qPCR SNP Detection Kit
The PAI-1 gene responsible for the formation of a protein necessary in the dissolution of blood clots in the human body. Abnormalities in this gene lead to an increased risk of blockages in the blood vessels, which can lead to a heart attack, stroke, thrombosis and is especially dangerous during pregnancy as it can cause miscarriage.
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 are the symptoms of thrombophilia?
Symptoms of thrombophilia include: during deep vein thrombosis – calf pain when walking, swelling, tenderness, warmth; pulmonary embolism – shortness of breath, chest pain, cough, fainting, sometimes haemoptysis; cerebral venous thrombosis – headaches, nausea, vomiting, visual disturbances, limb paresis, convulsions, disturbances of consciousness.
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 In the course of the study, the polymorphism of the PAI-1 gene is analyzed. Mutation in PAI-1 gene results in an increased level of the PAI-1 protein in the blood, which is associated with an increased inhibition of the thrombolysis process.
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 the further diagnostic path. The test we offer is relatively quick, uncomplicated and does not require a lot of work.
Why is it worth doing a genetic test?
The test result will be especially useful for women planning pregnancy. 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 pre-eclampsia due to placental insufficiency.
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.