MTHFR Gene Test: Mutations, Symptoms, Diagnosis and Test Cost

MTHFR Gene Test: Mutations, Symptoms and Diagnosis

Your chances of developing health diseases such as cancer can increase if you have two copies of the MTHFR gene mutation. The MTHFR Gene test examines for mutations or variations in the MTHFR gene.

This blog provides all the information you need to be aware of before taking an MTHFR Gene Test.

  1. What is MTHFR Gene?
  2. What does having the MTHFR gene mean?
  3. What are MTHFR gene variants?
  4. What are the health conditions associated with mutations in MTHFR Gene?
  5. What is MTHFR Gene Test?
  6. When to take the MTHFR gene test?
  7. Why do you need the MTHFR gene test?
  8. What do the MTHFR Gene test results mean?
  9. What to do if the test results are positive?

For our readers, who are more interested in knowing the MTHFR Gene test cost beforehand, we begin with that section.

How much does the MTHFR Gene test cost?

An MTHFR Gene test costs $99 in the U.S. The cost of this test also depends on your choice of visiting the nearest lab or getting tested at home using the home test kit. Complete the procedure and get the results in your email in 5 to 6 business days. Doctor consultation is also available for further treatment or medical advice.

The following table shows the MTHFR Gene home test kit cost by one of our partners located in the U.S.

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EmpowerDx Lab

(Home Test Kit)

  • Reports – 5 to 6 days
  • The entire U.S.
  • Home-test kit provider

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What is MTHFR Gene?

The MTHFR gene instructs the body to produce the Methylenetetrahydrofolate reductase (MTHFR) enzyme. This enzyme assists in the digestion of amino acids, which serve as the building blocks of proteins. The MTHFR protein facilitates the absorption of folate by the body, which is essential for creating DNA and altering proteins.

What does having the MTHFR gene mean?

You inherit two copies of the MTHFR gene from your parents, one each. The MTHFR protein promotes the body’s absorption of folate. Your body requires folate to create DNA and alter proteins. You may have higher blood homocysteine levels because the MTHFR proteins your body produces may not efficiently process folate when you have alterations in your gene.

In addition, the MTHFR gene contributes to synthesizing neurotransmitters that affect mood, including serotonin and dopamine. These neurotransmitters play an essential role in mood regulation and mental wellness.

What is MTHFR Gene - Functions

What are MTHFR gene variants?

The MTHFR gene can either have one, two, or none of the mutations. Such mutations are often known as variants. A variation is a section of a gene’s DNA that typically varies or differs from person to person.

On the MTHFR gene, there are two possible mutational variations or forms. The particular variations are: 

C677T: The MTHFR C677T variation is the most prevalent type. The “C” in the name is the projected DNA base and the “T” is the gene variation at the MTHFR gene’s position 677. According to NIH, between 30 and 40 percent of Americans may carry the gene mutation 677. Around 25% of persons with Hispanic ancestry and 10% to 15% of those with White ancestry are homozygous for this variation. 

A1298C: Little information is available about this variation. The variation is far less prevalent among Asian and Hispanic people, in contrast. The MTHFR gene has this variation at location 1298. This indicates that the gene variation “C” is present at the DNA base instead of the predicted DNA base “A” at position 1298 of the MTHFR gene.

Furthermore, one copy of each mutation—677 and 1298—can be inherited. The high blood homocysteine levels caused by these mutations are associated with several medical conditions.

What are the health conditions associated with mutations in MTHFR Gene?

The body’s capacity to digest amino acids, particularly homocysteine, can be impacted by mutations in the MTHFR gene, resulting in adverse health effects. 

Researchers associate the following conditions with MTHFR gene mutations: 

  • A neurological condition that impairs coordination called ataxia
  • Psychological disorders such as anxiety and depression 
  • Behavioral disorders such as bipolar disorder or attention deficit hyperactivity disorder.
  • Abnormal levels of homocysteine in your urine or blood
  • Peripheral neuropathy which is known for the weakening of the nerves 
  • Heart conditions such as heart attacks, strokes, and blood clots
  • A deficiency of healthy red blood cells leads to anemia
  • Neural tube birth abnormalities, such as spina bifida and anencephaly

If you are experiencing the above health conditions, you can take the MTHFR Gene test for diagnosis.

Health conditions - MHTFR Gene

What is MTHFR Gene Test?

If you have the MTHFR gene variants (677 and 1298), this at-home genetic test helps identify these variations. The American Pregnancy Association’s suggested at-home test is the empowerDX MTHFR Gene Test (APA). People aged two and above can take the test.

