qPCR SNP Detection Kit
The presence of the FVR2 mutation in the F5 gene which significantly increases the risk of thrombophilia. Clinically significant in individuals carrying the V Leiden mutation. Thrombophilia is a disease characterized by increased blood clotting and the formation of clots (most often venous). This disease can lead to a heart attack, stroke, thrombosis.
1 × Nuclease-Free Water
1 × 2xSNP MasterMix
1 × Oligos Set
1 × Positive Control Set
-25°C to -15°C
Did you know...?
Thrombophilia is a congenital (genetically determined) or acquired thromboembolic complications predisposition. The clots that form block the veins, obstructing blood circulation and ischemia. During the disease there is an increased risk of blood clots in the deep veins, mainly in the legs and arms. Pulmonary embolism is also possible. Thrombophilia also causes thrombus formation in the vessels of the abdominal cavity and the venous sinuses of the brain.
What is the course of thrombophilia in pregnant women?
Thrombophilia is a dangerous disease in pregnant women. Pregnancy is accompanied by hypercoagulation (an increase in blood clotting is the natural preparation of a woman’s body for childbirth), which may interact with thrombophilia as an additional risk factor. The presence of inherited thrombophilia is a risk factor for maternal thromboembolism and adverse pregnancy outcomes, including fetal loss in the second and third trimesters, placental abruption, severe intrauterine growth restriction, and early onset of severe preeclampsia due to vascular-placental insufficiency.
How the test is performed?
The test is based on the PCR method, which enables precise determination of the genotype and thus the risk of developing thrombophilia. Congenital thrombophilia is caused by genetic mutations, most often in the prothrombin gene (blood coagulation factor II) and factor V. In the course of the study, the polymorphism of the F5 gene is analyzed, also called R2 polymorphism. Coexistence of the R2 polymorphism rs1800595 with factor V Leiden rs6025 increases the risk for venous thrombosis approximately to a 16-fold increased risk.
How will the client benefit?
Interpretation of the obtained results, based on the IFU of the product included in the kit, allows for the preparation of a detailed report containing both the genotype description and recommendations indicating a further potential diagnostic path. The test we offer is relatively quick, uncomplicated and does not require a lot of lab work.
Why is it worth doing a genetic test?
The test result will be especially useful for women planning pregnancy. Genotype, where mutation is presence, determines the high risk of developing congenital thrombophilia and the occurrence of habitual miscarriages. Testing for congenital thrombophilia is recommended, especially after collecting a family history suggesting hypercoagulability problems among related individuals.
What can be done after the test result?
In the case of an unfavorable variant of the gene, it is important to follow the recommendations and consult a doctor. Awareness of the presence of the mutation, i.e. an increased risk of hypercoagulability, will allow for the rapid implementation of anticoagulant therapy and avoid serious complications in the future. It will also help a woman to properly prepare for pregnancy, and the doctor will properly guide her in order to avoid complications.