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912 Neural tube defects and embolic thrombosis – analysis of polymorphism of MTHFR gene (C677T and A1289C)

The gene MTHFR encodes enzyme necessary for the transformation reaction of potentially toxic amino acid homocysteine into methionine. Polymorphisms 677C>T and 1298A>C of MTHFR gene are connected with increased homocysteine concentration in blood. Homocysteine, as an amino-acid with reductive properties, may lead to damaging blood vessel endothelium.

Hypertrophy of muscular coat of vessels developing as a result of their damage leads to complications, such as: atheromatosis, arteriosclerosis and venous thrombosis. Hiperhomocysteinemis also has substantial impact for pregnant women. Embriotoxic influence consists in defecting the functions of vessel endothelium, which leads to problems with embryo implantation and defects in operations of fetal-placental unit.

Increased level of homocysteine is then closely connected with increased miscarriage risk, in particular in the first trimester of pregnancy. Deficiency of folians in the organism and reduced MTHFR activity in case of women with genotype T/T in position 677 may also increase the risk of neonatal defects of neural tube with the offspring. In case of identifying an optional gene influencing increased concentration of homocysteine, it is recommended to analyze the level of its concentration in blood and analyze concentration of folic acid. Supplementation with folic acid and certain B group vitamins is recommended due to their participation in homocysteine metabolism.

Test material: full blood (EDTA), cheek swab

Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)

Testing method:  Direct sequencing of respective gene’s fragments

Delivery date: up to 10 business days