Thrombophilia Genetic Testing

Thrombophilia is easily overlooked?

Thrombophilia is easily overlooked?

Thrombus is a blood clot formed in a blood vessel. When the blood clot gets bigger and bigger, it will block the blood vessel and cause thrombophilia.

There are many reasons to cause thrombophilia. Genetic mutation is a risk factor for congenital (hereditary) thrombophilia. People with related gene mutations will increase the risk of thrombophilia by 80 times.

Every year 10,000,000 people worldwide suffer from thrombophilia. According to statistics from the World Health Organization (WHO), thrombophilia is one of the major causes of cardiovascular and cerebrovascular diseases. The death toll caused by cardiovascular and cerebrovascular diseases is even higher than the death rate of cancer, and it can be called the number one killer of human health.

What are the dangers caused by the risk of thrombophilia?

Increase the risk of cardiovascular and cerebrovascular diseases, such as stroke, coronary heart disease, and sudden death
Increase the risk of adverse pregnancy outcomes, such as stillbirth, miscarriage, fetal growth restriction, pre-eclampsia and placental abruption
Increase the risk of inertial miscarriage

Who should consider the test?

People who are worried about blood clots
Smoking
Obesity
Over 40 years old
Have family history of genetic factors or cardiovascular disease

This test should be carried out in the following situations:

Pangenia provides Thrombophilia Genetic Testing

Test Specifications

Test Code Methodology Specimen Requirements Turnaround Time
GTR Sanger sequencing 6ml blood in EDTA tube 5 working days
Please email at info@pangenialife.com or reach us at +852 3989 6160 for details.

Reference

  1. 1. White RH. The epidemiology of venous thromboembolism. Circulation. 2003;107(23 suppl 1):I4-I8.
  2. 2. https://www.cdc.gov/ncbddd/dvt/data.html US CDC, Data and Statistics on Venous Thromboembolism.
  3. 3. Liew NC, Alemany GV, Angchaisuksiri P, Bang SM, Choi G, De Silva DA, et al. Asian venous thromboembolism guidelines: updated recommendations for the prevention of venous thromboembolism. Int Angiol 2017;36:1-20. DOI: 10.23736/S0392-9590.16.03765-2
  4. 4. Lee LH, Gallus A, Jindal R, Wang C, Wu CC. Incidence of Venous Thromboembolism in Asian Populations: A Systematic Review. Thromb Haemost. 2017 Dec;117(12):2243-2260. doi: 10.1160/TH17-02-0134. Epub 2017 Dec 6. PMID: 29212112
  5. 5. De Stefano V, Leone G (1995). "Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia". Haematologica. 80(4): 344–56. PMID 7590506.
  6. 6. Poort, Swibertus R, Rosendaal, Frits R, Reitsma, Pieter H, & Bertina, Rogier M. (1996). A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood, 88(10), 3698-3703.
  7. 7. Frosst, Phyllis, Blom, Henk J, Milos, R, Goyette, Philippe, Sheppard, Christal A, Matthews, Rowena G, . . . Van Den Heuvel, LP. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
  8. 8. Den Heijer, M, Lewington, S, & Clarke, R. (2005). Homocysteine, MTHFR and risk of venous thrombosis: a meta‐analysis of published epidemiological studies. Journal of Thrombosis and Haemostasis, 3(2), 292-299.
  9. 9. Andreassi, M. G., Botto, N., & Maffei, S. (2006). Factor V Leiden, prothrombin G20210A substitution and hormone therapy: indications for molecular screening. Clinical Chemical Laboratory Medicine, 44(5), 514-521.
  10. 10. Wulf, G. M., Van Deerlin, V. M. D., Leonard, D. G. B., & Bauer, K. A. (1999). Thrombosis in a patient with combined homozygosity for the factor V Leiden mutation and a mutation in the 3'-untranslated region of the prothrombin gene. Blood coagulation & fibrinolysis, 10(2), 107-110.
  11. 11. van der Put, N. M., Gabreëls, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J., Eskes, T. K., ... & Blom, H. J. (1998). A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. The American Journal of Human Genetics, 62(5), 1044-1051
  12. 12. Previtali, E., Bucciarelli, P., Passamonti, S. M., & Martinelli, I. (2011). Risk factors for venous and arterial thrombosis. Blood Transfus, 9(2), 120-138.
  13. 13. Rabe, T., Luxembourg, B., Ludwig, M., Dinger, J. C., Bauersachs, R., Rott, H., ... & Albring, C. (2011). Contraception and Thrombophilia-A statement from the German Society of Gynecological Endocrinology and Reproductive Medicine (DGGEF e. V.) and the Professional Association of the German Gynaecologists (BVF e. V.). Journal für Reproduktionsmedizin und Endokrinologie-Journal of Reproductive Medicine and Endocrinology, 8(1), 178-218.