What is being analysed?

The analysis focuses on detecting mutations in the MTHFR (methylenetetrahydrofolate reductase) gene. Variations in this gene can affect the body's ability to metabolise folate, leading to potential health implications.

What does the result mean?

The result indicates whether an individual carries mutations in the MTHFR gene. Depending on the specific mutation detected, there may be implications for folate metabolism and increased risk of certain health conditions.

Why do the analysis?

Analysis of MTHFR mutations is important for understanding an individual's risk of developing conditions such as cardiovascular disease, neural tube defects, pregnancy complications, and mental health disorders.

When to do the analysis?

The analysis may be recommended in various clinical scenarios, including family history of MTHFR-related disorders, recurrent pregnancy loss, neural tube defects in a previous pregnancy, or unexplained symptoms suggestive of folate deficiency.

What sample is required?

A blood sample is typically required for MTHFR mutation analysis. In some cases, buccal (cheek) swabs or saliva samples may also be used.

Is any type of prior preparation necessary?

No specific prior preparation is usually necessary for MTHFR mutation analysis. However, it's important to follow any instructions provided by the doctor regarding fasting or medication use before the test.

How is it used?

The analysis of MTHFR mutations helps doctors to assess an individual's risk of certain health conditions and may inform personalised treatment and prevention strategies. It can also guide decisions regarding the use of folate supplementation or other interventions.

What are the normal values?

There are no "normal" or "abnormal" values for MTHFR mutation analysis. Instead, the presence or absence of specific mutations is assessed, and their clinical significance is interpreted in the context of the individual's health and family history.

What does it mean to have altered values?

Altered values in MTHFR mutation analysis refer to the presence of mutations in the MTHFR gene. Depending on the specific mutations detected and other factors, such as lifestyle and environmental influences, these alterations may increase the risk of certain health conditions or affect the body's response to folate supplementation.

Understanding MTHFR mutations and their implications can help individuals and healthcare providers make informed decisions about healthcare and preventive measures. If you have concerns about MTHFR mutations or related health conditions, consult with a healthcare professional for personalised evaluation and guidance.