identified.
We study a panel of these variants in 4 different genes: factor V Leiden, the G20210A variant in the prothrombin gene, the C46T variant in the F12 gene (factor XII), and the C677T variant in the MTHFR gene. Study of these pathogenic variants is recommended by professional medical societies.
Studying panels that include more genes and/or variants does not seem to bring additional clinical advantages.
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