الوصف
Methylenetetrahydrofolate reductase (MTHFR) polymorphism testing is frequently ordered by physicians as part of the clinical for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increaswd risk for venous thromboembolism, coronary heart disease, and recurrent pregnany loss. The MTHFR A1298C variant is a common genetic variation in the MTHFR gene, where the DNA base adenine (A) at position 1298 is replaced by cytosine (C). This mutation, along with the more well-known C677T variant, can affect the activity of the MTHFR enzyme, which plays a role in folate metabolism. While the A1298C variant is less impactful than C677T, it can still influence enzyme activity and potentially affect health outcomes, particularly in combination with other factors.
دواعي الإستعمال
In general, the following genotypes currently appear unlikely to be of clinical significance:“thermolabile” variant c.655C→T heterozygote, c.1298A→C homozygote, or compound heterozygote. There is rare individuals with triple variant MTHFR genotypes (i.e., individuals who are homozygous for one variant and heterozygous for the other) may have resulting clinical risks, although that is currently speculative.
نوع العينة والكمية والشروط
2 ml EDTA Whole Blood Room Temperature
إحتياطات خاصة
Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.
المعدل الطبيعي
سلبي (Negative)