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MTHFR Test Overview

The MTHFR test measures mutations or polymorphisms in the MTHFR gene (methylenetetrahydrofolate reductase). This gene produces an enzyme that plays a crucial role in converting the vitamin folate (B9) into its active form, which is essential for processing amino acids and producing DNA. Mutations in this gene can affect how the body processes folate and homocysteine, an amino acid that, when elevated, may increase the risk of various health issues.

Purpose of the MTHFR Test:

The test is conducted to determine if someone has a mutation in the MTHFR gene, which can help explain certain health conditions, including:

1. Increased Risk of Blood Clots: A mutation can elevate homocysteine levels, leading to a higher risk of venous thromboembolism (VTE), deep vein thrombosis (DVT), and other clotting disorders.
2. Cardiovascular Issues: Elevated homocysteine levels have been linked to heart disease, stroke, and peripheral artery disease.
3. Pregnancy Complications: MTHFR mutations are sometimes linked with pregnancy complications, such as recurrent miscarriages or preeclampsia.
4. Neurological Conditions: Some studies suggest that MTHFR mutations may be associated with migraines, depression, and certain cognitive issues.
5. Metabolism of Folate: Those with MTHFR mutations might not process folate as efficiently, which is important for reducing neural tube defects in pregnancy.

Types of MTHFR Mutations:

The two common MTHFR mutations (polymorphisms) tested are:

• C677T: This mutation is associated with elevated homocysteine levels and an increased risk of cardiovascular issues.
• A1298C: This variant is typically linked to neurological conditions and is less commonly associated with high homocysteine levels.

Range and Interpretation of Results:

• Homozygous Mutation (Both copies mutated): Indicates that the person has two copies of the mutated gene (C677T or A1298C), which may significantly affect folate metabolism.
• Heterozygous Mutation (One copy mutated): Indicates the person has one mutated copy and one normal copy. The impact may be less severe but can still result in altered folate metabolism.
• Normal/No Mutation: Indicates no MTHFR mutations were detected, meaning normal processing of folate.

Elevated Homocysteine Levels:

In patients with MTHFR mutations, homocysteine levels are often monitored. Elevated levels can signal a risk for cardiovascular disease and other conditions.

Who Should Get Tested?

• Individuals with a family history of clotting disorders, cardiovascular issues, or recurrent miscarriages.
• Pregnant women or those planning to conceive, especially if there is a history of neural tube defects or pregnancy complications.
• Those with unexplained blood clots or high homocysteine levels on routine testing.