Factor V Leiden and Prothrombin Gene Mutation
Department of Haematology
Notes
- For Factor V Leiden and Prothrombin mutation investigations as part of a full Thrombophilia screen, please see the Thrombophilia screen test page.
- This test is intended to detect Prothrombin (G20210A) and Factor V Leiden (G1691A) mutations as an aid to the diagnosis of individuals with suspected thrombophilia.
- The G20210A mutation in the Prothrombin (Factor II) gene is associated with increased levels of plasma Prothrombin. This mutation is present in 2% of the general population.
- The G1691A mutation in the Factor V gene (known as Factor V Leiden) causes Factor V resistence to cleavage and inactivation by Activated Protein C. This mutation is present in 5% of the general population.
- Test performed at GRH.
Sample Requirements
1 x 4ml EDTA sample
![EDTA with cap](https://www.gloshospitals.nhs.uk/media/images/EDTA_with_cap.width-800.jpg)
Sample Storage and Retention
- Pre analysis storage: do not store, send to laboratory within 2 hours.
- Sample retention by lab: Prior to analysis the sample will be frozen at between -15 and -40°C. After analysis, the sample will be retained for a further 24 hours at 2-10°C.
This test cannot usually be added on to a previous request as, unless the sample is frozen quickly, the DNA used for Factor V and Prothrombin gene PCR begins to degrade.
Turnaround Times
4 weeks