Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis Most Popular

The Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis test contains 1 test with 2 biomarkers.

Brief Description: The Methylenetetrahydrofolate Reductase (MTHFR) DNA Mutation Analysis test is a genetic test that examines specific mutations in the MTHFR gene. This gene encodes an enzyme called methylenetetrahydrofolate reductase, which plays a critical role in metabolizing folate (a B-vitamin) and converting it into its active form, called 5-methyltetrahydrofolate. This active form is essential for various biochemical reactions, including the conversion of homocysteine to methionine, a process that influences DNA synthesis and methylation. The test is designed to identify genetic variations in the MTHFR gene, which may impact its enzyme function and influence folate metabolism.

Also Known As: MTHFR Factor Test, MTHFR Mutation Test, MTHFR Gene Mutation Test, Methylenetetrahydrofolate Reductase Gene Test, MTHFR Disease Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test ordered?

The MTHFR DNA Mutation Analysis test is ordered when there is a suspicion of MTHFR gene mutations or when an individual has specific symptoms or risk factors related to folate metabolism. It may be ordered for the following reasons:

1. Family Planning: Couples planning to conceive may undergo this test to assess their risk of passing MTHFR gene mutations to their offspring.

2. Unexplained Health Issues: Individuals experiencing unexplained health issues, such as recurrent pregnancy loss, cardiovascular disease, or neurological symptoms, may be evaluated for MTHFR gene mutations.

3. Personal or Family History: If a person has a personal or family history of certain conditions, such as blood clots or neural tube defects, this test can help identify potential genetic factors.

What does a Methylenetetrahydrofolate Reductase DNA Mutation Analysis blood test check for?

The DNA code for the MTHFR enzyme is found in the methylenetetrahydrofolate reductase gene. Two of the most common mutations are detected by this test.

Homocystinuria, anencephaly, spina bifida, and other significant genetic illnesses can result from mutations or polymorphisms in the MTHFR gene. The MTHFR enzyme is required for the conversion of one type of B vitamin, folate, into another. It's also involved in the conversion of homocysteine to methionine, a crucial component of many proteins.

Homocysteine levels over normal indicate that the body is not digesting it adequately. A homocystinuria-causing mutation in the MTHFR gene could be one explanation. While there are at least seven different MTHFR mutations seen in persons with homocystinuria, only two DNA sequence variants known as single nucleotide polymorphisms are analyzed. Individuals can inherit one or both of the MTHFR variations, which are C677T and A1298C. These SNPs cause DNA changes that are linked to elevated homocysteine levels in the blood, which may raise the risk of early cardiovascular disease, abnormal blood clot formation, and stroke.

About 5-14 percent of the population in the United States is homozygous for C677T, which means they have two copies of the gene. The frequency varies with ethnicity, with individuals of Mediterranean descent having the highest frequency and those of African ancestry having the lowest.

The C677T variation causes the MTHFR enzyme to be less active and has a lower ability to handle folate and homocysteine. Reduced MTHFR enzyme activity slows down the homocysteine-to-methionine conversion process and can lead to a buildup of homocysteine in the blood when a person has two copies of the MTHFR C677T gene mutation or one copy of MTHFR C677T and one copy of A1298C.

The increase in homocysteine is usually mild to moderate, but the level of MTHFR enzyme activity varies from person to person. Even if a person has two copies of the MTHFR gene, proper folate consumption can "balance out" the effect of the MTHFR mutation, preventing elevated homocysteine levels.

According to some research, excessive levels of homocysteine in the blood may increase the risk of CVD by weakening blood vessel walls and encouraging plaque development and abnormal blood clotting. However, no direct link has been discovered between homocysteine levels and cardiovascular disease or thrombotic risk. See the Homocysteine article for further information.

