What is MTHFR?
MTHFR stands for methylenetetrahydrofolate reductase, the infamous enzyme whose incorrect shape can make you predisposed to a long list of conditions. Though it is in the news for the all the wrong reasons MTHFR is a very important enzyme that converts folate into a more usable form called methylfolate in all the cells of the body. Methylfolate is responsible for the production of two important compounds.
First, are a class of biochemicals called neurotransmitters. They are a class of chemicals that help you think, emote and perform all sorts of physical activities. Non-functional MTHFR enzyme that results from single nucleotide changes in your DNA, will lead to low levels of neurotransmitters that in turn has consequences like insomnia, anxiety, depression, ADHD among others.
The second important compound that methylfolate helps to make is called S-adenosylmethionine (SAMe). SAMe helps to regulate more than 200 enzymes in the body. Without SAMe your body is predisposed to conditions like infertility, thrombosis, miscarriage, autism and certain forms of cancer.
An MTHFR genetic test does not require a medical recommendation. You can simply download your raw DNA data and upload it to a third party service provider to get your results. Genetic reports are generated after the analysis of different polymorphisms in the MTHFR gene and tell you which variants you carry and if your are homozygous or heterozygous for those variations. If your DNA is homozygous for the variants then it means that you have inherited the variant gene from both your parents. If your DNA is heterozygous it means that either of your parent has passed down the variant to you. Each status has its own implications depending on the type of variant and needs to be interpreted accordingly.
Now that you know the importance of being aware of your MTHFR polymorphisms, let’s compare two popular tools that provide you with your MTHFR status. These two third party tools provide you with a comprehensive MTHFR status report from your raw data from companies like 23andme, AncestryDNA, Family Tree DNA (FTDNA) and other companies.
Genetic Genie DNA Raw Data Analysis
Genetic Genie test is a DNA raw data analysis from a 23andme ancestry test. The results are free. The website performs an interpretation of your DNA raw data for only your methylation and detox profile. The detox profile looks at gene SNPs of the cytochrome P450 detox enzymes, amongst others. It is important to look at this specific information because certain genetic polymorphisms have been shown to impair detoxification of drugs, hormones, environmental toxins, xenobiotics, and more.
Image showing a section of the methylation report from Genetic Genie
To use Genetic Genie, you need to download your raw data file from the 23andMe website and upload to the website. To download your raw data is very simple. You can follow the steps given in the link above. Before you upload to the tool to test your MTHFR status it is advisable to go through the privacy policy of the website. If you want to see a sample of how the test results look, you download the dummy raw data file that is available in the website and upload it right away.
Xcode Life DNA Raw Data Analysis
Xcode Life test results are expert-curated from several large and high scientific authority databases, including UK biobank, Clinvar, OMIM, SNPedia and leading scientific journals to name a few, to curate the variant annotations. Once you upload your raw data to Xcode Life, you will get your test results within 24 hours. And you can simply download your test results and take it to your next routine health test check-up.
Image showing a section of the MTHFR report from Xcode Life

Xcode’s MTHFR reports are easily readable, understandable and implementable. The core philosophy of Xcode reports is to empower the user with actionable genetic information that they can use to enhance health and wellbeing. The report not only comes with a number of genetic variants in the MTHFR, MTRR, MTHFD and other genes, but also has detailed and practical recommendations on compensating for MTHFR deficiency.
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