Diagnosis of C677T mutation in MTHFR gene

• The test material is blood.
• The patient does not need to be fasting.About 30 minutes before the test, it is advisable to drink a glass of water or bitter(unsweetened) tea.

Samples brought from outside are not accepted for testing.

Hyperhomocysteinemia (MTHFR) / Thrombophilia / Diagnosis of causes of infertility
Unit description
MTHFR is a gene encoding methylenetetrahydrofolate reductase. This enzyme plays a key role in the metabolism of homocysteine, and a decrease in its activity can lead to hyperhomocysteinemia, an increase in the level of this amino acid in the blood.
Hyperhomocysteinemia is a risk factor for the development of cardiovascular diseases (venous thrombosis, myocardial infarction), reproductive disorders (recurrent miscarriages, stillbirths, neural tube defects in offspring) and the development of cancer, especially colon cancer and estrogen-dependent cancers. In addition, hyperhomocysteinemia accelerates the development of Alzheimer's disease.

Diagnosis of C677T mutation in MTHFR gene
Mutation in MTHFR gene is a genetic cause of hyperhomocysteinemia. The C677T mutation in the homozygous form is responsible for reducing the stability and activity of the MTHFR enzyme by 50%. In the Caucasian population, 5-10% of people are homozygotes for the 677C>T change. These individuals are predisposed to elevated blood homocysteine levels, especially with dietary folate deficiency. For this reason, the MTHFR gene mutation test is useful in identifying the genetic etiology for persistent hyperhomocysteinemia.
Indications for genetic testing:
- individuals with thromboembolic disease (especially atypical forms), after prior exclusion of antiphospholipid syndrome
- individuals with other thrombophilia risk factors, such as. factor V Leiden mutation, G20210A mutation in the prothrombin gene
- patients who have a family history of individuals with a confirmed C677T mutation in the MTHFR gene or hyperhomocysteinemia
- diagnosis of hyperhomocysteinemia - individuals with elevated serum homocysteine levels, especially with susceptibility to early coronary artery disease
- women with recurrent spontaneous miscarriages (10-20 weeks) or stillbirths, as well as after the fetus/baby has been diagnosed with neural tube defects or cleft lip/palate
- women with a history of pre-eclampsia
- patients with Parkinson's disease, before starting L-Dopa treatment

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