Thrombophilia is a hemostasis disorder with an increased risk of blood clots or thrombosis. There is a predisposition for thrombosis in veins or arteries due to abnormalities in blood composition, blood flow, or the vascular wall.
Results from various clinical and genetic studies [1, 2] established that hereditary thrombophilia may be caused by insufficient coagulation inhibition from:
10% of the world population can have hereditary thrombophilia.
Pulmonary embolism is the third cause of death.
Hereditary thrombophilia is one of the risk factors for fetal loss and recurrent miscarriage.
The use of oral contraceptives is a well established risk factor for venous thrombosis.
Venous thromboembolism is associated with acute myocardial infarction and stroke.
TromboGene Genetic Test
TromboGene is an evidence-based genetic test for hereditary thrombophilia from HeartGenetics. TromboGene evaluates the genetic risk for cardio and cerebrovascular diseases, venous thromboembolism, including deep venous thrombosis and pulmonary embolism.
The use of genetic testing for hereditary thrombophilia can be considered in several clinical situations, including the following:
TromboGene genetic test evaluates 15 genetic variants in 11 genes.
F2, F5, GP1BA, PROCR, PAI-1, MTHFR, PROS1, SERPINC1, F13A1, F12 and FGB.
International Medical Guidelines
Several international study groups recognize the value of the genetic test to determine the aetiology of hereditary thrombophilia [3,4,7,8,9,10].
The TromboGene genetic report includes a section identified as “Guideline Recommendations”. This section presents guidance from the “Anticoagulation Forum”, taking into account:
> previous thrombotic events;
> family history;
> previous fetal loss;
> estrogen use.
 J Genet Couns. 2007. 16(3):261-77.
 J Thromb Haemost. 2007. 5 Suppl 1:264-9.
 NICE. Clinical guideline 144. London: National Institute for Health and Clinical Excellence, 2012.
 Thromb Haemost. 2013. 110(4):697-705.
 Br J Haematol. 2008. 143(3):321-35.
 Hematology Am Soc Hematol Educ Program. 2005. 1-12.
 Int Angiol. 2005. 24(1):1-26.
 J Mal Vasc. 2009. 34(3):156-203.
 Genetic Testing for Inherited Thrombophilia (MP-2.253), 2014.
 J Thromb Thrombolysis. 2016 Jan;41(1):154-64. doi: 10.1007/s11239-015-1316-1.