Predisposition

Factor V Leiden                 
Determines the presence of Leiden mutation on chromosome 1. This creates a replacement mutation in coagulation factor V to determine its resistance to inactivation by the PCA (Activated Protein C). This condition is associated with an increased risk of venous thrombosis.

Factor II 20210
The kit identifies the presence of the G20210A mutation in the gene encoding for prothrombin (factor II). This mutation is associated with high plasmtic levels of prothrombin and costitute a risk factor for thrombosis.

   MTHFR
The kit analizes the presence of two polymorphisms in the gene encoding for the methylene-tetrahydrofolate reductase enzyme, located on chromosome 1. The C677T mutation  results in an amino acid substitution in the enzyme which produces a thermoilabile version with reduced activity, increasing the thrombotic risk.
A second polymorphism in the MTHFR gene, known as A1298C, also decreases the activity of this enzyme.

   CYP 2C9
CYP2C9 is responsible for the oxidative metabolism of several drugs, including some antagonist of the angiotensin II receptor, NSAIs, warfarin, fluoxetine, and some tricyclic antidepressants. The gene encoding this enzyme may present the normal allele (CYP2C9 * 1), or two polymorphisms (CYP2C9 * 2 and CYP2C9 * 3), which cause a reduction in the enzyme's activity.
Our kit detects both polymorphisms, helping to identify those patients that may require dose adjustment or drug substitution.