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Article

Survey on current practice in thrombophilia testing: from phenotype to genotype. Communication from the SSC of the ISTH.

Journal of thrombosis and haemostasis : JTH - 1 Mar 2026

Van Laer Christine, Moore Gary W, Majumder Rinku, Corral Javier, Freson Kathleen, Ignjatovic Vera, Orlando Christelle

Abstract excerpt

Diagnosing inherited thrombophilia as the cause of venous thromboembolism is important for patient management. Deficiencies in antithrombin, protein C, and protein S are usually diagnosed by plasma-based assays. Genetic testing can confirm the congenital nature of these deficiencies. Factor V Leiden can be detected using activated protein C resistance assays, followed by or replaced by molecular confirmation,...

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Identifiers

PMID: 41238194
DOI: 10.1016/j.jtha.2025.10.032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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