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Editorial: Thrombophilia Diagnosis–Genetic or Functional Testing

Check with your medical library for Favaloro EJ, Moore GW, Pasalic L. Diagnosing thrombophilia: the case for genetic or functional testing? Expert Rev Mol Diagn. 2025:1-6. doi: 10.1080/14737159.2025.2588621. PMID: 41211955.

Introduction

The term thrombophilia defines a condition in which there is an elevated risk of thrombosis, usually venous thromboembolism (VTE), generally encompassing deep vein thrombosis (DVT) and/or pulmonary embolism (PE). There are various risk factors for thrombosis, including both acquired and congenital disorders. It is possible to detect some of these conditions with laboratory markers, either by assessing for levels or deficiencies with phenotypic assays or by performing genetic analysis. We provide a brief overview of the benefits and limitations of these approaches.

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