Jump to ContentJump to Main Navigation

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

14 Issues per year

IMPACT FACTOR 2014: 2.707
Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2014: 0.741
Source Normalized Impact per Paper (SNIP) 2014: 1.011
Impact per Publication (IPP) 2014: 2.310



Diagnostic algorithm for thrombophilia screening

1Department of Laboratory Coagulation, University Department of Chemistry, Medical School University Hospital Sestre Milosrdnice, Zagreb, Croatia

Corresponding author: Sandra Margetic, M.Sc., Department of Laboratory Coagulation, University Department of Chemistry, Medical School University Hospital Sestre Milosrdnice, Vinogradska 29, 10000 Zagreb, Croatia Phone: +385 1 3787 115, Fax: +385 1 3768 280

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 48, Pages S27–S39, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2010.362, November 2010

Publication History

Published Online:


Thrombophilia screening is aimed at detecting the most frequent and well-defined causes of venous thrombosis, such as activated protein C resistance/factor V Leiden mutation, prothrombin G20210A gene mutation, deficiencies of natural anticoagulants, such as antithrombin, protein C and protein S, the presence of antiphospholipid antibodies, hyperhomocysteinemia and increased factor VIII activity. At this time, thrombophilia screening is not recommended for those possible congenital or acquired risk factors, whose association with increased risk of thrombosis has not been proven sufficiently. Laboratory investigations should include a step-wise approach to the diagnosis of thrombotic disorders with respect to the assays and methods of analysis that are used. The assays recommended for the first diagnostic step of screening should establish, whether the subject has one of the common causes of thrombophilia. If one or more abnormal results are obtained, the second diagnostic step includes the assays recommended for confirmation and/or characterization of the defect. When performing the investigation of thrombophilia, it is important to consider all pre-analytical and other variables that may affect the results of thrombophilia testing, including time of testing, age, gender, liver function, hormonal status, pregnancy or the acute phase response to inflammatory diseases. This is necessary, in order to avoid, any misinterpretation of the results. This review summarizes the current knowledge concerning thrombophilia investigations, with special focus on the diagnostic algorithm regarding patient selection, the assays and methods of analysis used and all the variables that should be considered when employing tests for the diagnosis of thrombophilia.

Clin Chem Lab Med 2010;48:S27–39.

Keywords: diagnostic algorithm; laboratory investigation; risk factors; thrombophilia; venous thromboembolism

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

T. W. Smith, D. Pi, M. Hudoba, and A. Y. Y. Lee
Journal of Clinical Pathology, 2014, Volume 67, Number 4, Page 345
Sun Young Cho, Tae Sung Park, Hee Joo Lee, Woo-In Lee, and Jin-Tae Suh
Clinical Chemistry and Laboratory Medicine, 2011, Volume 49, Number 11

Comments (0)

Please log in or register to comment.