Prothrombin gene mutation (G20210A) testing
Last updated: Wednesday, 11, March, 2009
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| 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. |