"The MTHFR enzyme is involved in the metabolism of folic acid (also known as vitamin B9). The resulting product of MTHFR's action is necessary for the conversion of homocysteine to methionine. A deficiency in this vitamin B9 can result in decreased methionine synthesis and hyperhomocysteinemia (accumulation of homocysteine in the blood), a risk factor for cardiovascular and cerebrovascular diseases, as well as other chronic diseases.
Regarding the C677T variant, individuals with the TT genotype have a significantly reduced efficiency of folic acid metabolism (10-20%), which translates into elevated plasma homocysteine levels and decreased levels of folic acid and vitamin B12. If the genotype is CT, they have a greater efficiency than the TT genotype, although reduced with respect to normal metabolism (65%). If the genotype is CC, they have normal metabolic activity.
Our test analyzes this variant using qPCR and High Resolution Melting.
Our service includes results reporting and genetic counseling (before and after)."
Delivery time
2 weeks
Sample
Blood, Saliva
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