MTHFR Gene Mutation Test – Discover Your Genetic Profile

$79.00

Discover vital insights into your health with our Comprehensive MTHFR Gene Mutation Test. Specifically designed to detect key mutations in the MTHFR gene – C677T and A1298C, this test offers a deeper understanding of your genetic predispositions that can influence your well-being.

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Unlock the secrets of your DNA with our MTHFR Gene Mutation Test. This test is designed to identify variations in the MTHFR gene, which can impact health, metabolism, and wellness. Understanding your MTHFR status is crucial for personalized health strategies.

Why should I get tested for MTHFR Gene Mutations?

  • MTHFR (Methylenetetrahydrofolate Reductase) is very critical in the function of methylation, a complex biochemical process that regulates gene expression and governs intracellular detoxification. MTHFR is needed for the metabolism of folate and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. MTHFR has been linked by many types of research to conditions such as Blood Clots, Heart Disease, Fibromyalgia, Migraine Headaches, Infertility, Autism, Birth Defects, Miscarriages, IBS, Mental Illness, and many more.
  • MTHFR C677T can also lead to high homocysteine. Although it does not necessarily mean there will be high homocysteine levels in a clinical setting as there are other factors that can influence homocysteine levels. This allele has been shown in research to have a greater impact on someone’s health.
  • MTHFR A1298C has not been found clinically to have an effect on homocysteine levels. This allele has a greater effect on the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as epinephrine, serotonin, L-Dopa, melatonin, etc. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.
  • Compound heterozygous is considered severe or “at-risk”. High homocysteine has a high-risk factor for numerous diseases. The MTHFR mutations with homozygous or compound heterozygous are more likely to have elevated homocysteine and a greater risk of heart disease.
  • The MTHFR test is extremely important to evaluate DNA methylation function. Mutations occur in more than 80% of the population

Turn Around Time

  • Note: Result turnaround times are only an estimate and may be subject to change.
  • 1-3 Business days

Sample Type

    • Cheek Swab Kit

Patient Preparation

  • No special preparation is needed

Why Choose Our MTHFR Test:

  • Accurate & Reliable: Utilizes advanced genetic testing technology for precise results.
  • No Doctor’s Order Necessary: No need for medical appointments.
  • Fast Results: Receive detailed reports quickly and securely online.
  • Expert Support: Access to genetic counselors for insights into your results. (Note: This is an additional cost to the MTHFR Test price – Genetic Consultation: $300.)

Benefits of Knowing Your MTHFR Status:

  • Tailor your diet and supplements to your genetic needs.
  • Gain insights into potential health risks related to MTHFR mutations.
  • Make informed decisions about your health and lifestyle.

Order now and take the first step towards personalized health understanding. Embrace a healthier future with our MTHFR Gene Mutation Test.

FAQs

Q1 Why can homocysteine levels differ even with the same MTHFR mutations?

Homocysteine levels can vary despite the presence of the same MTHFR mutations due to several factors. Firstly, the activity of the MTHFR enzyme itself can differ between individuals, even with the same mutations. This variation in enzyme activity can influence the conversion of homocysteine to methionine, leading to different homocysteine levels.

Additionally, levels of essential nutrients such as folate and other B vitamins play a significant role in regulating homocysteine levels. Individuals with the same MTHFR mutations may have different nutritional status, which can affect their homocysteine metabolism.

Moreover, a person’s overall health status can also contribute to the differences in homocysteine levels. Underlying health conditions or other genetic variations can impact the body’s ability to regulate homocysteine, even in individuals with the same MTHFR mutations.

In summary, while two individuals may share the same MTHFR mutations, the variability in their homocysteine levels can be attributed to differences in MTHFR enzyme activity, variations in folate or other B vitamin levels, and their overall health status.

Q2 Who performs MTHFR testing?

MTHFR testing is not commonly conducted in all laboratories. In the majority of situations, your samples will be sent to a specialized reference laboratory like ours ai_Diagnostics specifically equipped for this type of testing.  We are a leader in genetic testing.

Q3 Can high homocysteine levels be solely attributed to MTHFR mutations?

