Diagnosis of the C677T mutation in the MTHFR gene

• The material for testing is blood.
• The patient does not need to fast. It is recommended to drink a glass of water approximately 30 minutes before the examination.

Samples brought from outside are not accepted for testing.

Hyperhomocysteinemia (MTHFR) / Thrombophilia / Diagnosis of infertility causes
Unit description
MTHFR is the gene encoding methylenetetrahydrofolate reductase. This enzyme plays a key role in homocysteine ​​metabolism, and decreased activity can lead to hyperhomocysteinemia, or elevated levels of this amino acid in the blood.
Hyperhomocysteinemia is a risk factor for the development of cardiovascular disease (venous thrombosis, heart attack), reproductive disorders (recurrent miscarriages, stillbirths, neural tube defects in offspring), and cancer, particularly colon cancer and estrogen-dependent tumors. Furthermore, hyperhomocysteinemia accelerates the development of Alzheimer's disease.

Diagnosis of the C677T Mutation in the MTHFR Gene:
A mutation in the MTHFR gene is a genetic cause of hyperhomocysteinemia. The homozygous C677T mutation is responsible for a 50% reduction in the stability and activity of the MTHFR enzyme. In the Caucasian population, 5-10% of people are homozygous for the 677C>T mutation. These individuals are predisposed to elevated blood homocysteine ​​levels, especially with dietary folate deficiency. Therefore, testing for the MTHFR gene mutation is useful in identifying the genetic etiology of persistent hyperhomocysteinemia.
Indications for genetic testing:
• people with thromboembolic disease (especially atypical forms), after prior exclusion of antiphospholipid syndrome
• people with other thrombophilia risk factors, e.g. Factor V Leiden mutation, G20210A mutation in the prothrombin gene
• patients with a family history of confirmed C677T mutation in the MTHFR gene or hyperhomocysteinemia
• diagnosis of hyperhomocysteinemia – people with elevated serum homocysteine ​​levels, especially with a tendency to early coronary heart disease
• women with recurrent spontaneous abortions (10-20 weeks) or stillbirths, as well as after the diagnosis of neural tube defects or cleft lip/palate in the fetus/child
• women with a history of preeclampsia
• patients with Parkinson's disease, before starting L-Dopa treatment

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