Lab tests often ordered with a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test:

When an MTHFR mutation analysis is ordered, it's often part of a broader evaluation of health issues related to folate metabolism or thrombophilia (an increased tendency to form blood clots). Here are some tests commonly ordered alongside it:

1. Homocysteine:

   • Purpose: To measure the level of homocysteine in the blood.
   • Why Is It Ordered: Elevated homocysteine levels can be a consequence of MTHFR mutations and are associated with an increased risk of cardiovascular diseases and thrombosis.

2. Folate (Vitamin B9):

   • Purpose: To measure the level of folate in the blood.
   • Why Is It Ordered: MTHFR mutations can affect folate metabolism; assessing folate levels helps in understanding the impact of MTHFR status and guiding supplementation.

3. Vitamin B12:

   • Purpose: To measure the level of vitamin B12 in the blood.
   • Why Is It Ordered: Vitamin B12 is involved in homocysteine metabolism, and its deficiency can also lead to elevated homocysteine levels.

4. Lipid Profile:

   • Purpose: To measure cholesterol levels, including total cholesterol, HDL, LDL, and triglycerides.
   • Why Is It Ordered: To assess cardiovascular risk, especially since MTHFR mutations can be associated with an increased risk of cardiovascular diseases.

5. Complete Blood Count (CBC):

   • Purpose: Provides a broad picture of overall blood health.
   • Why Is It Ordered: To detect signs of anemia, which can sometimes be related to folate deficiency.

6. Prothrombin Time (PT/INR) and Partial Thromboplastin Time (PTT):

   • Purpose: To assess blood clotting function.
   • Why Is It Ordered: To evaluate clotting tendency, particularly if there is a history of thrombosis or in the context of MTHFR mutations.

7. Renal Function Test:

   • Purpose: To evaluate kidney function.
   • Why Is It Ordered: Kidney function can impact homocysteine levels and overall metabolic health.

These tests, when ordered alongside an MTHFR DNA Mutation Analysis, provide a comprehensive view of an individual’s risk factors related to MTHFR mutations. They are crucial for assessing the risk of cardiovascular diseases, thrombosis, and complications in pregnancy, and for guiding appropriate nutritional and medical interventions. The specific combination of tests will depend on the individual’s symptoms, medical history, and family history.

Conditions where a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test is recommended:

The MTHFR DNA Mutation Analysis test is particularly relevant for conditions and diseases associated with folate metabolism, including:

1. Neural Tube Defects: Pregnant women may undergo this test to assess the risk of neural tube defects in their offspring.

2. Cardiovascular Diseases: MTHFR gene mutations may be linked to an increased risk of cardiovascular diseases, particularly when combined with elevated homocysteine levels.

3. Blood Clotting Disorders: Certain MTHFR gene mutations have been associated with an increased risk of blood clot formation.

How does my health care provider use a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test?

The methylenetetrahydrofolate reductase mutation test is used to discover two mutations in the MTHFR gene that are linked to high homocysteine levels in the blood. It is not a common request.

If a person has a personal or family history of early cardiovascular disease or improper blood clots, this test may be done as a follow-up to a high homocysteine test. It may also be ordered in conjunction with other cardiac risk tests. However, its value in measuring CVD risk has yet to be proven, and some expert guidelines advise against using it for thrombosis screening.

If a person has a close family with known MTHFR genetic mutations, it may be ordered, especially if that person also has high homocysteine levels. The MTHFR C677T and A1298C gene variants are the most common and often tested. If someone in their family has a different mutation, that mutation should be checked.

An MTHFR test may be ordered in conjunction with other hereditary clotting risk tests, such as Factor V Leiden or prothrombin 20210 mutation tests, to assess a person's overall risk of developing dangerous blood clots.

Although the MTHFR mutation test can help establish the reason of high homocysteine levels, the utility of monitoring homocysteine levels is unclear. While some research suggests that high homocysteine levels increase the risk of cardiovascular disease and/or thrombosis, no direct correlation has been demonstrated. The American Heart Association does not suggest routine homocysteine testing as a cardiac risk measure. The American College of Medical Genetics and the College of American Pathologists both advise against testing for the C677T variation, citing its limited value in individuals with blood clots. Furthermore, the use of homocysteine levels to determine the risk of CVD, peripheral vascular disease, and stroke is controversial at this time, as multiple studies have found no benefit or reduction in risk in persons who took folic acid and vitamin B supplements to lower their homocysteine levels.