Your sample collection can be done anywhere you are most comfortable. It is simple and quick. All you have to do is swab your mouth with the supplied swab, put it back in a collection tube, and ship your test envelope to our CLIA-licensed clinical labs. Thirty minutes of fasting is necessary for this test. You are not to consume any food or beverages containing caffeine 30 minutes before collection.

When the lab receives your sample, you can expect to obtain secure web results and a doctor-reviewed test guide in 5 to 6 days. Moreover, you can get free medical counseling along with the test results.

When to take the MTHFR gene test?

Your symptoms are unique and based on the kind of mutation you have. You are to test for genetic mutations when you are either trying to get pregnant or when you experience signs and symptoms associated with them.

The following are the symptoms brought on by MTHFR mutations:

  • Seizures 
  • Hyperactivity 
  • Intellectual retardation 
  • Migraines
  • Excessive blood coagulation
  • Chronic tiredness and discomfort
  • Facing trouble remembering, focusing, and thinking
  • Tingling or feeling of numbness in the hands and legs

When to take the MTHFR gene test

Why do you need the MTHFR gene test?

An at-home MTHFR gene test is essential because:

  • The test helps you calculate your chance of getting early heart or blood vessel disease, blood clots, or both. 
  • The test helps in early diagnosis and identifies an alteration in the MTHFR gene.
  • Find the appropriate treatment for elevated levels of homocysteine in your blood.
  • Your body uses methotrexate medication more effectively when you have MTHFR protein. Doctors prescribe Methotrexate to treat psoriasis, rheumatoid arthritis, and cancer.

What do the MTHFR gene test results mean?

You can find out if you have one or both of the two most prevalent mutations in the MTHFR gene by doing this gene test. Typically, your medical provider classifies test findings as positive or negative:

A positive test result indicates that your body has an MTHFR gene mutation in either one gene copy or both genes. It’s unlikely that having a mutation in just one MTHFR gene will harm your health in any way. 

Your test results will report the following when you have high homocysteine levels: 

  • It is most probable that two copies of the C677T gene mutation or one copy of both C677T and A1298C results in high homocysteine levels. 
  • If both your genetic copies are of A1298C mutation, then your high homocysteine levels are caused by other health concerns.

A negative test result means no common MTHFR gene mutations were present in your blood sample.

The test results for MTHFR gene mutations from the lab are listed as follows:

For MTHFR 667 gene mutation, your results will be marked as genotype – C/C for no gene mutations, genotype – C/T for one copy of the genetic mutation, and genotype – T/T for two copies of the 667 type mutation.

For MTHFR 1298 gene mutation, your results will be marked as genotype – A/A for no genetic mutations, genotype – A/C for two copies of the 12988 type mutation, and genotype – C/C for two copies of the 12988 type mutation.

What to do if the test results are positive?

There is no medical care necessary for MTHFR mutations. Yet, altering one’s food and way of life can make up for any consequent nutritional deficits.

Examples of lifestyle changes are listed as follows:

  • Regular exercise
  • Avoid smoking and drinking
  • Get a healthy diet
  • Make sure to get enough sleep

Some of the recommended healthy diet options are:

  • Sunflower seeds
  • Peanut  butter
  • Cooked legumes and lentils
  • Vegetables such as spinach, lettuce, and broccoli 
  • Almond butter
  • Fruits such as strawberries, raspberries, and grapes

To effectively control levels of homocysteine, a healthcare professional may advise you to take vitamin supplements such as folate, B12, and B6 based on the seriousness of the mutation and your health state. If required, doctors may also recommend specific medications to reduce blood clots.

Frequently asked questions:

Why would I request an MTHFR gene test? 

A: You can take up the test if you face medical issues such as blood clots, birth abnormalities, and elevated homocysteine levels. In addition to medical conditions, you can take the gene test if you have a family history of genetic mutations or you are trying to get pregnant.

How can I determine whether my results are homozygous or heterozygous? 

A: The result is homozygous if the two letters on your lab report are the same (for example, C/C, T/T, or A/A). The outcome is heterozygous (say, C/T or A/C) when the letters in the report are not the same. The results report both the SNPs of this gene (677 and 1298). Thus, you can identify if the variants are homozygous or heterozygous.

What do I do after I get the MTHFR gene test results?

A: It is highly suggested that you discuss lab results with your doctor because inheriting the mutation does not guarantee that you will have health concerns. 

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