Abstract

To review the state of the art relating to laboratory testing for thrombophilia, as reflected by the medical literature and the consensus opinion of recognized experts in the field, and to make recommendations regarding laboratory testing (whom to test, when to test, what tests to perform, rationale for testing, and other issues) in the assessment of thrombotic risk in individual patients and their family members. Review of the medical literature (primarily from the last 10 years) and the experience and opinions of experts in the field were used as data sources. Participating authors evaluated the medical literature and prepared manuscripts with specific proposed recommendations. Drafts of all of the manuscripts were prepared and circulated to every participant in the College of American Pathologists Conference XXXVI: Diagnostic Issues in Thrombophilia prior to the conference. Each of the conclusions and associated recommendations was then presented for discussion. Recommendations were accepted if a consensus of 70% or more of the 27 experts attending the conference was reached. The results of the discussion were then used to revise the manuscripts and recommendations into final form. Consensus was reached on 179 recommendations, all of which are presented in articles in this issue of the Archives. Detailed discussion of the rationale for each of these recommendations is found in the text of the respective articles, along with citations to justify the level of evidence for the recommendations. This is an evolving area of research, and it is certain that further clinical studies will change many of the recommendations, cause some to be deleted, and add others in the future.

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