The MTHFR (methylenetetrahydrofolate reductase) mutation test is a genetic test that identifies variations in the MTHFR gene, which can influence how the body processes folate and homocysteine.

Understanding these genetic variations is crucial as they can affect an individual’s risk for various health conditions, including cardiovascular diseases, pregnancy complications, and certain mental health disorders.

This guide will explore the significance of the MTHFR mutation test, interpret the results, and provide information on the cost of testing. By gaining insight into your MTHFR status, you can make more informed decisions about your health and wellness.

What is an MTHFR Gene Test?

The MTHFR gene test detects mutations in the MTHFR gene

This gene codes for an enzyme crucial in folate metabolism, a vital process for DNA synthesis and repair, amino acid processing, and methylation reactions within cells

The MTHFR gene test determines the efficiency of methylation processes, uncovers genetic information crucial for personalized medicine, and quantifies the impact of MTHFR variations on health

  • Initially, MTHFR gene testing targeted health conditions like cardiovascular disease and neural tube defects.
  • Early methods used PCR techniques to detect common polymorphisms such as 677C > T and 1298A > C.
  • Technological advancements like high-throughput sequencing have improved MTHFR gene testing accuracy and efficiency for wider clinical use.

What Kind of Genetic Variation Does the MTHFR Gene Test Look for?

  • The MTHFR C677T polymorphism plays a vital role in folate metabolism. This polymorphism is linked to various diseases, including vascular diseases, cancer, neurology, diabetes, and psoriasis.
  • The MTHFR A1298C polymorphism has emerged as a notable risk factor for vascular-related pregnancy complications, including miscarriage. 

These gene mutations are relatively common. Around 47% of people of Hispanic descent and 36% of Europeans are carriers for the C677T variant.

MTHFR gene mutations can disrupt enzyme function, reducing its ability to convert 5,10-methylenetetrahydrofolate (5,10-MTHF) to 5-methyltetrahydrofolate (5-MTHF), leading to elevated homocysteine levels and impaired methylation processes.

When Should You Consider Getting an MTHFR Gene Test?

Symptoms and conditions that may prompt MTHFR gene testing include recurrent pregnancy loss or complications, neural tube defects in newborns, cardiovascular diseases (stroke), elevated homocysteine levels (homocystinuria), mental health disorders, or blood clotting disorders. 

Individuals with a history of pregnancy complications, cardiovascular diseases, or blood clotting disorders, along with their family members, should consider MTHFR gene testing to assess genetic predisposition and potential risks associated with folate metabolism and homocysteine levels.

Are there Specific Health Conditions where an MTHFR Test is Relevant?

  • Heart disease, stroke, and peripheral artery disease
  • Recurrent pregnancy loss, neural tube defects, and preeclampsia
  • Depression, bipolar disorder, and schizophrenia
  • Certain types of cancer

MTHFR mutations are linked to these conditions due to their impact on folate metabolism, leading to elevated homocysteine levels and impaired DNA methylation, which can contribute to disease development and progression.

Should You Run an MTHFR Gene Test if You are Healthy?

MTHFR gene testing may be warranted for healthy individuals if blood tests reveal elevated homocysteine levels or if a close relative has an MTHFR gene mutation, despite being generally discouraged.

  1. Consult with a genetic counselor or healthcare provider before undergoing preventive genetic testing
  2. Consider genetic testing if you have a family history of inherited conditions
  3. Prioritize testing for specific genetic mutations known to have significant health implications (e.g. BRCA1/2 mutations for breast and ovarian cancer risk)

At-Home Testing vs. Doctor-Ordered MTHFR Gene Testing

At-home testing for MTHFR gene mutations offers convenience and affordability, allowing individuals to collect samples from home. 

However, doctor-ordered testing may provide greater accuracy, with healthcare professionals guiding the process and interpreting results.

Professional genetic counseling is crucial for both at-home and doctor-ordered MTHFR gene testing. Genetic counselors are trained experts who can provide guidance and support throughout the testing process.

Can I Buy the MTHFR Gene Test Online and Do It Myself?

Here are some options for purchasing at-home MTHFR gene tests: 23andMe, Ancestry DNA, SelfDecode, Genomid, and Dante Labs

There are risks associated with the accuracy and interpretation of results. It’s essential to ensure that the testing company analyzes genetic data accurately and provides evidence-based information.

Are At-Home MTHFR Gene Tests as Reliable as Those Done by a Doctor?

While both tests analyze genetic variations associated with the MTHFR gene, doctor-ordered tests typically undergo rigorous validation and quality control measures, ensuring the accuracy and reliability of results.

Professional laboratories play a crucial role in ensuring the accuracy of genetic tests:

  • They stick to strict quality control measures and validation processes 
  • They employ trained technicians 
  • They participate in proficiency testing programs and undergo regular audits to verify their testing accuracy

How Do You Perform an MTHFR Mutation Test At-Home?

