第V因子（ライデン）/第II因子/ MTHFR

Clinical information

Genetic risk factors are responsible for more than half of thromboembolic cases, particularly if the disease occurs before the age of 45 and without any obvious external factors or at untypical localisations. The most important and most frequent genetic risk factors for thrombosis/embolisms are the factor V Leiden and the factor II 20210G>A mutations. Moreover, two polymorphisms in the gene of the methylene tetrahydrofolate reductase (MTHFR) are associated with an increase in homocysteine levels (hyperhomocysteinaemia), which is also considered a risk factor for thrombosis.

Diagnostics

The EUROArray FV / FII+ / MTHFR Direct is specifically optimised for reliable determination of the most important genetic risk factors for thrombosis and is extremely easy to perform. The direct method enables the direct use of whole blood samples and eliminates the need for time and cost-intensive DNA isolation. The PCR primers and microarray probes are selected such that the mutations factor V Leiden (1691G>A), factor II (prothrombin) 20210G>A, MTHFR 677C>T and 1298A>C can be reliably detected. With the EUROArray FV / FII+ / MTHFR Direct, highest reliability of results is ensured also for rare genotypes. For this cause, the test system contains unique controls that show if there are further known mutations in the DNA in direct vicinity to the sequence variants which may interfere with the binding to the probes and thus affect the determination.

For the determination of the FV Leiden and the FII-20210G>A mutations and the polymorphisms 677C>T and 1298A>C in the MTHFR gene, different EUROArray test systems are available, so that the determination can be performed separately or in one test, according to the customer’s requirements.