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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

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

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