Detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. It is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood.
MTHFR (methylenetetrahydrofolate reductase). MTHFR is an abbreviation for a gene that codes for an enzyme called methylenetetrahydrofolate reductase. Mutations in the MTHFR gene are associated with thromboembolic and cardiovascular disease, which can lead to blood clots, stroke, embolism, and/or heart attacks. Two mutations of MTHFR are the most common. The MTHFR enzyme helps the body to manufacture proteins. Mutations in the MTHFR gene are associated with thromboembolic and cardiovascular disease, which can lead to blood clots, strokes, embolisms, and Useful For. Direct mutation analysis for the MTHFR C677T mutation should be reserved for patients with coronary artery disease, acute myocardial infarction, peripheral vascular artery disease, stroke, or venous thromboembolism who have increased basal homocysteine levels or an abnormal methionine-load test.  The MTHFR mutation test may sometimes be ordered when a person has elevated homocysteine levels, especially when the person has a personal or family history of premature cardiovascular disease or thrombosis. If a person has two copies (homozygous) of MTHFR C677T, or has one copy of C677T and one of A1298C, then it is likely that elevated homocysteine levels are due to these inherited mutations, or that the mutations are contributing to them. In addition, individuals with mutations in the MTHFR gene often have elevated levels of homocysteine in their blood. This is related to a deficiency of folic acid (folate or Vitamin B) and is connected to increased risk of cardiac events. The MTHFR enzyme helps the body to manufacture proteins. Mutations in the MTHFR gene are associated with thromboembolic and cardiovascular disease, which can lead to blood clots, strokes, embolisms, and heart attacks. Two mutations of MTHFR are the most common. The methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. If a person has two copies (homozygous) of MTHFR C677T, or has one copy of C677T and one of A1298C, then it is likely that elevated homocysteine levels are due to these inherited mutations, or that the mutations are contributing to them. Direct mutation analysis for the MTHFR C677T mutation should be reserved for patients with coronary artery disease, acute myocardial infarction, peripheral vascular artery disease, stroke, or venous thromboembolism who have increased basal homocysteine levels or an abnormal methionine-load test. In addition, the MTHFR gene mutation may not be present when hyperhomocysteinemia is due to acquired disorders, such as deficiency of vitamins B12, B6, or folic acid; chronic renal failure; zinc deficiency; leukemia; psoriasis; or antifolate drug therapy. 1 MTHFR variants are very common in the general population. 2  MTHFR variant C677T is considered a strong determinant of folate status in women of reproductive age 1 and has been associated with lower levels of red blood cell folate and elevated homocysteine. In summary. 1  Two copies of A1298C are not typically associated with increased homocysteine levels. If the MTHFR mutation test is negative, then the C677T and A1298C mutations were not detected and the tested person's elevated homocysteine level is likely due to another cause. Other, more rare MTHFR genetic mutations will not be detected with typical testing. If a person has two copies (homozygous) of MTHFR C677T, or has one copy of C677T and one of A1298C, then it is likely that elevated homocysteine levels are due to these inherited mutations, or that the mutations are contributing to them. Direct mutation analysis for the MTHFR A1298C mutation should be reserved for patients with coronary artery disease, acute myocardial infarction, peripheral vascular artery disease, stroke, or venous thromboembolism, who have increased basal homocysteine levels or an abnormal methionine-load test. MTHFR C677T). The MTHFR A1298C reduces MTHFR activity to a lesser extent than C677T, but compound heterozygous A1298C/C677T may develop hyperhomocysteinemia. Hyperhomocysteinemia is an independent risk factor for coronary artery disease, acute myocardial infarction, peripheral arterial disease, stroke, and venous thromboembolism.
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blood test for mthfr mutation