No, high homocysteine levels can also be caused by deficiencies of vitamins B6, B12, and/or folate. Therefore, it is important to consider other factors and causes, and not solely attribute elevated homocysteine levels to MTHFR mutations.

Q4 Do the C677T and A1298C tests detect all mutations of MTHFR?

No, the C677T and A1298C tests only detect specific mutations of MTHFR. If a more rare mutation of MTHFR is causing elevated homocysteine levels, these tests will not be able to detect them.

Q5 Are there other mutations of MTHFR that can cause elevated homocysteine levels?

Yes, there are more rare mutations of MTHFR that can cause elevated homocysteine levels. These mutations are not detected by the commonly used C677T and A1298C tests.

Q6 Can the MTHFR mutation be present with these other causes of elevated homocysteine?

The MTHFR mutation may not be present with acquired causes of elevated homocysteine, such as deficiencies of B vitamins. Therefore, the presence of these other causes does not necessarily indicate the presence of MTHFR mutations.

Q7 What are the other causes of elevated homocysteine levels besides MTHFR mutations?

Besides MTHFR mutations, other causes of elevated homocysteine levels include deficiency of vitamins B6, B12, and/or folate. These vitamins are required for homocysteine metabolism.

Q8 Is elevated homocysteine levels a risk factor for cardiovascular disease and thrombosis?

  • Is elevated homocysteine levels a risk factor for thrombosis?
    People with elevated homocysteine levels may be at an increased risk of developing thrombosis.
  • Are there individuals with MTHFR mutations who will never develop cardiovascular disease or thrombosis?
    Many individuals, including those with MTHFR mutations, may never develop cardiovascular disease or thrombosis despite having elevated homocysteine levels.
  • Does lifelong moderately elevated homocysteine levels have an effect on coronary heart disease?
    A review of data published in 2012 concluded that lifelong moderately elevated homocysteine levels have little to no effect on coronary heart disease.

Q9 What do the test results for MTHFR mutation mean?

  • What is the significance of MTHFR mutations with homozygous or compound heterozygous?
    MTHFR mutations with homozygous or compound heterozygous are considered severe or ‘at-risk’. They are more likely to result in elevated homocysteine levels and carry a greater risk of heart disease. The MTHFR test is crucial in evaluating DNA methylation function. These mutations occur in more than 80% of the population.
  • Are there other MTHFR genetic mutations that may not be detected with typical testing?
    Yes, other, more rare MTHFR genetic mutations will not be detected with typical testing.
  • What are the potential risks associated with MTHFR mutations?
    Individuals with MTHFR mutations and other clotting risk factors may be at an increased risk of thrombosis. Additionally, research suggests that women with two C677T variants have double the risk of having a child with a neural tube defect, although the overall risk is still low.
  • What does a negative test result mean?
    A negative test result for the MTHFR mutation test means that the tested person does not have the C677T and A1298C mutations. Therefore, their elevated homocysteine levels are likely due to another cause.
  • What are the possible results of the MTHFR mutation test?
    The results of the MTHFR mutation test can be reported as negative or positive. If positive, the specific mutation(s) detected will be named.

Q10 When is the MTHFR mutation test ordered?

  • When may the MTHFR mutation test not be useful even if a close relative has MTHFR gene mutations?
    The MTHFR mutation test may not be useful if a close relative with MTHFR gene mutations has normal homocysteine levels. In such cases, the test may not provide additional meaningful information and may not be recommended for further assessment.
  • Why is testing for homocysteine level recommended over the MTHFR mutation test in cases of homocysteinemia?
    In cases of homocysteinemia (elevated blood homocysteine levels), the MTHFR mutation test is often unnecessary. Testing for homocysteine levels directly provides a more direct and accurate evaluation of the condition.
  • When should a person test for homocysteine levels instead of the MTHFR mutation?
    If a person is suspected to have high homocysteine levels, it is recommended to test directly for homocysteine levels rather than relying solely on the MTHFR mutation test. This approach allows for a more accurate assessment of homocysteine levels.
  • Is the MTHFR mutation test useful for thrombophilia screening?
    Some laboratories and organizations recommend against using the MTHFR mutation test for thrombophilia screening. This suggests that the test may not be as useful in detecting thrombophilia as other methods.
  • In what situations is the MTHFR mutation test ordered?
    The MTHFR mutation test may be ordered when a person has elevated homocysteine levels, particularly if they have a personal or family history of premature cardiovascular disease or thrombosis. It may also be considered when a close relative has MTHFR gene mutations.

