Laboratory testing issues for protein C, protein S, and antithrombin

Area of Science:

• Clinical laboratory science
• Hematology
• Genetic diagnostics

Background:

• Thrombophilia is a complex condition often manifesting as venous thrombosis.
• Genetic defects in protein C (PC), protein S (PS), and antithrombin (AT) are key contributors to thrombophilia.
• Accurate diagnosis relies on clinical laboratory assays for these components.

Purpose of the Study:

• To review major analytical issues in laboratory assays for PC, PS, and AT.
• To provide recommendations for accurate assaying of PC, PS, and AT in plasma.
• To address pre-analytical and post-analytical factors influencing these assays.

Main Methods:

• Literature review focusing on analytical challenges in thrombophilia testing.
• Analysis of common problems encountered in plasma assays for PC, PS, and AT.
• Synthesis of recommendations for assay validation and implementation.

Main Results:

• Identified significant analytical interferences and limitations in current PC, PS, and AT assays.
• Highlighted the impact of pre-analytical (e.g., sample collection) and post-analytical (e.g., result interpretation) factors.
• Provided evidence-based recommendations for improving assay accuracy and reliability.

Conclusions:

• Accurate assessment of thrombophilia requires a thorough understanding of assay limitations.
• Standardized protocols and awareness of pre- and post-analytical variables are essential for reliable genetic testing.
• Improved assay methodologies and quality control are critical for patient management.