Prothrombin, also known as Factor II (FII), is a protein involved in the blood clotting mechanism. The autosomal recessive G20210A mutation present in the 3'-untranslated region of FII leads to increased translation of the protein and thus increased risk of hypercoagulability disorders or thrombophilia1-4.
Factor V Leiden (FVL) is the most common hereditary factor V (FV) variant of coagulation, which prevents FV inactivation by protein C, thus increasing the risk of blood thrombus formation1-4.
Methylenetetrahydrofolate reductase (MTHFR) is involved in amino acid metabolism. Mutations (C677T and A1298C) leading to reduced activity of this enzyme are associated with increased levels of homocysteine in the blood. It is believed that this may be associated with the onset of several diseases, including vascular occlusive disease and homocystinuria1-4.
The G20210A mutation of FII is the second most frequent variant implicated in hypercoagulability disorders in the Caucasian population with a prevalence of 1% to 4%, while FV Leiden is the most common variant with a frequency of 3-5% and 20-40% in patients with venous thromboembolic disease. Heterozygosity and homozygous mutation of FV increase the probability of thrombosis up to 10- and 100-fold, respectively1-4.
Hyris offers an distruptive approach of validating and integrating on its platform the best CE-IVD kits from reagent manufacturers on the market.
For the Thrombophilia kit, Hyris selected an innovative kit with the following features:
- CE-IVD marked
- Validated on whole blood and oral swab (dry)
- Validated in Real-Time qPCR on DNA samples
- Stevens, S. M. et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis 41, 154–164 (2016).
- Connors, J. M. Thrombophilia Testing and Venous Thrombosis. New England Journal of Medicine 377, 1177–1187 (2017).
- Arachchillage, D. J. et al. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol 198, 443–458 (2022).
- Colucci, G. & Tsakiris, D. A. Thrombophilia screening revisited: an issue of personalized medicine. J Thromb Thrombolysis 49, 618–629 (2020).
Thrombophilia Detection kit is a panel composed by four master mixes that identify the mutations in the genes FII, FV, MTHFR C677T and MTHFR A1298C.
The four master mixes can be sold separately.