Value of mutation detection and of the activated protein C resistance assay in inherited thrombophilia

Haute Autorite de sante/French National Authority for Health
Record ID 32007000401
Authors' objectives:

To assess the diagnostic value of these tests in order to advise French National Health Insurance (NHI) on reimbursement.

Authors' results and conclusions: We selected 5 studies on the diagnostic performance of the APCr test (2155 patients), 7 guidelines on mutation testing and 1 impact study. We found no study of the direct impact of testing on morbidity and mortality. The sensitivity of the APCr test was 100%; its specificity was 68-100%. In 3 studies, the positivity threshold was defined post hoc for 100% sensitivity. According to the working group, the diagnostic performance of marketed APCr tests is variable. In clinical practice, mutation detection either replaces or follows the APCr test. The indications for mutation testing are: (i) in men and women under 50: unexplained or recurrent deep vein thrombosis or pulmonary embolism, (ii) in pregnant women: an episode of venous thrombosis, or a personal or proven family history of venous thrombosis.
Authors' recommendations: In the opinion of HAS, mutation testing should replace the APCr test. Both genetic tests should be reimbursed by NHI. Further research/reviews required: additional data on benefits and risks; a list of the APC resistance tests with good diagnostic performance.
Authors' methods: Review
Project Status: Completed
URL for project:
Year Published: 2007
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: France
MeSH Terms
  • DNA Mutational Analysis
  • Thrombophilia
Organisation Name: Haute Autorité de Santé
Contact Address: 2 avenue du Stade de France, 93218 Saint-Denis La Plaine Cedex, France. Tel: +33 01 55 93 71 88; Fax: +33 01 55 93 74 35;
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Copyright: Haute Autorite de sante/French National Authority for Health (HAS)
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