Thrombophilia - Expanded Panel (MTHFR + F2 + F5 + SERPINE-1)

Thrombophilia is defined as a predisposition to developing thrombosis. Thrombosis is a pathological process in which a blood clot forms within a blood vessel. When a clot forms in an artery, it is referred to as arterial thrombosis, and when it forms in a vein, it is called venous thrombosis. The most common sites of venous thrombosis are the veins in the lower limbs and pelvis. Clots forming in the coronary artery can lead to heart attacks. The predisposition to developing thrombosis can 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
• Cancer and chemotherapy: leukemia, lymphomas, colorectal cancer, lung cancer

Causes of Hereditary Thrombophilia:

• Mutations in the factor V gene (F5)
• Mutations in the factor II (prothrombin) gene (F2)
• Deficiency of coagulation inhibitors caused by mutations in the genes: 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 plasminogen activator inhibitor-1 (PAI1)

Most Common Symptoms of Thrombosis:

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

Purpose of the Test:

Identification of mutations in the patient's genetic material that predispose to thrombosis. The test includes identification of mutations in the Factor V gene (F5), Prothrombin gene (F2), and MTHFR gene polymorphism.

These mutations:

• Are the most common cause of hereditary thrombophilia
• Increase the risk of venous and arterial thrombosis, heart attack, stroke
• Are causes of cardiovascular diseases, including thromboembolic complications

In pregnant women:

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

Indications for the Test:

• Symptoms of thromboembolic disease
• Family history
• Past episodes of thrombosis
• Planned surgery involving prolonged immobilization
• Recurrent miscarriages or stillbirths
• Use of hormonal contraception
• Use of hormone replacement therapy
• Thrombocytopenia
• Cancer
• Sedentary lifestyle
• Obesity
   

Method:

Real-time PCR
High sensitivity of the test – 99%
 

Sample Material:

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!