Factor V Leiden

Last updated: Wednesday, 31, March, 2004

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Item Process
Specimen5 mL blood in EDTA.
MethodPCR 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.

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.

InterpretationThe presence of the mutation is associated with an increased risk of venous thrombosis, but not of arterial thrombosis.
See Factor V Leiden mutation.
ReferenceSeligsohn U et al. N Engl J Med 2001; 344: 1222-1231.