Diagnosing thrombophilia: the case for genetic or functional testing?

Authors: Favaloro, EJ; Moore, GW; Pasalic, L

Affiliations: Westmead Hosp, Inst Clin Pathol & Med Res, Sydney Ctr Thrombosis & Haemostasis, Dept Haematol,NSW Hlth Pathol, Westmead, NSW, Australia; Westmead Hosp, Sydney Ctr Thrombosis & Haemostasis, Res & Educ Network, Westmead, NSW, Australia; Charles Sturt Univ, Fac Sci & Hlth, Wagga Wagga, NSW 2678, Australia; Sydney, Westmead Hosp, Sch Med Sci, Fac Med & Hlth, Westmead, NSW, Australia; Cambridge Univ Hosp NHS Fdn Trust, Cambridge Haemophilia & Thrombophilia Ctr, Specialist Haemostasis Lab, Cambridge, England; Middlesex Univ, Dept Nat Sci, London, England; Univ Sydney, Westmead Clin Sch, Westmead, NSW, Australia.

Publication: Expert Review of Molecular Diagnostics; 2025

ABSTRACT: 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) [Citation1]. 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.