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Factor II Prothrombin G20210A Mutation, By PCR, Blood

Description

Prothrombin is the precursor of the serine protease thrombin, a key enzyme acting as a pro-coagulant, through platelet activation and the generation of fibrin and factors Va, VIIIa, and XIIIa, and subsequently as an anticoagulant, by activating circulating protein C. Therefore, regulation of thrombin activity is crucial for maintaining haemostatic balance. A variant of the prothrombin gene G20210A (a G to A substitution at position 20210) is associated with higher prothrombin levels and with an increased risk of venous thrombosis.

Indications

Individuals with inherited defects of coagulation, such as G20210A, are at increased risk for deep venous thrombosis and pulmonary thrombosis. Carriers of this mutation are at significantly increased risk for recurrent thromboembolic events. This risk is dramatically increased, up to 100%, in the case of combined G20201A and Factor V Leiden mutations.

Sample Type, Quantity & Conditions

2 ml EDTA Whole Blood Room Temperature

Special Precautions

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.

Normal Range

By Report

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