Hipercoagulability

Factor V Leiden - Factor II 20210 - MTHFR

Hypercoagulable disorders are disorders, hereditary or acquired, increasing the risk of excessive or inappropriate formation of thrombi (blood clots in blood vessels), and appear when you alter the regulation of coagulation process. Thrombi are highly risky because they may obstruct ciruclación favoring the emergence of other disorders such as venous thrombosis, strokes, heart attacks and strokes.

Factor V Leiden
Factor V (FV) is a protein involved in blood clotting cascade and is encoded by the F5 gene, located on chromosome 1. Known as the Leiden mutation (Factor V Leiden) causes a substitution at amino acid 506 (Arg506Glu). This position is one of the sites of cleavage of Factor 5 normal and activated protein C substitution results in a loss of anticoagulant effect of activated FV. This condition is associated with an increased risk of venous thrombosis, being present in 20% of total cases and 50% of patients who have family history of thrombosis.
Our service allows detrminar the presence or absence of the Leiden mutation on chromosome 1 by real time PCR.

 

Factor II 20210
Factor II (prothrombin Virus) is a protein in the blood coagulation cascade. The gene that codes are located on chromosome 11, and 20210G-A mutation in the gene causes a gain of function along with increased levels of the protein. The presence of this mutation is a risk factor for thrombosis, which is even greater if the change is presented along with the Factor V Leiden.
Our service allows the presence or absence of this polymorphism on time through real-time PCR.

MTHFR
Our service allows you to analyze the presence of two specific polymorphisms of the gene encoding for methyl-tetrahydrofolate reductase enzyme, located on chromosome 1 (MTHFR C677T and MTHFR A1298C). The mutation called C677T resulting in an amino acid change in the enzyme, producing a thermolabile version that has less activity, which influences the serum levels of homocysteine, increasing the thrombotic risk.
Another polymorphism, A1298C called, generates a substitution of alanine by a glutamate in the enzyme, decreasing the activity of the same and also increasing the thrombotic risk.