NOTE: This test is ONLY AVAILABLE TO AUSTRALIAN RESIDENTS.
The MTHFR Gene Mutation Blood Test
MTHFR is the gene in genetics that has the job of making an enzyme called methylenetetrahydrofolate reductase, and genetic mutations in this gene can lead to various health issues. This enzyme plays an important role in processing amino acids which are the building blocks of the body. So when the MTHFR gene has a mutation, limited amounts of these important enzymes are produced leading to many serious health problems.
What is the MTHFR Gene?
The MTHFR gene, also known as Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine. This enzyme plays a crucial role in processing amino acids and converting homocysteine to methionine, which the body uses to make proteins and other important compounds. The MTHFR gene is essential for a chemical reaction involving forms of the B-vitamin folate. Mutations in the MTHFR gene, such as C677T and A1298C, can lead to elevated blood levels of homocysteine, which is a risk factor for various health conditions, including coronary artery disease, neural tube defects, and mood disorders.
Important Facts About MTHFR Gene Mutation: Mood Disorders
Lowered L-methylfolate or folate levels is associated with symptoms and conditions such as mental health disorders and other mood disorders, cardiovascular disease, obesity and birth defects. Folate deficiency is a major contributor to high homocysteine levels in the blood, which can exacerbate these conditions. Genetic testing can ascertain whether an individual has one of the common polymorphisms which leads to a L-methylfolate deficiency, and can verify when supplementation of this special form of folate is warranted. The following are examples of the problems associated to the gene mutation:
Inability to convert folic acid needed for good health
Lowered ability to detoxify
Greater risk of producing excess or high levels of homocysteine.
Higher risk of Heart disease
Anxiety
Anaemia
Eczema
Cracked lips
Premature greying hair
Muscle tension
Insomnia
Fatigue
Poor memory
Lack of energy
Poor appetite
Stomach pains
Depression
Autism
About The MTHFR Gene Mutation Blood Test
After you purchase the MTHFR Gene Mutation Blood Test, you will receive a simple blood test kit in the mail. The test kit comes with:
An authorized blood specimen order form that you take to your local accredited pathology for collection of your blood (Find a pathology near you here).
A blood specimen test kit for the pathology to use to collect your blood sample
Complete instructions for taking the test for you and the pathology
Test results are sent to one of our professional health practitioners within 7 business days for evaluation. Our practitioners contact you with the results and recommendations on any findings via email, mail or phone.
Symptoms of MTHFR: Neural Tube Defects
Alcohol withdrawal seizure
Autism
Cardiovascular disease: thromboembolism, artherosclerosis and mycocardial infarction
Colorectal neoplasias
Dementia and memory loss
Depression and Irritability
Elevated homocysteine
Hypertenstion
Increased breast cancer risk (women >55 years of age)
Neural tube amd other birth defects
Peripheral neuropathy
Reduced lean body mass and increased body fat
Schizophrenia
Stroke
The Main Problem With MTHFR: Folate Deficiency
Folate is a water soluble B vitamin (B9), which humans cannot make in their body and is thus a dietary requirement. Folate deficiency can result from these mutations, leading to elevated homocysteine levels and associated health risks. The primary function of folate is the transfer of methyl and formyl groups. It is essential for cell growth and reproduction, the formation of certain amino acids (methionine, serine, glycine, and histidine), the breakdown of proteins (e.g. homocysteine), the formation of DNA and RNA, red blood cell maturation, and serotonin, noradrenaline (norepinephrine) and dopamine formation.
MTHFR gene mutation makes it much harder for the body to use folate which causes problems for many of the normal chemical pathways of the body.
What do we test for?
We are testing for genetic mutations in the MTHFR gene, specifically the following mutations:
MTHFR C677T gene mutation MTHFR A1298C gene mutation
Have any questions about this test? Ask one of our qualified health practitioners here.
Test Kit and Specimen Collection
The MTHFR gene test kit is a simple and non-invasive way to collect a specimen for testing. The kit can be ordered online and includes a buccal swab or a blood sample collection device. For a blood sample, the patient can take the request form to their nearest Clinical Labs pathology collection centre. For a buccal swab, the patient can collect the specimen at home. The specimen requirements are minimal, and the patient does not need to fast for this test if a blood sample is required. However, swab specimens should be collected in the morning before eating or drinking.
Test Process and Turnaround Time
The MTHFR gene test process involves sending the collected specimen to a laboratory for analysis. The standard turnaround time for this test is 10-14 business days. Once the testing is completed, the patient results are delivered to the referring practitioner via electronic download unless requested otherwise. Results can also be issued via hardcopy or fax.
Understanding Your Test Results
The MTHFR gene test results will indicate whether the patient has a mutation in the MTHFR gene, such as C677T or A1298C. If the patient has two copies of the C677T mutation (homozygous), they are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate. A second mutation in the MTHFR gene, A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation. The test results will also indicate whether the patient may require supplementation due to certain mutations.
Personalized Health Strategies
Based on the MTHFR gene test results, personalized health strategies can be developed to address any potential health risks associated with the mutation. This may include dietary changes, such as increasing folate intake, and supplementation with vitamins and minerals. The results of the MTHFR gene test in conjunction with the patient history and presenting complaints may also indicate the need for further testing, such as the Advanced Pathways Test, to identify other potential health risks. A healthcare practitioner can work with the patient to develop a personalized health plan to address any health concerns and prevent potential health issues.
