How To Test For MTHFR Variation Gene Mutation And Interpret The Results

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Your genes are some of the elements that make you unique and they are often passed down from your parents.

Sometimes, a mutation is carried over as your DNA forms during fetal development, and these variations of certain genes may interfere with your health later in life.

In this post, we’ll focus on the MTHFR gene and why you might want to get tested for variants in these genes.

We’ll also consider common mutations and what blood tests can reveal.

Getting Tested For MTHFR Gene Mutations

Let’s start by talking about gene tests and how your doctor can help you identify mutations in your MTHFR genes. 

It’s important to note that you have two of these genes.

You get one from your mother and the other one from your father.

It’s possible that neither one has a mutation. A variation can occur in one or both as well.

When you test for MTHFR variation, your doctor will take a blood sample. 

The sample is then sent to a laboratory in order to investigate it and take a closer look at your genes. 

In most cases, the laboratory test will look for two specific mutations, known as A1298C and C677T. 

It’s possible to have only one of these mutations, but sometimes the test reveals that both variations are present.

There are also other genetic testing procedures that can be used to identify MTHFR gene variations that are not as common. 

These may be needed if your homocysteine levels are high, but you test negative for both the C677T and A1298C mutations. 

These tests are often used in cases where you develop homocystinuria, which describes a significantly high level of homocysteine in your blood.


Who Should Test For MTHFR Variation?

Not everyone needs to test for variations in their MTHFR genes. The test may not be useful if the gene has not caused any noticeable problems in your health. With this said, sometimes, these tests can provide helpful details for doctors to work out a treatment plan.

The MTHFR gene produces MTHFR proteins. These proteins play a very important part in methylation and breaking down the homocysteine that your body creates. When you have certain variations of the gene, your body may not effectively process homocysteine, and the process where folic acid is converted into folate may also be poorly executed.

This can cause too much of the homocysteine amino acid to circulate through your body. Currently, researchers believe that high homocysteine levels do not directly cause disease, but this particular problem has been linked to a greater risk of cardiovascular problems and other illnesses.

If your doctor orders a blood test for homocysteine levels and notices that they are higher than 15 micromol/L. In some cases, doctors may also consider a reading that’s over 10 micromol/L to be high. There are different reasons why homocysteine levels may be high, but your healthcare provider will likely want to rule out the possibility of genetic mutations.

If these mutations are ruled out, then your doctor may turn to other tests to determine the cause behind the high homocysteine levels. At this point, nutritional deficiencies are likely to become the main area for the next assessment. Folate and two other vitamins from the B vitamin family play a role in ensuring homocysteine is broken down and converted into other substances. If you have a deficiency of these nutrients, then you’re also more likely to experience high homocysteine levels.

Your doctor may use a blood sample to get a reading on your nutritional profile. This can help them determine if the problem lies with deficiencies in folate and other potential nutrients that are important for the processes that metabolize the homocysteine in your body. Following these tests, you may be prescribed prescription folate in order to help bring your nutrient levels back into the optimal range.


If you experience signs that may signal the presence of an MTHFR gene mutation, then you might want to confirm this through tests. 

Sometimes a complete gene test is done, but you can also have a laboratory look specifically for the presence of MTHFR variations. Once identified, you should consider using supplements that contain folate to ensure the mutation in the gene has a lower risk of causing health problems in the long run.