Congenital thrombophilia - what is it?
Congenital thrombophilia is the tendency to clot in our genes. Many patients are unaware that thrombophilia can affect him because it does not show any visible symptoms. The mutations / changes that cause it are most often a factor V Leiden mutation, a mutation in the prothrombin gene. The following are also frequently analyzed: PAI-1 / SERPINE1, V R2 and MTHFR (C677T and A1298C), which also, but in a milder way, increase the risk of thromboembolic diseases.
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Congenital thrombophilia test - when is it worth doing?
If:
you are after a thrombotic event or pulmonary embolism,
thromboembolism in the immediate family or the above-mentioned mutations,
you miscarried 2 or more times
you use hormonal contraception (according to the Recommendation of the Polish Gynecological Society, women with factor V Leiden mutations and the prothrombin gene should absolutely not use this form of contraception)
Why is it worth testing for congenital thrombophilia?
First of all, knowing if you have mutations associated with an increased risk of blood clots, you can implement appropriate preventive measures that will not further promote their formation, e.g. use an appropriate lifestyle. Additionally, if you have a burdened history (e.g. you are after a thromboembolic event), your doctor may recommend appropriate treatment for you, e.g. before trying for another pregnancy or a long flight - this way you can reduce the negative effects of the mutation.
How can I be tested for hereditary thrombophilia?
The sample for congenital thrombophilia is a smear on the inside of the cheek. You do not need to fast for the test. Importantly, this test is done only once in a lifetime - there is no need to repeat it because our genes do not change. It is worth knowing that congenital thrombophilia is hereditary, so information about whether we have any mutations is also a diagnostic clue for our closest family members. The result should always be consulted with a geneticist who will tell you what it means for the patient, and whether it is worthwhile to start appropriate treatment.
Price of the study for thrombophilia and implementation time
The study includes:
factor V Leiden mutation
mutation of the prothrombin gene
MTHFR (C677T and A1298C)
PAI-1 / SERPINE1
V R2
The delivery time with the package is 7-10 business days. The price of this package is PLN 347. If the patient wants the result in express mode (4-5 business days) and wants to consult a geneticist, he or she can choose the Premium Package for PLN 457.
