MTHFR C677T Mutation

For the breakdown of homocysteine molecule (a component of the protein building block of human body), the vitamins B12, B6 and folate are needed to recycle the amino acids which are used again for protein synthesis. Another necessary recycling component is Methylentetrahydrofolate reductase enzyme. If there are inherited mutations in the gene of this enzyme, homocysteine starts to accumulate in blood.
Interpretation: Eleveted homocysteine are associated with the risk of cardiovascular diseases but it is not considered as a major risk factor. Elevated homocysteine levels are associated with an increased risk for blood clots in the veins. If clots occur in extemities, this causes deep vein thrombosis (DVT). If the clot occurs in lungs, this causes pulmonary embolism (PE). Elevated homocysteine levels causes pregnancy complications including prreclampsia, placental abruption (placenta detaches from uterus) and recurrent pregnancy loss. Elevated homoysteine levels are also common in fetal neural tube defects
Sample: Arm vein plasma(EDTA). Nonfasting
Working day: Everyday
Result Time: 2 weeks 6:00 PM