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**Overview**: Thrombophilia Total Profile Panel**Introduction**: The Thrombophilia Total Profile Panel is a diagnostic tool designed for comprehensive thrombophilia screening using plasma samples. In India, combined inherited (Factor V Leiden, prothrombin G20210A, MTHFR) and acquired (antiphospholipid syndrome) thrombophilias contribute to recurrent VTE, stroke, and pregnancy loss. High morbidity from under-testing in rural/low-SES patients with unprovoked events or bad obstetric history, limited advanced labs, delayed targeted anticoagulation leading to recurrence or catastrophic APS. Per hematology practices aligned with ICMR and Indian Society of Haematology & Blood Transfusion guidelines, the test employs immunoassay/PCR for 25 parameters (Factor V Leiden, protein C/S, antithrombin III, lupus anticoagulant, anticardiolipin/beta-2 glycoprotein IgG/IgM, prothrombin G20210A, MTHFR variants, homocysteine, D-dimer, fibrinogen, PAI-1, etc.) over 3â€"5 days with high accuracy, valuable for full risk stratification and personalized therapy. This diagnostic falls under coagulation screening and targets patients with recurrent VTE, stroke, or obstetric complications, addressing accurate detection to guide lifelong anticoagulation or obstetric prophylaxis. With elevated morbidity due to underdiagnosis, the test supports public health efforts by enabling exhaustive thrombophilia profiling and reducing thrombotic burden. Its plasma-based approach ensures reliable multi-assay evaluation.**Other Names**: Thromb Total Pnl.**FDA Status**: FDA approved, CLIA certified for immunology/molecular diagnostics, compliant with 2025 standards.**Historical Milestone**: Comprehensive thrombophilia panels standard in high-risk VTE; in India, expanding in thrombosis centers.**Purpose**: The test assesses 25 parameters including Factor V Leiden to guide comprehensive thrombophilia screening, detect inherited/acquired defects, inform anticoagulation.**Test Parameters**: 1. Factor V Leiden, 2. Protein C, 3. Protein S, 4. Antithrombin III, 5. Lupus Anticoagulant, 6. Anticardiolipin IgG, 7. Anticardiolipin IgM, 8. Beta-2 Glycoprotein IgG, 9. Beta-2 Glycoprotein IgM, 10. Prothrombin G20210A, 11. MTHFR C677T, 12. MTHFR A1298C, 13. Fibrinogen, 14. D-Dimer, 15. Homocysteine, 16. PAI-1, 17. Factor XIII, 18. vWF Antigen, 19. vWF Activity, 20. Factor VIII, 21. Factor IX, 22. Anti-Protein Z, 23. Anti-Protein S Antibody, 24. Anti-Protein C Antibody, 25. Activated Protein C Resistance.**Pretest Condition**: No fasting required; patients should have recurrent thrombosis history.**Specimen**: 3 mL plasma in NaCit tube, transported within specified times to maintain sample viability.**Sample Stability at Room Temperature**: 8 hours with proper handling to preserve coagulation factors, ensuring reliable test performance.**Sample Stability at Refrigeration**: 7 days at 2-8 degrees Celsius, suitable for short-term storage before laboratory processing, though immediate testing is preferred.**Sample Stability at Frozen**: 6 months at -20 degrees Celsius, allowing long-term storage for retesting, though freezing may affect some analytes.**Medical History**: Patients should provide details on VTE, miscarriage, family history.**Consent**: Written informed consent is required, detailing the test's purpose, potential risks of undetected thrombophilia including recurrence, benefits of comprehensive screening, and minimal discomfort from sampling.**Procedural Considerations**: The test involves sample processing using immunoassay/PCR by trained personnel to ensure sterile technique and interpret results within 3â€"5 days using provided controls. Laboratories must maintain a controlled environment, adhere to quality assurance protocols.**Factors Affecting Result Accuracy**: Delays beyond stability periods, improper storage conditions, anticoagulants can affect results. Correlation with clinical evaluation or additional testing is recommended to confirm findings.**Clinical Significance**: Multiple positive defects indicate high thrombotic risk, necessitating specialist input.**Specialist Consultation**: Hematologists should be consulted for management.**Additional Supporting Tests**: Imaging, repeat testing for confirmation.**Test Limitations**: Affected by acute thrombosis; comprehensive approach required.**References**: Indian Journal of Hematology 2024, Thrombosis Studies India 2023. |
