Thrombophilia – MTHFR Gene Polymorphisms

Thrombophilia refers to a predisposition to developing thrombosis, which is a pathological process involving the formation of a blood clot within a blood vessel. When the clot forms in an artery, it is known as arterial thrombosis; when it forms in a vein, it is called venous thrombosis. The most common sites for venous thrombosis are the veins of the lower limbs and pelvis. Clots in the coronary artery can lead to heart attacks. Thrombosis may be inherited 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: leukemia, lymphoma, colorectal cancer, lung cancer

Causes of Inherited Thrombophilia:

• Factor V (F5) gene mutations
• Prothrombin (F2) gene mutations
• Deficiency of coagulation inhibitors caused by 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 MTHFR (methylenetetrahydrofolate reductase) gene
• Polymorphisms in the PAI-1 (plasminogen activator inhibitor-1) gene

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
• Rapid heartbeat
• Chest pain

Purpose of the Test:

Identification of MTHFR gene polymorphisms in the patient's genetic material. This polymorphism:

• Leads to the development of hyperhomocysteinemia, which increases the risk of atherosclerosis and thrombosis
• Is one of the causes of cardiovascular diseases, including thromboembolic complications

In pregnant women, specific MTHFR gene polymorphic forms:

• 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 Testing:

• Symptoms of thromboembolic disease
• Family history of thrombophilia
• Previous thrombotic episodes
• Surgical procedures requiring prolonged immobilization
• Recurrent miscarriages or stillbirths
• Use of hormonal contraception
• Hormone replacement therapy
• Thrombocytopenia
• Cancer
• Sedentary lifestyle
• Obesity
   

Method:

Real-time PCR

High sensitivity of the test – 99%

Sample for Testing:

EDTA blood

Oral swab
 

Turnaround Time:

Up to 7 business days

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!