MTHFR (methylenetetrahydrofolate reductase) is an enzyme crucial for processing folate, which is vital for DNA synthesis, detoxification, and neurotransmitter production. Certain genetic variations in the MTHFR gene can reduce enzyme efficiency, potentially impacting overall health.

There are several signs and symptoms that might suggest a problem with your methylation cycle or a possible mutation in genes such as MTHFR. You may want to explore testing if you:

1. Have ongoing fatigue or just don’t feel well, despite normal test results and reassurances from various health professionals.

2. Have a personal or family history of conditions like cardiovascular disease, anxiety, depression, recurrent pregnancy loss, immune dysfunction or autoimmunity.

3. Have female relatives who have experienced multiple miscarriages or given birth to children with neural tube defects, cleft lip/palate, or Down syndrome.

4. Have oestrogen-dominant conditions like fibrocystic breasts or ovaries, heavy periods, fibroids, endometriosis, or severe PMS.

5. Have a family history of cardiovascular issues such as high blood pressure, high cholesterol, stroke, heart attack, or deep vein thrombosis.

6. Have a personal or family history of depression, anxiety, bipolar disorder.

7. Suffer from allergies, asthma, hives, or frequent migraines.

8. Have been diagnosed (or have family members diagnosed) with ADD/ADHD or learning difficulties.

9. Struggle with inflammation or concentration issues.

10. Have abnormal blood test results, such as:

• Elevated liver enzymes

• High red cell folate

• Low B12 levels

• High homocysteine levels

11. Experience chronic constipation or diarrhoea.

12. Feel dizzy regularly or without clear cause.

13. Are taking medications known to deplete B12 and/or folate, including:

• Antacids

• Methotrexate

• Metformin

• Oral contraceptives

• Cholestyramine

• Nitrous oxide

• High-dose niacin

• Phenytoin

• Trimethoprim (e.g. Bactrim)

• Sulfasalazine

• Theophylline

• Cyclosporin A

• Triamterene

• Antimalarials

• Ethanol

If any of these apply to you or a close family member, it may be worth discussing MTHFR gene testing and methylation support with a qualified practitioner.

Methylation is the process by which your body transfers one set of atoms into a series of amino acids, proteins, enzymes and DNA in each and every cell and tissue in your body. The process of methylation is involved with activities such as:

• Detoxification

• Repairing and building DNA and RNA

• Processing hormones

• Building immune cells

• Producing energy

• Repairing cell membranes

• Turning the stress response on and off

• Supporting neurotransmitters – the brain’s communication chemicals

• Supporting fat metabolism

Methyl groups in your body are the ‘on-off’ switches of the cells activities. As your cells are then responsible for all tissues and organs in the body, it is vital they are healthy and working as optimally as possible.

Anything upwards of 45-50% of the general population have some kind of mutation on one of the MTHFR genes.

You can undergo genetic testing through our clinic. We offer at-home test kits and in-clinic testing options. If you're working with a doctor, discuss testing options with them. Tests ordered through naturopaths or nutritionists are not covered by Medicare. We recommend the SMARTdna advanced pathways test:

https://mthfrsupport.com.au/smart-dna-genomic-wellness-test-plus/

A positive MTHFR result means something different for everyone. Having a gene mutation doesn’t automatically mean you’ll develop health problems—it depends on whether that gene is being “expressed.”

Gene expression can be influenced by many factors, including stress, diet, toxins, and your overall environment.

If you’re living with a chronic condition or simply don’t feel your best despite normal test results, your gene may be expressing in ways that affect your health.

This is where expert guidance matters. Our clinic specialises in helping you understand your genetic results and how to support your body through targeted, personalised strategies.

Book a consultation today to start making sense of your results—and take the next step toward better health or email our reception team : [email protected] or call +61 2 9908 1888.

The cost for MTHFR testing is approximately AUD $130. Consultation fees vary based on the type and duration of the appointment. Please click here to see our Genetic Health Package costs clinic page

Appointments can be scheduled online through our https://mthfrsupport.com.au/mthfr booking-portal/ or by contacting our clinic directly at +61 2 9908 1888 or [email protected].

Yes, we provide online consultations via Zoom for patients who are regional, interstate, or international. Please indicate your preference when booking.

Our team of naturopaths and nutritionists specialises in personalised care, focusing on genetic susceptibilities and biochemical imbalances. We utilize functional testing to develop individualized treatment plans.

Treatment duration varies per individual. A general guideline is to allow one month of treatment for every year you've experienced a condition. However, many patients notice improvements within weeks.

Absolutely. With your consent, we can provide your doctor with detailed information about your treatment plan to ensure cohesive care.

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