Predisposition to elevated homocysteine levels (folate cycle enzyme genes)

Homocysteine, being a necessary element in the formation of basic cellular components, exerts a toxic effect on the body in high concentrations (hyperhomocysteinemia). This phenomenon is associated with a disturbance in the stage of conversion of homocysteine into the amino acid methionine, during which accumulation of homocysteine occurs in the body. The inner lining of blood vessels is most at risk in such cases, and in pregnant women – the developing fetus. Especially critical is the frequently practiced prescription of methionine during pregnancy, which is converted into homocysteine and, due to genetic disorders, cannot be timely converted back into safe methionine - useful therapy becomes extremely dangerous for the normal course of pregnancy. Therefore, a genetic test for predisposition to elevated homocysteine levels is an important genetic analysis before prescribing methionine, and if disorders in the corresponding markers are detected, it allows timely replacement of methionine therapy with an appropriate diet. The analysis includes a molecular genetic study of enzyme genes, a change in the activity of which leads to an increase in the level of homocysteine in the blood.

The investigated genetic markers are: MTHFR (C677T), MTHFR (A1298C), MTRR (A66G), MTR (A2756G).

The examination results are issued with an interpretation by a geneticist.

Within 5 days. The specified time does not include the day of biomaterial collection