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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Factor V Leiden thrombophilia

*

* Not a rare disease

Other Names for this Disease

  • APC resistance, Leiden type
  • Hereditary resistance to activated protein C
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Your Question

What is the name of the test that would be used to diagnose this condition? Is there more than one test? Most importantly, how accurate is this test for both positive and negative results?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is factor V Leiden thrombophilia diagnosed?

No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition.[1] The APC (activated protein C) resistance assay, a coagulation screening test, measures the anticoagulant response to APC. This screening test has a sensitivity and specificity for factor V Leiden approaching 100%. The sensitivity of a test is a measure of the test's ability to detect a positive result when someone has the condition, while the specificity is a measure of the test's ability to identify negative results.Targeted mutation analysis (a type of DNA test) of the F5 gene for the Leiden mutation is considered definitive and has a mutation detection frequency of approximately 100%. This means that approximately all individuals who have the factor V Leiden mutation will be detected by this genetic test. It is generally recommended that individuals who test positive by another means should then have the DNA test both for confirmation and to distinguish heterozygotes (individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).[1]
Last updated: 7/13/2011

References
Other Names for this Disease
  • APC resistance, Leiden type
  • Hereditary resistance to activated protein C
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.