Thrombophilia - Basic Panel (Gene Mutations: F5, F2, MTHFR)

Thrombophilia is defined as a predisposition to thrombosis. Thrombosis is a pathological process where a blood clot forms within the blood vessel. When a clot forms in an artery, it is called arterial thrombosis; when it forms in a vein, it is called venous thrombosis. The most common site for venous thrombosis is the veins of the lower limbs and pelvis. Clots in the coronary artery can lead to heart attacks. Thrombosis may be hereditary or acquired.

Causes of Acquired Thrombophilia:

• Antiphospholipid syndrome
• Systemic lupus erythematosus
• Rheumatoid arthritis
• Dermatomyositis
• Infections and inflammatory conditions: ulcerative colitis, Crohn's disease
• Cancers and chemotherapy: leukemias, lymphomas, colorectal cancer, lung cancer

Causes of Hereditary Thrombophilia:

• Mutations in the Factor V gene (F5)
• Mutations in the Prothrombin gene (F2)
• Deficiencies in coagulation inhibitors due to gene mutations: antithrombin (SERPINC1 gene mutation), protein C (PROC gene mutation), and protein S (PROS1 gene mutation). Antithrombin (AT), protein C (PC), and protein S (PS) are endogenous inhibitors of the coagulation process.
• Polymorphisms in the Methylenetetrahydrofolate reductase gene (MTHFR)
• Polymorphisms in the Plasminogen Activator Inhibitor-1 gene (PAI1)

Most Common Symptoms of Thrombosis:

• Asymmetrically swollen limbs
• Cyanosis of the feet and lower legs
• Pain upon walking
• Pain and redness at the site of swelling
• Dilated blood vessels
• Accelerated heart rate
• Chest pain

Purpose of the Test:

Identification of mutations predisposing to thrombosis in the patient's genetic material. The test includes identifying mutations in the Factor V (F5) gene, mutations in the Prothrombin (F2) gene, and polymorphisms in the MTHFR gene.

These Mutations:

• Are the most common causes of hereditary thrombophilia
• Increase the risk of venous and arterial thrombosis, heart attacks, and strokes
• Contribute to cardiovascular diseases, including thromboembolic complications

In Pregnant Women:

• Increase the risk of recurrent miscarriages
• May lead to premature separation of the placenta
• May cause the development of preeclampsia
• May cause fetal growth restriction
• May result in intrauterine fetal death
• May lead to neural tube defects and cleft lip and palate in the fetus

Indications for Testing:

• Symptoms of thromboembolic disease
• Family history of thrombophilia
• Previous thrombotic events
• Planned surgery requiring long-term immobilization
• Recurrent miscarriages or stillbirths
• Use of hormonal contraception
• Use of hormone replacement therapy
• Thrombocytopenia
• Cancer
• Sedentary lifestyle
• Obesity
   

Method:

Real-time PCR

High test sensitivity – 99%
 

Sample Required:

EDTA blood

Oral swab

Instructions for sampling are included in the package.

Material Collection in Warsaw:

To arrange a pickup time for your shipment by a driver in Warsaw, please contact a BORLAMED employee by email or phone.

A laboratory employee will schedule a visit by our driver at the chosen time.

The material collection is free of charge.

You can also personally deliver the material for testing during the laboratory's working hours (Mon - Fri 9:00 AM - 5:00 PM).

Material Collection:

Schedule a pickup time for your shipment via courier or parcel locker – to do so, please contact a BORLAMED employee by email or phone. The laboratory employee will arrange for a courier or parcel locker and ask you to print the shipping label, which will be sent to your email address.

The material collection is free of charge.

In the case of genetic testing, it is necessary to complete a declaration of informed consent!