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S2E9 - When and how to perform thrombophilia testing

Presented by Audrey Carlo and Cécile Hourquet // Special guest François Depasse, Clinical Development Director at Stago

Season 2, episode 9
12 min / Published
By Stago

Welcome to Ask Stago, the Podcast dedicated to provide expert answers to your expert questions in coagulation

In today’s episode, our expert our expert François Depasse, Clinical development Director, will help us to clarify when thrombophilia testing is appropriate and how to perform it according to international standards.  

As usual, don’t forget to send any question you may have to ask@stago.com we will be glad to answer to it. 

Literature sources: 

  • https://www.cochranelibrary.com/advanced-search/mesh;jsessionid=DED8CB403679070FD38E81E38E5A7ECA accessed March 17, 2021 
  • Montagnana M, Lippi G, Danese E. An Overview of Thrombophilia and Associated Laboratory Testing. Methods Mol Biol. 2017;1646:113-135. doi: 10.1007/978-1-4939-7196-1_9. 
  • Merriman L, Greaves M. Testing for thrombophilia: an evidence-based approach. Postgrad Med J. 2006 Nov;82(973):699-704. doi: 10.1136/pgmj.2006.048090.  
  • Gruel Y et al, Thrombophilia testing: Proposals of the 2020 GFHT. Rev Francoph Hémost Thromb 2020 ; 2 (3) : 93-126 
  • Delluc A, Antic D, Lecumberri R, Ay C, Meyer G, Carrier M. Occult cancer screening in patients with venous thromboembolism: guidance from the SSC of the ISTH. J Thromb Haemost. 2017 Oct;15(10):2076-2079. doi: 10.1111/jth.13791. Epub 2017 Aug 29. Erratum in: J Thromb Haemost. 2017 Dec;15(12 ):2471. 
  • D'Astous J, Carrier M. Screening for Occult Cancer in Patients with Venous Thromboembolism. J Clin Med. 2020 Jul 27;9(8):2389. doi: 10.3390/jcm9082389 
  • Connors JM. Thrombophilia Testing and Venous Thrombosis. N Engl J Med. 2017 Sep 21;377(12):1177-1187. doi: 10.1056/NEJMra1700365. 
  • National Institute for Health and Care Excellence. Venous thromboembolic diseases: the management of venous thromboembolic diseases and the role of thrombophilia testing. NG 158, London 2020 
  • De Stefano V, Rossi E. Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups. Thromb Haemost. 2013 Oct;110(4):697-705. doi: 10.1160/TH13-01-0011. 
  • Moll, S. Who should be tested for thrombophilia?. Genet Med 13, 19–20 (2011). 
  • Cooper PC, Pavlova A, Moore GW, Hickey KP, Marlar RA. Recommendations for clinical laboratory testing for protein C deficiency, for the subcommittee on plasma coagulation inhibitors of the ISTH. J Thromb Haemost. 2020 Feb;18(2):271-277. doi: 10.1111/jth.14667.  
  • Marlar RA, Gausman JN, Tsuda H, Rollins-Raval MA, Brinkman HJM. Recommendations for clinical laboratory testing for protein S deficiency: Communication from the SSC committee plasma coagulation inhibitors of the ISTH. J Thromb Haemost. 2021 Jan;19(1):68-74. doi: 10.1111/jth.15109. 
  • Van Cott EM, Orlando C, Moore GW, Cooper PC, Meijer P, Marlar R; Subcommittee on Plasma Coagulation Inhibitors. Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH. J Thromb Haemost. 2020 Jan;18(1):17-22.  
  • Devreese KMJ, de Groot PG, de Laat B, Erkan D, Favaloro EJ, Mackie I, Martinuzzo M, Ortel TL, Pengo V, Rand JH, Tripodi A, Wahl D, Cohen H. Guidance from the Scientific and Standardization Committee for lupus anticoagulant/antiphospholipid antibodies of the International Society on Thrombosis and Haemostasis: Update of the guidelines for lupus anticoagulant detection and interpretation. J Thromb Haemost. 2020 Nov;18(11):2828-2839. doi: 10.1111/jth.15047. 
  • Sevenet PO, Cucini V, Hervé T, Depasse F, Carlo A, Contant G, Mathieu O. Evaluation of DOAC Filter, a new device to remove direct oral anticoagulants from plasma samples. Int J Lab Hematol. 2020 Oct;42(5):636-642. doi: 10.1111/ijlh.13267. 
  • Exner T, Michalopoulos N, Pearce J, Xavier R, Ahuja M. Simple method for removing DOACs from plasma samples. Thromb Res. 2018;163:117-122 

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Content is scientific and technical in nature. It is intended as an educational tool for laboratory professionals and topics discussed are not intended as recommendations or as commentary on appropriate clinical practice. 

  • coagulation
  • heamostasis
  • antithrombin
  • protein C
  • protein S
  • Factor V Leiden
  • Factor II G20210A
  • thrombophilia
  • ask stago
  • lab life
The show team
Cecile Hourquet
Cecile Hourquet
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