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.
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.

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.