Genetic testing for thrombophilia mutations.

  title={Genetic testing for thrombophilia mutations.},
  author={M. D. Vicki Stover Hertzberg},
  journal={Seminars in thrombosis and hemostasis},
  volume={31 1},
Venous thrombosis is a multicausal disease due to the interaction of genetic and environmental risk factors. Some of the recently discovered genetic risk factors, such as factor V Leiden and prothrombin G20210A mutations, are quite common in the population. Accordingly, laboratory investigation of thrombophilic disorders has expanded to incorporate molecular assays, which unlike functional assays, are unequivocal with no borderline values. When testing for these mutations, specific issues of… CONTINUE READING