Sample Collection

  1. If using a buccal swab, gently rub the inside of your cheek with the swab provided in the kit for about 30-60 seconds
  2. Using a saliva collection kit usually involves spitting into a collection tube provided in the kit

Sample Submission

  • Seal the sample collection container securely to prevent any leakage during transit
  • Place the sealed container inside the provided return envelope or box
  • Double-check the mailing address
  • Drop off the sealed return envelope at a designated shipping location

Results Delivery

At-home MTHFR test results are usually sent electronically, either via email or through an online portal from the testing company. Results typically arrive within a few weeks after the testing company receives the sample, although the exact timing may vary.

How Do They Perform an MTHFR Mutation Test at the Hospital?

Doctor Consultation

The healthcare provider will review your medical history. You will have the opportunity to discuss any symptoms or concerns you may have that could indicate a potential need for MTHFR testing. The healthcare provider will explain what MTHFR testing entails, including the type of sample required and how the test is performed.

Blood Draw

  • The individual may need to fast for a specific period before the blood draw
  • Venipuncture (collecting a blood sample)
  • The blood is drawn into one or more collection tubes
  • The tubes are labeled with the individual’s information
  • Storage and transport

Results Discussion

After the MTHFR test, results are discussed during a follow-up consultation with a healthcare provider or genetic counselor. They interpret the results considering the individual’s medical and family history. Recommendations may include genetic counseling for further guidance, personalized treatment plans, lifestyle adjustments, and monitoring of relevant health parameters.

How Much Does it Cost to Run an MTHFR Mutation Test?

At-Home Kits

At-home MTHFR gene test prices typically range from around $100 to $300, depending on the provider and the extent of testing offered.

Doctor-Ordered Tests

Generally, the cost of MTHFR testing through a healthcare provider may range from a few hundred to over a thousand dollars. This cost may include fees for the test itself, as well as additional charges for sample collection, laboratory processing, and interpretation of results.

How Does the MTHFR Gene Influence Methylation in the Human Body?

MTHFR converts 5,10-methylenetetrahydrofolate (5,10-MTHF) into 5-methyltetrahydrofolate (5-MTHF). This conversion step is essential for producing methyl groups, which are critical for DNA synthesis, repair, and regulation. 

Besides MTHFR mutations, the methylation process is influenced by the following:

  • Nutrition
  • Lifestyle factors
  • Environmental exposures
  • Hormonal status
  • Genetics

Does an Abnormal MTHFR Result Explain Methylation Issues?

While an abnormal MTHFR result may suggest potential methylation issues, it’s essential to recognize that various genetic, environmental, and lifestyle factors beyond MTHFR mutations alone influence methylation. 

Some conditions linked to impaired methylation include:

  • Neurodevelopmental conditions (e.g. autism)
  • Cancer
  • Cardiovascular disease
  • Age-related diseases 

Should I Pair MTHFR and Methylation Tests?

Pairing MTHFR and methylation tests provides a thorough health evaluation, particularly if you suspect methylation issues or have a family history of related conditions. MTHFR testing identifies gene variants impacting methylation, while methylation tests directly assess methylation patterns in your DNA, offering insights into overall health.

Pairing MTHFR and methylation tests is particularly beneficial in the following scenarios:

  • Family history of methylation-related conditions
  • Recurrent health issues linked to methylation dysfunction
  • Planning to conceive, assessing methylation status for pregnancy risks

Is it Worth it to Take an MTHFR Gene Test?

Taking an MTHFR gene test can be valuable as it reveals variations in folate metabolism, evaluates susceptibility to certain types of cancer, and shows variations that may impact pregnancy and fertility. Understanding one’s MTHFR gene status can provide insight into potential health risks and guide personalized strategies for prevention.

  • MTHFR testing identifies gene variations impacting folate metabolism, cancer susceptibility, and pregnancy/fertility
  • However, it doesn’t guarantee the development of associated conditions, requiring interpretation alongside other factors under healthcare professional guidance.

Key Takeaways

  • MTHFR gene test detects mutations in the MTHFR gene crucial for folate metabolism, DNA synthesis, and repair.
  • It reveals variations impacting folate metabolism, evaluates cancer susceptibility, and shows variations impacting pregnancy and fertility
  • While it provides valuable insights into health risks, results should be interpreted alongside other factors under healthcare professional guidance

Frequently Asked Questions

Are MTHFR Test Results Accurate?

Test results can vary in accuracy depending on factors such as the testing method used, the quality of the sample, and the expertise of the laboratory conducting the test.

Should Family Members of Someone with an MTHFR Mutation Also Be Tested?

Testing family members of individuals with an MTHFR mutation can help assess inherited risk factors and guide preventive measures.

Are There Specific Medical Treatments for High Homocysteine Levels Due to MTHFR Mutations?

Medical treatments for high homocysteine levels due to MTHFR mutations include vitamin supplementation (vitamins B6, B12, and folate)  and lifestyle changes, such as a healthy diet and regular exercise, to support methylation and reduce homocysteine levels.