Abstract
Thrombophilia is a complex disease process, clinically manifesting in various forms
of venous thromboembolism. Although both genetic and acquired (or environmental) risks
factors have been reported, the presence of a genetic defect (antithrombin [AT], protein
C [PC], protein S [PS]) is considered three of the major contributing factors of thrombophilia.
The presence of each of these risk factors can be established by clinical laboratory
analysis; however, the clinical provider and laboratory personnel must understand
the testing limitations and shortcomings associated with the assays for these factors
to be able to ensure an accurate diagnosis. This article will describe the major pre-analytical,
analytical, and post-analytical issues associated with the various types of assays
and discuss evidence-based algorithms for analyzing AT, PC, and PS in plasma.
Keywords
thrombophilia - thrombosis - assay - testing methods
