Methylenetetrahydrofolate Reductase MTHFR – 2 Variants C677T A1298C Test
Test Cost: AED 1200.0
Symptoms, Diagnosis, and Test Details
Methylenetetrahydrofolate Reductase (MTHFR – 2 Variants C677T, A1298C) is a genetic test that can be done with a doctor’s prescription. It is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial role in the metabolism of folate, a B vitamin. It converts the inactive form of folate (5,10-methylenetetrahydrofolate) into its active form (5-methyltetrahydrofolate), which is necessary for various biochemical reactions in the body.
There are two common genetic variants of the MTHFR gene that have been extensively studied: C677T and A1298C. The C677T variant involves a substitution of cytosine (C) with thymine (T) at position 677 of the MTHFR gene. This change leads to a reduction in the activity of the MTHFR enzyme, resulting in decreased conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Individuals with the C677T variant may have lower levels of active folate and higher levels of homocysteine, which is associated with increased risk of cardiovascular disease.
The A1298C variant involves a substitution of adenine (A) with cytosine (C) at position 1298 of the MTHFR gene. This variant also leads to reduced MTHFR activity and impaired folate metabolism, although the exact mechanisms are not fully understood. Some studies suggest that the A1298C variant may be associated with increased risk of certain health conditions, such as neural tube defects and autism, although the evidence is not consistent.
It is important to note that the effects of these MTHFR variants can vary among individuals and may be influenced by other genetic and environmental factors. While these variants have been extensively studied, their clinical significance and impact on health outcomes are still a subject of ongoing research.
Test Components and Method
- EDTA Vacutainer (2ml)
Price and Sample Condition
Price: AED 1200.0
Sample Condition: Peripheral blood
Report Delivery and Test Type
Report Delivery: 3-4 days
Method: Real Time PCR
Test Type: Genetics
Referring Doctor and Test Department
Doctor: General Physician
Test Department: Genetics
Conclusion
Genetic testing can determine whether an individual carries these MTHFR variants, but the interpretation of the results should be done in consultation with a healthcare professional.
| Test Name | Methylenetetrahydrofolate Reductase MTHFR – 2 Variants C677T A1298C Test |
|---|---|
| Components | EDTA Vacutainer (2ml) |
| Price | 1200.0 AED |
| Sample Condition | Peripheral blood |
| Report Delivery | 3-4 days |
| Method | Real Time PCR |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | Methylenetetrahydrofolate Reductase (MTHFR – 2 Variants C677T, A1298C) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details |
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial role in the metabolism of folate, a B vitamin. It is responsible for converting the inactive form of folate (5,10-methylenetetrahydrofolate) into its active form (5-methyltetrahydrofolate), which is necessary for various biochemical reactions in the body. There are two common genetic variants of the MTHFR gene that have been extensively studied: C677T and A1298C. These variants refer to specific changes in the DNA sequence of the MTHFR gene. The C677T variant involves a substitution of cytosine (C) with thymine (T) at position 677 of the MTHFR gene. This change leads to a reduction in the activity of the MTHFR enzyme, resulting in decreased conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. As a result, individuals with the C677T variant may have lower levels of active folate and higher levels of homocysteine, an amino acid that is associated with increased risk of cardiovascular disease. The A1298C variant involves a substitution of adenine (A) with cytosine (C) at position 1298 of the MTHFR gene. This variant also leads to reduced MTHFR activity and impaired folate metabolism, although the exact mechanisms are not fully understood. Some studies suggest that the A1298C variant may be associated with increased risk of certain health conditions, such as neural tube defects and autism, although the evidence is not consistent. It is important to note that the effects of these MTHFR variants can vary among individuals and may be influenced by other genetic and environmental factors. Additionally, while these variants have been extensively studied, their clinical significance and impact on health outcomes are still a subject of ongoing research. Genetic testing can determine whether an individual carries these MTHFR variants, but the interpretation of the results should be done in consultation with a healthcare professional. |
