TromboGene

Hereditary Thrombophilia

Thrombophilia is a hemostasis disorder with an increased risk for blood clot formation 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 established that hereditary thrombophilia may be caused by insufficient coagulation inhibition that results from:

• genetic alterations that result in a deficiency in natural coagulation inhibitors;
• genetic alterations that lead to an increased level/function of coagulation factors.

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, such as venous thromboembolism, stroke and myocardial infarction.

The use of genetic testing for hereditary thrombophilia can be considered in several clinical situations, including the following:

Evaluation of patients that are considered of high risk for thrombosis e.g. planned major surgery or estrogen use.

Evaluation of pregnancy in women with a personal history of venous thromboembolism or a first-degree relative with a high-risk inherited thrombophilia.

Evaluation of close relatives of patients with documented inherited thrombophilia, or with a clinical and family history that is consistent with an inherited thrombophilia.

Selected genes:

• Factor V Leiden (F5) and Prothrombin (F2) mutations are associated with coronary artery disease, stroke, pulmonary embolism, fetal loss and increased risk for thromboembolism in women under hormonal therapy.
• Protein C receptor mutations are associated with venous and arterial thromboembolism.
• Protein S mutations are associated with venous and arterial thromboembolism and fetal loss.
• Antithrombin mutations (SERPINC1) are associated with venous thromboembolism and cardiovascular disease.
• Fibrinogen beta chain (FGB) mutation may be a susceptibility factor for stroke, venous thrombosis and coronary artery disease if combined with other risk factors.

TromboGene Panel

TromboGene genetic test evaluates 15 genetic variants in 11 genes.

International Guidelines

Several international study groups recognize the value of the genetic test to determine the aetiology of hereditary thrombophilia.

• Guidelines from Scientific Societies and Working Groups for inherited thrombophilia;
• The French Consensus Guidelines for venous thromboembolic disease;
• The National Institute for Health and Clinical Excellence (NICE) for venous thromboembolic diseases.

Report

The TromboGene genetic report includes a section identified as “Practice Guidelines”. This section presents guidance from the “Anticoagulation Forum”,  taking into account:

• previous thrombotic events;
• family history;
• pregnancy;
• previous fetal loss;
• estrogen use.

Scientific studies