Q11 How are MTHFR mutation tests used in medical practice?

  • Are MTHFR C677T and A1298C gene mutations the most common mutations tested?
    Yes, MTHFR C677T and A1298C gene mutations are the most common mutations tested in the MTHFR gene. However, if someone has a different mutation in their family, then that specific mutation should be tested instead.
  • When should a specific mutation be tested instead of the commonly tested ones?
    If someone has a different mutation in their family, then that specific mutation should be tested alongside the commonly tested MTHFR C677T and A1298C gene mutations.
  • Under what circumstances is the MTHFR test ordered along with other inherited clotting risk tests?
    The MTHFR test may be ordered along with other inherited clotting risk tests, such as Factor V Leiden or prothrombin 20210 mutation tests, to help evaluate a person’s overall risk of developing inappropriate blood clots.
  • Is the MTHFR mutation test recommended for assessing the risk of cardiovascular disease or thrombosis screening?
    The utility of the MTHFR mutation test for assessing the risk of cardiovascular disease has not been established, and some expert guidelines do not recommend it for thrombosis screening.
  • When is the MTHFR mutation test ordered?
    The MTHFR mutation test may be ordered as a follow-up to an elevated homocysteine test or if a person has a personal or family history of premature cardiovascular disease or inappropriate blood clots (thrombosis).

Q12 What is the relationship between MTHFR mutations and homocysteine levels?

  • What are the potential risks associated with increased homocysteine levels, such as cardiovascular disease, blood clots, and stroke?
    Increased homocysteine levels, caused by mutations in the MTHFR gene and impaired MTHFR activity, may increase the risk of premature cardiovascular disease (CVD), formation of inappropriate blood clots (thrombosis), and stroke.
  • How do these mutations affect MTHFR activity and homocysteine levels in the blood?
    The mutations in the MTHFR gene, specifically the C677T and A1298C variants, are associated with decreased MTHFR activity and increased homocysteine levels in the blood.
  • What are the specific changes in DNA (mutations) associated with these MTHFR variants?
    The specific changes in DNA associated with the MTHFR variants C677T and A1298C are mutations that result in decreased MTHFR activity and increased homocysteine levels in the blood.
  • What are the two common mutations or DNA sequence variants of the MTHFR gene (C677T and A1298C)?
    The two common DNA sequence variants, also known as single nucleotide polymorphisms (SNPs), in the MTHFR gene are called C677T and A1298C.
  • How are increased homocysteine levels related to the improper processing of homocysteine in the body?
    If someone has increased levels of homocysteine, it means the body is not processing it properly. One cause of that could be a mutation in the MTHFR gene, causing homocystinuria.
  • What is the role of the MTHFR enzyme in metabolizing folate and converting homocysteine into methionine?
    The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another. It is also part of the process that converts homocysteine into methionine, an important building block for many proteins.
  • What are the potential serious genetic disorders associated with mutations in the MTHFR gene?
    Mutations or variations in the MTHFR gene can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others.

Q13 What are the implications of having MTHFR gene mutations?

  • What is the risk for women with two C677T variants of having a child with a neural tube defect?
    Research suggests that women with two C677T variants have double the risk of having a child with a neural tube defect, although the risk is still below 1%.
  • What are the potential risks associated with MTHFR mutations and other clotting risk factors?
    Individuals with MTHFR mutations and other clotting risk factors may be at an increased risk of thrombosis.
  • Can other MTHFR genetic mutations be detected with typical testing?
    No, other, more rare MTHFR genetic mutations will not be detected with typical testing.
  • What does a negative MTHFR mutation test result mean?
    A negative MTHFR mutation test result means that the C677T and A1298C mutations were not detected, suggesting that the elevated homocysteine levels are likely due to another cause.
  • Are two copies of the A1298C mutation associated with increased homocysteine levels?
    No, two copies of the A1298C mutation are not typically associated with increased homocysteine levels.
  • What are the most common MTHFR mutations associated with elevated homocysteine levels?
    The most common MTHFR mutations associated with elevated homocysteine levels are the MTHFR C677T and A1298C mutations.

