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Choosing Wisely: Factor V Leiden Mutation

Tomorrow, June 10, 2020, the American Board of Internal Medicine Foundation posts the following recommendation on their Choosing Wisely web site. This recommendation was submitted by the Choosing Wisely Committee of the American Society for Clinical Laboratory Science in collaboration with the American Society for Clinical Pathology. Please provide us with your opinion about this recommendation.

Don’t order a factor V Leiden (FVL) mutation assay as the initial test to identify a congenital cause for a thrombotic event. First, order a phenotypic activated protein C resistance (APCR) ratio assay.

Support: there exist several acquired APCR conditions such as elevated factor VIII and antibody-mediated APCR that can lead to thrombotic events such as deep venous thrombosis or pulmonary embolism. Further, several factor V Leiden-independent mutations may be associated with thrombosis. Best practice guidelines recommend testing for APCR using one of several phenotypic clot-based APCR ratio assays as an initial assay and following up positive APCR ratio results with the molecular factor V Leiden assay. Most currently available phenotypic tests are economical, have a greater than 95% concordance with molecular testing and up to 99% clinical sensitivity. Based on Medicare reimbursement rates, switching to initial-phase phenotypic testing and relying on its negative predictive value with follow-up genotypic testing on APCR-positive samples could result in a 75% reduction in costs. Although the FVL mutation assay is often ordered to determine the cause of venous thromboembolic disease, the APCR ratio assay provides greater clinical sensitivity at a lower cost. In instances when clot-based thrombosis risk testing is indicated during acute thrombosis, line-associated thrombosis, or anticoagulant therapy, the APCR is compromised and the FVL mutation assay is used as a primary assay.

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