Factor V Leiden
Last updated: Wednesday, 31, March, 2004
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| Item | Process |
|---|---|
| Specimen | 5 mL blood in EDTA. |
| Method | PCR is used to amplify the segment of the Factor V molecule bearing the G1691A Factor V Leiden mutation. 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 ~ 5% of the Australian population. |
| 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, unless a familial thrombotic tendency has been established. |
| Interpretation | The presence of the mutation is associated with an increased risk of venous thrombosis, but not of arterial thrombosis. See Factor V Leiden mutation. |
| Reference | Seligsohn U et al. N Engl J Med 2001; 344: 1222-1231. |