Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis

What this laboratory test evaluates

DetailsMethylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis – This test looks for specific genetic changes in the MTHFR gene that can affect enzyme activity, potentially leading to higher levels of homocysteine in the blood. These changes are common and can be a risk factor for heart and blood vessel diseases, though recent research questions the strength of this link. The test focuses on two common variants known as C677T and A1298C.

What patients is this test right for?This test may be considered for individuals with a family history of heart disease or blood clots, especially if they also have low levels of folate in their blood.

What type of sample is required for this test?5 mL whole blood collected in an EDTA (lavender-top) tube.

Test Resources http://education.questdiagnostics.com/faq/FAQ66

Additional test information

This test looks for specific genetic changes in the MTHFR gene that can affect enzyme activity, potentially leading to higher levels of homocysteine in the blood. These changes are common and can be a risk factor for heart and blood vessel diseases, though recent research questions the strength of this link. The test focuses on two common variants known as C677T and A1298C.

Collection and processing

• Sample type: Whole blood
• Fasting: No
• Estimated laboratory processing: Results should be available in 2 – 5 business days after the sample is collected

How Sunridge uses laboratory information

Sunridge considers the medical question, symptoms, history, medications, prior results, and whether the finding could change care before recommending testing. A laboratory result is not interpreted in isolation and does not establish a diagnosis by itself.

Before requesting this test

Availability, collection requirements, eligibility, and processing estimates can change. Sunridge reviews each request and, when appropriate, creates the order through Fullscript. Follow the current instructions supplied with the approved order.