What is analysed?

Factor V Leiden mutation is a genetic variant of the factor V protein that increases the risk of developing blood clots, associated with a condition known as venous thromboembolism.

Prothrombin G20210A mutation is also a genetic variant of prothrombin that increases the risk of developing blood clots, associated with venous thromboembolism.

The factor V Leiden mutation and PT 20210 mutation test is used to detect the presence of factor V Leiden and PT 20210, and whether there are also alterations. The mutations are individual mutations, and so are tested separately.

What does the result mean?

The result indicates the presence or absence of factor V Leiden and PT 20210.

Why conduct the analysis?

The test is conducted to determine whether a patient has factor V Leiden or PT 20210.

When to conduct the analysis?

The test is conducted in various clinical scenarios:

• For patients who have a strong family history of thrombosis linked to factor V Leiden and PT 20210.
• For patients who have unexplained thrombosis.

What sample is required?

A blood sample is required. The blood is drawn from a vein, usually in the arm.

Is any prior preparation necessary?

No prior preparation is necessary.

How is it performed?

The sample is sent to a laboratory, where it is analysed using molecular techniques such as polymerase chain reaction (PCR) or DNA sequencing to identify genetic variations associated with factor V Leiden and PT 20210 mutations.

What are the normal values?

A negative test result indicates that no factor V Leiden and PT 20210 mutations were detected.

What does having altered values mean?

• Positive result for factor V Leiden: Indicates the presence of factor V Leiden mutation, which increases the risk of abnormal blood clotting and venous thromboembolism.
• Positive result for PT 20210: Indicates the presence of PT 20210 mutation, which increases the risk of abnormal blood clotting and venous thromboembolism.