What is the genetic test for thrombophilias (TRB)?
The genetic test for thrombophilias (TRB) allows to study the predisposition to develop thrombophilia in a family member. Thrombophilia is, in turn, the predisposition to develop venous clots or thrombosis. Such thrombosis is the main cause of myocardial infarction, stroke and venous thromboembolism.
The ThromboInCode genetic test analyzes 7 genes associated with an increased risk of developing thrombophilias, with a 72% detection rate of genetic risk factors. Thus, this analysis improves thrombosis risk prediction compared to other diagnostic methods.
The genetic test for thrombophilias makes it possible to study the
possibility of thrombosis or blood coagulation.
What does it consist of?
The genetic test for thrombophilias (TRB) is usually performed from a saliva or blood sample, so it is not invasive. Once the sample is taken, it is sent to the laboratory, where the expression of markers involved in thrombophilias will be analyzed.
During the test, 11 genes and 15 different genetic variants related to the deficiency of natural coagulation inhibitors, with the synthesis of coagulation factors, will be analyzed.
Why is it performed?
Hereditary thrombophilias (TRB) are usually related to Vascular Thromboembolic Disease (VTE), Deep Vein Thrombosis (DVT), Pulmonary Embolism (PE) and Arterial Thrombosis (AT). All these diseases have a prevalence of 10% in the world, with a risk of thrombophilia in up to 50% of patients with a family history, being the main cause of fetal loss.
Thus, thrombophilia is the predisposition to develop thrombosis (or clots) in arteries and veins as a consequence of coagulation abnormalities. It is the leading cause of acute myocardial infarction, stroke and venous thromboembolism. In addition, it is estimated that 30% of complications in Gynecology and Obstetrics (repeated miscarriages and infertility) are due to hereditary thrombophilia. In fact, one in two women with venous thromboembolic disease (VTE) will have a blood clot during pregnancy.
The test makes it possible to analyze the genes and genetic influences on the transmission of thrombophilia, as well as to establish preventive measures if the result is positive (changes in lifestyle, adapting therapy, family planning…). It will also allow to know the risk level of the family or the individual.
The thrombophilia genetic test (TRB) is normally recommended in:
- Women with 2 or more miscarriages, who have suffered placental abruption, intrauterine growth retardation or fetal death, low implantation rate or preeclampsia.
- People with personal/family history of thrombosis.
- Women about to start contraceptive or hormone replacement therapy.
- People without VTE but with risk factors: prolonged sitting still, long trips, major surgeries, muscle and/or vessel injuries, chronic diseases, pregnancy, and smokers or obese people.
Preparation for the genetic test for thrombophilias (TRB)
No special preparation is necessary but it will be the specialist in Clinical Analysis, Hematology, Angiology and Vascular Surgery or Family Medicine who will explain to the patient what to do before the study.
What does it feel like during the test?
As a general rule, the patient will not notice anything during the test, since only a sample is taken in order to test for the possibility of developing thrombophilia.
Meaning of abnormal results
After the result of the genetic test the specialists will help the patient with a thorough genetic counseling and thus understand the results. If necessary, an analysis will be made with an anticoagulant drug that studies those genetic factors that influence the variability of response to this drug and thus improve the outcome of the therapy.