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MTHFR-Buccal Swab (Test Code 5018)

Collection Method

Buccal Swab

Turn Around Time

7-10 business days


MTHFR Gene Test Buccal Swab

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate. Specifically, this enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

MTHFR is essentially short for Methylenetetrahydrofolate reductase. The MTHFR gene test is a useful and powerful assessment to obtain information from for a variety of health conditions. However, one of the main roles of methylenetetrahydrofolate reductase is simply because it is a key enzyme required to metabolise homocysteine. If you are tested positive for certain mutations such as C677T which is the most common gene that is seen in most people then supplementation may be required for this. Individuals with two copies of this mutation, e.g. one inherited from their mother and one from their father, are called homozygous.

Patients who have homozygous are predisposed to developing high blood levels of homocysteine, particularly when their diets are low in folate. A second mutation in the MTHFR gene, called A1298C, has also been implicated in high blood levels of homocysteine when found in conjunction with the C677T mutation. The MTHFR gene test at NutriPATH can be measured by blood, blood spot or a buccal swab.

Common Conditions:

  • Anxiety
  • Insomnia
  • Fatigue
  • Depression
  • Autism

Test Method

Real Time PCR- Poly Chain Reaction


(Methylenetetrahydrofolate reductase) C677T & A1298C SNPs

Notice To Patients

NutriPATH practices in the usual practitioner-referral system for pathology laboratories.Patients are highly recommended to seek the supervision and guidance of a qualified healthcare practitioner for the interpretation of any lab results and associated information. NutriPATH can offer assistance in locating a suitable practitioner

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NUTRIPATH offers more tests than any other integrative medical laboratory. With more than 200 tests available, it is the anti-aging and integrative medical practitioners’ one-stop-shop with assessments that investigate endocrine, gastrointestinal, immunological, genomic, metabolic and nutritional balance.

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