Q14 What are the common MTHFR gene mutations that are tested for?

  • What are the potential health risks associated with these mutations?
    These mutations are associated with increased homocysteine levels in the blood, which may increase the risk of premature cardiovascular disease (CVD), formation of inappropriate blood clots (thrombosis), and stroke.
  • How do these mutations affect MTHFR activity?
    These SNPs result in changes in the DNA (or mutations) that are associated with decreased MTHFR activity.
  • What are the common MTHFR gene mutations that are tested for?
    The two MTHFR variants that are commonly tested for are called C677T and A1298C.

Q15 How do mutations in the MTHFR gene affect the body?

  • How do MTHFR mutations lead to other health conditions?
    MTHFR mutations have been linked to various health conditions such as blood clots, fibromyalgia, migraine headaches, infertility, autism, birth defects, miscarriages, irritable bowel syndrome (IBS), and mental illness. These mutations affect the function of methylation, a biochemical process that regulates gene expression and detoxification within cells. The disruption in methylation caused by MTHFR mutations can contribute to the development of these health conditions.
  • How do MTHFR mutations affect the risk of heart disease?
    MTHFR mutations, specifically the C677T and A1298C variants, are associated with decreased MTHFR enzyme activity and increased homocysteine levels. High homocysteine levels have been linked to an increased risk of heart disease. Therefore, individuals with MTHFR mutations, particularly those with these specific variants, may have a higher risk of developing heart disease due to the impact on homocysteine metabolism.
  • How do MTHFR mutations affect homocysteine levels and what are the possible health risks associated with increased homocysteine?
    MTHFR mutations can lead to decreased MTHFR enzyme activity, resulting in increased homocysteine levels in the blood. If someone has increased levels of homocysteine, it means that the body is not processing it properly. This elevation in homocysteine levels may increase the risk of premature cardiovascular disease, formation of inappropriate blood clots, and stroke. Therefore, MTHFR mutations can have a direct impact on homocysteine levels and the associated health risks.
  • What are the two common DNA sequence variants associated with MTHFR mutations?
    The two common DNA sequence variants associated with MTHFR mutations are known as single nucleotide polymorphisms (SNPs) and are named C677T and A1298C. These variants can be inherited by individuals and are associated with decreased MTHFR activity and increased homocysteine levels in the blood, which may increase the risk of cardiovascular disease, blood clot formation, and stroke.
  • How do mutations in the MTHFR gene lead to serious genetic disorders such as homocystinuria, anencephaly, and spina bifida?
    Mutations or variations in the MTHFR gene can lead to serious genetic disorders such as homocystinuria, anencephaly, and spina bifida. These mutations affect the critical MTHFR enzyme, which is responsible for metabolizing folate and converting homocysteine into methionine. When there are mutations in the MTHFR gene, it disrupts these processes and can result in the development of these genetic disorders.

Q16 How do mutations in the MTHFR gene affect the body?

  • What is the role of the MTHFR enzyme in converting homocysteine into methionine?
    The MTHFR enzyme is part of the process that converts homocysteine into methionine, an important building block for many proteins.
  • What is the specific role of the MTHFR enzyme in metabolizing B vitamin folate?
    The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another.
  • What are the potential genetic disorders that can result from mutations or variations in the MTHFR gene?
    Mutations or variations in the MTHFR gene can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others.

Q17 What is the MTHFR gene and what does it do?

  • What is the role of the MTHFR enzyme in converting homocysteine into methionine?
    The MTHFR enzyme is part of the process that converts homocysteine into methionine, an important building block for many proteins.
  • What is the specific role of the MTHFR enzyme in metabolizing B vitamin folate?
    The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another.
  • What are the potential genetic disorders that can result from mutations or variations in the MTHFR gene?
    Mutations or variations in the MTHFR gene can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others.

