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Study material: Venous blood
Response time (working day): 14
The test is done on an empty stomach: Yes
Home call service: YesIt is involved in the conversion of folate (vitamin B9) into its active form. The most commonly studied variants of this gene are C677T and A1298C, which may affect the activity of the enzyme.
C677T variant:
A1298C variant
It is important to note that The presence of an MTHFR variant does not in itself mean disease.The outcome should be evaluated taking into account homocysteine, folate, B12 levels, and the patient's clinical condition.
Study material: Venous blood
C677T and A1298C are the most common polymorphisms of this gene. Their presence does not in itself indicate disease and the results should be interpreted in conjunction with clinical data and, if necessary, homocysteine and folate levels.
MTHFR polymorphisms are very common. and is found in a significant portion of the population
The detection of the C677T and A1298C polymorphisms of the MTHFR gene is a common genetic feature and in most cases does not require treatment on its own. The results should be evaluated taking into account the patient's clinical condition and additional laboratory indicators.
MTHFR extension The gene synthesizes the enzyme methylene-tetrahydro-folate-reductase, which participates in the process of protein formation from amino acids. Its participation in the metabolism of folic acid is important, because the mirate form of folate is involved in the conversion of homocysteine to methionine. Methionine is an essential component for the formation of proteins and other compounds.
MTHFR extension Up to 40 gene mutations have been found in people with homocystinuria. Homocystinuria is a condition when the conversion process of homocysteine to methionine is disturbed. Such people often have: coagulation disorders, skeletal and nervous system development anomalies, damage to the organ of vision, retardation of mental development and others.
MTHFR extension The 2 most frequent gene mutations C677T and A1298C lead to a decrease in enzyme activity and are associated with the development of such pathologies as: homocystinuria, coagulation disorders, anencephaly, spina bifida and others.
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