The MTHFR Gene Test looks for changes in the MTHFR gene that affect how your body processes folate and vitamin B12. Certain variants may be linked to higher homocysteine levels, which can influence heart health, energy, fertility, and mood, while normal results suggest your folate metabolism is working as expected.
Have cardiovascular concerns, elevated homocysteine levels, pregnancy planning issues, or want to understand your genetic folate metabolism for personalized health strategies?
Overview
The MTHFR Gene test examines your genetic blueprint for processing folate, a vital B vitamin that acts like your body's master coordinator for countless essential functions. Think of the MTHFR gene as instructions for building an enzyme that converts folate into its active, usable form - but some people inherit variations that make this process less efficient, like having a key that doesn't quite fit the lock perfectly. When this happens, your body may struggle to process folate properly, leading to elevated levels of homocysteine (a compound that can damage blood vessels when too high) and disrupted methylation processes that affect everything from energy production to mood regulation.
This genetic insight becomes particularly valuable if you've experienced unexplained fatigue, mood issues, fertility challenges, or have a family history of heart disease or stroke, as MTHFR variations can contribute to these concerns. By understanding your genetic folate processing ability, you can work with healthcare providers to choose the right type of folate supplements (some people need the pre-activated form), monitor homocysteine levels, and develop personalized nutrition strategies that work with your unique genetic makeup rather than against it. It's like getting a personalized instruction manual for optimizing your body's folate processing system, helping you make informed decisions about supplements and lifestyle choices that support your cardiovascular health and overall wellbeing.
Reviewed by Dr. Vu Tran Bloody Good’s Chief Medical Officer
Symptoms
You may benefit from this test if you experience:
Family history of heart attack before age 50
Family history of stroke
Recurrent pregnancy loss
Previous pregnancy complications
Problems with short-term memory
Feeling sad or down most of the time
Interest in genetic testing
Purpose
Essential for individuals with cardiovascular risk, pregnancy complications, elevated homocysteine, or anyone needing comprehensive genetic folate metabolism assessment.
How to prepare
No special preparation required. Inform healthcare provider of family history, current health conditions, and any factors that might affect genetic testing interpretation.
Understanding results
Results identify presence of MTHFR gene mutations. Positive results may indicate need for methylated folate supplementation and homocysteine monitoring to optimize health.
After the test
Address positive genetic results through methylated folate supplementation, homocysteine monitoring, personalized nutrition strategies, and cardiovascular risk management. Work with genetic counselors.
Frequently Asked Questions
MTHFR is an enzyme that processes folate; genetic mutations can reduce its efficiency, potentially leading to elevated homocysteine and increased health risks.
The test typically looks for C677T and A1298C mutations, which are the most common and clinically significant MTHFR variants.
Conditions may include cardiovascular disease, pregnancy complications, depression, fatigue, and various issues related to impaired methylation.
Management typically involves methylated folate supplementation, B-vitamin support, homocysteine monitoring, and personalized nutrition strategies.
Testing is most beneficial for people with specific health concerns, family history, or elevated homocysteine levels rather than routine screening.
While the genetic mutations can't be changed, their effects can be managed through appropriate supplementation and lifestyle modifications.
We want you to feel bloody good—inside and out. Regular testing isn’t just about checking your current health; it helps you spot abnormal values you might not know about.
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Book your referral
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2
Collect your sample
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3
Receive your results
View your lab results and receive a personalised review from the secure Bloody Good platform.
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