Q18 Is there any preparation needed for the MTHFR mutation test?

  • Are there any instructions to follow before getting the MTHFR mutation test?
    There are no specific instructions to follow before getting the test. We do ask that you rinse your mouth with water and avoid eating for 30 minutes prior to a cheek swab
  • Do I need to do anything before undergoing the MTHFR mutation test?
    There is no need to do anything before undergoing the test.
  • Is there any specific requirement before taking the MTHFR mutation test?
    No specific requirement is needed.
  • What preparation is needed for the MTHFR mutation test?
    No special preparation is needed.
  • Does the MTHFR mutation test require any specific preparation?
    None. It does not matter if you drink alcohol or what you eat as it will not impact the DNA in your cells

Q19 What sample is required for the MTHFR mutation test?

How is the cheek swab sample collected?
The cheek swab for the MTHFR mutation test is collected by swabbing the inside of the mouth/cheeks for 20 seconds on each side with our special swabs

What type of sample is required for the MTHFR mutation test?
Usually blood or a Cheek Swab or Saliva. We use buccal/cheek swab tubes

Q20 When should I get tested for MTHFR mutation?

  • Is testing for homocysteine level recommended instead of MTHFR mutation if I suspect high homocysteine levels?
    If high homocysteine levels are suspected, it is generally recommended to test for homocysteine level rather than solely relying on the MTHFR mutation test. Homocysteine level testing can provide more accurate information in cases of homocysteinemia.
  • Should I use the MTHFR mutation test for thrombophilia screening?
    Some laboratories and organizations recommend against using the MTHFR mutation test for thrombophilia screening. Therefore, it may not be the most appropriate test for assessing thrombophilia risk.
  • Should I get tested for MTHFR mutation if a close relative has MTHFR gene mutations but has normal homocysteine levels?
    If a close relative has MTHFR gene mutations but has normal homocysteine levels, the MTHFR mutation test may not be useful. However, it is essential to consider other factors and consult with healthcare professionals for personalized advice.
  • When should I get tested for MTHFR mutation if I have a personal or family history of premature cardiovascular disease or thrombosis?
    If you have a personal or family history of premature cardiovascular disease or thrombosis, it may be recommended to get tested for the MTHFR mutation to assess your risk.
  • When should I get tested for MTHFR mutation if I have elevated homocysteine levels?
    The MTHFR mutation test may be ordered when a person has elevated homocysteine levels, especially if they have a personal or family history of premature cardiovascular disease or thrombosis.

Q21 Why should I get tested for MTHFR mutation?

  • Can MTHFR mutations help determine the risk of thrombosis or premature cardiovascular disease?
    Yes, MTHFR mutations can help determine the risk of thrombosis or premature cardiovascular disease. Testing for MTHFR mutations is sometimes done to evaluate the cause of elevated homocysteine levels and to determine the risk of thrombosis or premature cardiovascular disease. However, it’s worth noting that some expert guidelines do not recommend it.
  • When should I consider getting tested for MTHFR mutation?
    You may consider getting tested for MTHFR mutation when you have elevated homocysteine levels or when a close relative has MTHFR gene mutations or has developed cardiovascular disease or thrombosis at an early age.
References
  1. “MTHFR Mutation: Symptoms, Tests, and Treatment.” Medical News Today, MediLexicon International, www.medicalnewstoday.com/articles/326181
  2. “MTHFR Mutation Test: MedlinePlus Medical Test.” MedlinePlus, U.S. National Library of Medicine, 24 June 2021, medlineplus.gov/lab-tests/mthfr-mutation-test/.
Weight 1 lbs
Dimensions 10 × 6 × 1.25 in

Self-Test Collection Instructions

Please download the PDF below for sample collection instructions.

Buccal Swab PDF

Sample Report

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Applied InGENuity Diagnostics Laboratory. Located at 7040 Lake Ellenor Dr, Orlando, FL 32809
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