What do my MTHFR test results mean?

The results are usually reported as negative or positive, with the positive results naming the mutation. Frequently, the results are accompanied by an interpretation.

Only a small fraction of cases of high homocysteine are caused by genetic factors. MTHFR mutations C677T and A1298C are among the most frequent.

If a person has two copies of MTHFR C677T, or one copy of C677T and one copy of A1298C, it's likely that these hereditary mutations are causing or contributing to increased homocysteine levels.

Increased homocysteine levels are not usually linked to two copies of A1298C.

If the MTHFR mutation test results are negative, the C677T and A1298C mutations were not found, and the elevated homocysteine level is most likely attributable to something else. Other, more uncommon MTHFR genetic variants will be missed by standard testing.

MTHFR mutations, as well as other clotting risk factors like Factor V Leiden or PT 20210 mutations, may increase the risk of thrombosis.

Most Common Questions About the Methylenetetrahydrofolate Reductase DNA Mutation Analysis test:

Understanding the Methylenetetrahydrofolate Reductase (MTHFR) DNA Mutation Analysis Test

What is the Methylenetetrahydrofolate Reductase DNA Mutation Analysis test?

The Methylenetetrahydrofolate Reductase (MTHFR) DNA Mutation Analysis test is a genetic test that detects mutations in the MTHFR gene. This gene is responsible for producing an enzyme involved in breaking down and using folate (vitamin B9) in the body.

Why is the MTHFR DNA Mutation Analysis test ordered?

The MTHFR DNA Mutation Analysis test is often ordered when a healthcare provider suspects a patient may have a mutation in the MTHFR gene. This can be due to a history of certain health problems such as recurrent miscarriages, blood clots, or high homocysteine levels.

What is the MTHFR gene and its role in the body?

The MTHFR gene provides instructions for making methylenetetrahydrofolate reductase, an enzyme that plays a crucial role in processing amino acids, the building blocks of proteins. It's particularly important for the conversion of homocysteine to methionine, a process that requires vitamin B9 (folate).

Can the MTHFR DNA Mutation Analysis test determine my risk for cardiovascular disease?

Mutations in the MTHFR gene can lead to high levels of homocysteine, which has been associated with an increased risk for cardiovascular disease. Therefore, the test can provide information about genetic risk factors for heart disease.

How often should I have the MTHFR DNA Mutation Analysis test?

Because the MTHFR DNA Mutation Analysis test examines your genetic makeup, which doesn't change over time, the test is usually only performed once.

Interpreting MTHFR DNA Mutation Analysis Test Results

What does a positive MTHFR DNA Mutation Analysis test result mean?

A positive result means you have one or more mutations in the MTHFR gene. This can affect how your body metabolizes folate and homocysteine. However, having a mutation doesn't necessarily mean you will develop health problems.

What does a negative MTHFR DNA Mutation Analysis test result mean?

A negative result means no mutations were found in the MTHFR gene. This suggests your risk of health problems related to MTHFR mutations is not increased.

Can a MTHFR DNA Mutation Analysis test result predict my response to certain medications?

Some studies suggest that people with MTHFR mutations may respond differently to certain medications, including antifolate drugs, anticoagulants, and some antidepressants. However, more research is needed in this area.

Can a MTHFR DNA Mutation Analysis test result predict my risk of having a child with a neural tube defect?

Women with MTHFR mutations may have a slightly increased risk of having a child with a neural tube defect, such as spina bifida. However, this risk is likely influenced by other factors as well.

How are the results of a MTHFR DNA Mutation Analysis test interpreted?

