MTHFR Mutation Test | İstanbul Laboratuvarları

What is the MTHFR mutation test?

In MTHFR gene mutation, which is one of the hereditary thrombophilias (coagulation disorders), homocysteine level increases and a tendency to clot occurs as a result of mutation in the methylenetetrahydrofolate enzyme gene. The most common C677T mutation is seen. It is seen in 2-15% of societies. Hyperhomocysteinemia may also occur for reasons other than MTHFR gene mutation. In hyperhomocysteinemia, the tendency to both arterial and venous thrombosis increases.

Thermolable MTHFR and Hyperhomocysteinemia

High levels of the amino acid homocysteine are another independent risk factor for venous thrombosis that have been identified in recent years. There is a 2-3 fold increase in the risk of VTE in patients with hyperhomocysteinemia, which can constitute up to 5% of the population.

Common causes of hyperhomocysteinemia include inadequate intake of folate, vitamins B6 or B12, and inherited defects of cystathionine synthase or methylenetetrahydrofolate reductase (mthfr) enzymes that play a role in homocysteine metabolism.

While homocysteine measurements are applied in the examination of patients with arterial and venous thrombophilia, thermolabile-MTHFR mutation analysis, which is reported to be found in 5-15% of the normal population, is recommended in patients with pregnancy complications and in patients with hyperhomocysteinemia of unknown cause and their relatives.

In how many days MTHFR Mutation Test comes out:
The MTHFR Mutation Test is used with a blood sample. The reporting period of the test is between 15-20 days on average. For the test, hunger or satiety does not matter.