Coagulation
Coagulation factors and inherited thrombophilia: the role of genetic diagnostics
Coagulation disorders alter the balance between the formation and dissolution of blood clots. In some people, specific genetic variants increase the predisposition to venous thrombosis, a condition known as inherited thrombophilia. Their identification can provide useful information for assessing individual risk, together with the clinical history and other predisposing factors. Clot formation is a physiological process that stops bleeding.
When this balance is altered, clots can form that obstruct blood flow and cause events such as deep vein thrombosis and pulmonary embolism. The risk also depends on non-genetic factors, including surgery, prolonged immobilization, pregnancy and certain hormonal therapies. The presence of a genetic variant does not, on its own, mean that thrombosis will occur.
Explore solutions for the analysis of coagulation factors
Browse the products available for the identification of genetic variants associated with coagulation factors. Nuclear Laser Medicine solutions allow laboratories to choose the tests best suited to the targets to be analyzed and to their operational needs.
Genetic variants and molecular analysis
Molecular diagnostics makes it possible to search for specific variants in the genes involved in coagulation. The analysis helps characterize a possible hereditary predisposition, but the result must be interpreted together with the patient’s clinical history and other risk factors.
<p>The genetic variants considered in the evaluation of inherited thrombophilia include:</p>
<ul>
<li>Factor V Leiden (F5 gene): associated with an increased predisposition to venous thrombosis;</li>
<li>prothrombin G20210A variant (F2 gene): associated with an increased risk of venous thrombosis.</li>
</ul>
<p>Nuclear Laser Medicine offers tests for the identification of these variants and products that also analyze other genes, including MTHFR. However, the common MTHFR variants are not considered a useful indicator for evaluating inherited thrombophilia: any result for them should not be equated with that of the F5 and F2 variants.</p>
The role of tests in patient evaluation
<p>Genetic testing may be considered in specific clinical situations, for example after certain thrombotic events or in the presence of a relevant family history. The decision to perform the test lies with the specialist, who evaluates whether the result could have a concrete impact on clinical decisions. The genetic information is then interpreted together with the patient’s history, laboratory tests and any acquired risk factors.</p>
Solutions for the analysis of coagulation factors
Molecular diagnostic technologies allow laboratories to identify the variants investigated by the individual tests. Explore the Nuclear Laser Medicine products dedicated to coagulation factors and contact us for information on the targets analyzed and on the solutions best suited to your laboratory’s needs.