Genetic predisposition to hyperhomocysteinemia   Price 16,200 tenge

The folate cycle is a cascade of complex biochemical reactions that occur only in the presence of folic acid derivatives and B vitamins. Their deficiency associated with the characteristics of the diet, as well as mutations in the genes of folate metabolism, causing a decrease in enzyme activity, leads to an excessive accumulation of homocysteine (HC) in the blood and, consequently, disruption of methylation processes in cells.

Indications for administration of the analysis:

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  1. Cardiovascular diseases in relatives in the direct line, had myocardial infarction, ischemic stroke, deep vein thrombosis, pulmonary embolism under the age of 50 years.
  2. For the prevention of some congenital fetal abnormalities, such as cleft lip and cleft palate, spina bifida.
  3. A history of pregnancy complications in both the patient and her relatives in the direct line.
  4. Determination of the causes of high blood homocysteine levels.
  5. Pregnancy failure, fetal death in the second and third trimesters of pregnancy;

The genes under study:

  1. MTHFR (methyltetrahydrofolate reductase)
  2. MTR (methionine synthetase)
  3. MTRR (methionine synthase reductase)

METHIONINE REMETHYLATION SCHEME

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Analysis of homocysteine levels Price 2 200 tenge

Homocysteine - reference values:

  • In healthy adults, not more than 15 µg/L
  • In pregnant women no more than 8.3 µg/L

Pathogenic effects of high doses of homocysteine:

  1. Atherothrombotic lesion of the coronary arteries.
  2. Damage to the vascular endothelium.
  3. Methionine deficiency, and as a consequence, disorders of organogenesis (cleft lip, cleft palate, spina bifida, anencephaly, etc.) in newborns.
  4. Complications of pregnancy (gestosis, eclampsia, PONARP, ZVRP, early and late miscarriages, antenatal fetal death, stillbirths, etc.)

Therapeutic and prophylactic recommendations:

Once the presence of MTR, MTRR, MTHFR gene polymorphisms is established, it is recommended to monitor blood levels of Homocysteine. If levels are higher than normal, folic acid and Vit B6 and B12, which are involved in the metabolism of Homocysteine, should be taken.

Additional information: