MTHFR Genetic Test

Everyone’s genetic identity is different. Your genetic information is known as the genome. This includes your complete set of DNA and all of your genes. 99.9% of the genomes in humans are identical; there is only 0.1% that is not. This small genome fraction is responsible for our different physical attributes.

This is why the identification of genetic variants (polymorphisms) in the human genome has increasingly become clinically significant.

Why is genetic testing important?

Preventative genetic diagnostic testing focuses on your individual risk profile by analysing your traditional risk factors and your family’s medical history. This helps to explain why you may react differently to the same environmental factors when compared to another person.

The knowledge of your genetic risk profile makes preventative medicine easier. For example, if your genetic variant shows you have an increased risk of developing prostate cancer, you will need regular prostate screenings and a nutritional diet plan.

What is the MTHFR Gene?

The MTHFR gene, technically called Methylenetetrahydrofolate reductase, is a key enzyme required to metabolise homocysteine. Homocysteine is a sulphur-containing amino acid that is normally present in very small amounts in your body’s cells.

What is the MTHFR Genetic testing and why is it clinically relevant?

MTHFR Genetic testing screens the levels of homocysteine in the blood. It is usually done as a mouth/cheek swab test.

High homocysteine levels in the blood are recognised as a risk factor for:

Coronary artery disease
Venous thrombosis and stroke
Type 2 Diabetes and obesity

High homocysteine levels in the blood have also been associated with:

Neural tube defects
Recurrent miscarriage
Autism spectrum disorders
Stillbirths
Depression and other mood disorders

The genetic variants in the MTHFR enzyme can also lead to a L-methylfolate deficiency. L-methylfolate is used for DNA reproduction and regulates your body’s homocysteine levels. L-methylfolate deficiency is not detected by standard folate blood tests.

Having low L-methylfolate levels is associated with symptoms and conditions such as:

Mental health disorders
Cardiovascular disease
Obesity
Birth defects

MTHFR genetic testing can determine whether you have one or more of the common genetic variants that leads to methylfolate deficiency. It also helps verify when and if supplementation of folate is needed.

Are you feeling sick and out of balance? Your genetics can unlock the reasons why.