Prothrombin gene mutation (G20210A) testing

Last updated: Wednesday, 11, March, 2009

MBS Online Search Page: Click here for details

Item Process
Specimen

5 mL blood in EDTA.

Method

PCR is used to amplify the segment of the prothrombin molecule bearing the G20210A mutation, and the segment of DNA is then analysed for the presence of the mutation on one or both alleles using a variety of techniques.

Reference Interval

The mutation is detectable in ~ 2.7% of the population.

See Thrombophilia and Prothrombin gene mutation (PGM).

Application

Investigation of patients with venous thromboembolic disease and their relatives.

Because of its fairly common expression, the test is not otherwise indicated in individuals without any pre-disposing risk factors.

Interpretation

The presence of the mutation is associated with an increased risk of venous thrombosis, but not of arterial thrombosis.

Reference

Seligsohn U et al. N Engl J Med 2001; 344: 1222-1231.