The interpretation of MTHFR DNA Mutation Analysis test results is complex and should be done in conjunction with other clinical and laboratory findings. Your healthcare provider will consider the presence or absence of mutations and their potential impact on your health.

MTHFR DNA Mutation Analysis Test and Specific Conditions

Can the MTHFR DNA Mutation Analysis test be used to diagnose homocystinuria?

While mutations in the MTHFR gene can lead to elevated homocysteine levels, the MTHFR DNA Mutation Analysis test is not typically used to diagnose homocystinuria, a rare inherited disorder that results in extremely high levels of homocysteine.

Can the MTHFR DNA Mutation Analysis test help if I have a history of recurrent miscarriages?

Women with MTHFR mutations have been found to have a higher risk of recurrent miscarriages. Therefore, this test can be a part of the evaluation for recurrent pregnancy loss.

Can the MTHFR DNA Mutation Analysis test diagnose depression or other mental health disorders?

While there is some research suggesting a link between MTHFR mutations and certain mental health disorders, including depression and schizophrenia, the MTHFR DNA Mutation Analysis test is not used to diagnose these conditions.

Can the MTHFR DNA Mutation Analysis test predict my risk of developing certain types of cancer?

Some research has found associations between MTHFR mutations and increased risks of certain types of cancer, including colon cancer and acute lymphoblastic leukemia. However, the test is not used to predict cancer risk.

Can the MTHFR DNA Mutation Analysis test help if I have an autoimmune disease?

There's some evidence that MTHFR mutations may be more common in people with certain autoimmune diseases, but the test is not used to diagnose or manage these conditions.

General Questions About the MTHFR DNA Mutation Analysis Test

Can the MTHFR DNA Mutation Analysis test predict my response to folate supplementation?

People with MTHFR mutations may not metabolize folate as efficiently, and some may benefit from supplementation with specific forms of this vitamin. However, response to supplementation can vary and should be discussed with a healthcare provider.

Can the MTHFR DNA Mutation Analysis test tell me if I should avoid folic acid in my diet?

While some people with MTHFR mutations may be advised to take a specific form of folate (5-MTHF), there's no evidence to suggest that they should avoid folic acid, a form of folate commonly added to foods.

Can the MTHFR DNA Mutation Analysis test diagnose a vitamin B12 deficiency?

While the MTHFR enzyme is involved in a metabolic pathway that includes vitamin B12, the MTHFR DNA Mutation Analysis test does not measure vitamin B12 levels and can't diagnose a deficiency.

Can the MTHFR DNA Mutation Analysis test diagnose a folate deficiency?

The MTHFR DNA Mutation Analysis test does not measure folate levels and can't diagnose a deficiency. It can, however, identify mutations that may affect folate metabolism.

Can the MTHFR DNA Mutation Analysis test predict my risk for age-related macular degeneration?

There's some evidence of a link between MTHFR mutations and a higher risk of age-related macular degeneration, but more research is needed.

Can the MTHFR DNA Mutation Analysis test predict my risk of Alzheimer's disease?

Some studies have found an association between MTHFR mutations and an increased risk of Alzheimer's disease, but more research is needed.

Can the MTHFR DNA Mutation Analysis test diagnose migraines?

There's some evidence that MTHFR mutations may be more common in people with migraines, but the test is not used to diagnose migraines.

Can the MTHFR DNA Mutation Analysis test diagnose Autism Spectrum Disorder (ASD)?

While some studies have suggested an association between MTHFR mutations and ASD, the MTHFR DNA Mutation Analysis test is not used to diagnose ASD.

Can the MTHFR DNA Mutation Analysis test diagnose infertility?

While some research has suggested an association between MTHFR mutations and certain types of infertility, the MTHFR DNA Mutation Analysis test is not used to diagnose infertility.

Can the MTHFR DNA Mutation Analysis test diagnose polycystic ovary syndrome (PCOS)?

While there's some evidence that MTHFR mutations may be more common in women with PCOS, the MTHFR DNA Mutation Analysis test is not used to diagnose PCOS.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.