About Your MTHFR Test

 

At AbsoluteDNA, our MTHFR Genetic Test analyses two of the most common variants within the MTHFR gene to help provide insight into folate metabolism and methylation function.

The MTHFR gene is responsible for producing the enzyme methylenetetrahydrofolate reductase (MTHFR), which plays an important role in the body’s ability to process folate (Vitamin B9). Variations within this gene may influence how efficiently folate is converted into its active form.

Our testing screens for the following common MTHFR polymorphisms:

  • 677C>T
    (also known as C677T, c.665C>T or p.Ala222Val)
  • 1298A>C
    (also known as A1298C, c.1286A>C or p.Glu429Ala)

These polymorphisms are extremely common in the general population, with approximately 60–70% of individuals carrying at least one variant. In most cases, these variants are not considered harmful and do not directly cause disease. However, identifying your MTHFR status may assist healthcare practitioners in understanding methylation efficiency, folate metabolism, homocysteine pathways, and potential nutritional considerations.

What Is Included?

Your MTHFR test includes:

  • Analysis of the two most clinically referenced MTHFR polymorphisms
  • Laboratory processing in Australia
  • Comprehensive genetic result reporting
  • Results provided to your healthcare practitioner for clinical interpretation

Sample Requirements

We accept the following sample types:

  • Buccal (cheek) swab — preferred sample type
  • Blood sample — 4mL EDTA blood tube

Our team will provide full collection instructions and arrange your testing kit where required.

Turnaround Time

  • Approximately 4 weeks from receipt of sample and payment.

Cost

  • $275 AUD per person

Please note:

  • Medicare rebates are not available for this testing.
  • Payment is required prior to laboratory processing.

The Testing Process — Simple

Step 1 — Consultation

Book an appointment with your doctor or healthcare practitioner to discuss the test and complete the request form.

Step 2 — Submit Your Request

Return your completed request form to AbsoluteDNA together with any relevant clinical or family history information.

Step 3 — Sample Collection

AbsoluteDNA will arrange your collection kit and provide detailed instructions for sample collection.

Step 4 — Laboratory Testing

Once your sample and payment have been received, testing is performed at our laboratory facilities in Brisbane, Australia.

Step 5 — Results

Your results will be released to your healthcare practitioner within approximately 4 weeks. You will be notified once results are available so you can arrange follow-up discussion and interpretation.

Why Choose AbsoluteDNA?

 Australian-based genetic testing provider

  • Professional laboratory processing
  • Practitioner-focused reporting
  • Dedicated support throughout the testing process
  • Trusted provider of specialised genetic and molecular testing service