Research progress of genetic diagnosis for hereditary thrombophilia

Genetic cause of thrombosis is an important risk factor for the first thromboembolic event. At present, the etiology of thrombosis cannot be determined by routine clinical tests, and the examination of thrombosis tendency is still not clear, which leads to the failure of obtaining effective risk assessment of thrombosis in patients. Therefore, improving the screening content of hereditary thrombotic disease will be conducive to comprehensive evaluation of patient's prethrombotic state. With the development of gene sequencing technology, more and more attention has been paid to the role of gene diagnosis in thrombotic events. Genetic diagnosis in early stage for hereditary thrombophilia can not only enable the patients to get effective diagnosis and treatment, but also expand the sample data to study the pathogenic molecular mechanism. In this study, we reviewed the research progress of genetic detection technology, related pathogenic genes and functional characteristics and processes of genetic diagnosis for hereditary thrombophilia.