Pernicious Anaemia Society

Genetic Testing - Where?

Hi all, I was wondering if you could help me Im trying to determine if/where I hve faults on the methylation cycle i.e. MTHFR, MTR, or MTRR etc. My exact questions are these:-

1) Where is the best place to get tested in terms of range of testing (e.g. have positive breath test for CF but not the most common mutations)

2) Where is the best place to get tested in terms of results most likely being recognised by the NHS

3) Where is the best place to get tested in terms of best value for money (on a MASSIVE budget)

I have been showing huge signs of B12 for decades however started self medicating before NHS tests as they had left me for 7 months with macrocytosis and the last time this showed up in my bloods I had huge seizures that I nearly died from so I was not willing to risk this again.

I believe my best bet is to have thorough genetic testing that I can produce for the medical profession. I am also diagnosed with M.E. which by experts is recoginised as a mitochondrial condition and my daughter who is diagnosed with Autism. I am absolutely determined to get to the bottom of this.

Many thanks in advance to all


9 Replies

Lots of people seem to use 23andMe for genetic testing- I've not used them but the results do seem to need interpreting and unravelling

This post might help

and this link might also help


I got tested by 23andMe for genealogical reasons. It costs £125 and tests several thousand possible mutations. The results are not very easy to interpret, but the blog post that Gambit62 links to above refers to Promethease and Genetic Genie which give much better explanations.

But I'm not sure exactly why you want to be tested or what you expect the NHS to do regarding any results. Any problems with MTHFR should be easily fixed my taking methylfolate as a supplement,. But even that is only necessary for a small percentage of the population.

This video, by a real scientist, might help

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I can find no way to search for the result for specific SNPs. For example, I know I am homozygous for the 677C>T MTHFR mutation. And that I'm heterozygous for a TCN2 mutation. But I can't find a way to examine either gene on their site.

With Promethease, if you know what gene to look for it's simple to find your SNPs for that gene. Genetic Genie makes it even easier for genes related to methylation as it will look for all the SNPs on many genes and give you a summary of all your results.


I have previously researched the professor and as a scientist, I find Dr Stephen Chaney morally bankrupt. I have no confidence in him or what he has to say. Dr Chaney plays an active role in obtaining money through deception.

This video has been crafted in a way to mislead the unwitting that folic acid is better than methylfolate. From the information I’ve read, this does not appear to be the case and methylfolate would be superior to folic acid for the vast majority of the population.

Regarding methylation, genetics is only part of the story. The bigger picture is dominated by Methyl and how much you have. Over a fifth of the population suffer from under-methylation and these people would benefit from methylfolate as well as methylcolbalamin. This is a fact that Dr Chaney has left out of his video because it does not support his narrative.

Also, you could test positive for MTHFR polymorphisms but simultaneously suffer from over-methylation. People who suffer from over-methylation are the few who would benefit from folic acid over methylfolate.

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dominated by Methyl and how much you have

What is that even supposed to mean? Everybody has lots of methyl. Methyl is the chemical group - CH3 and is found in the majority of organic compounds.

Where is your reference to the 'fact' that over 20% of the population suffer from under-methylation? More, importantly, where is the evidence that this is actually a problem? Clickbait websites do not count as evidence.

I have previously researched the professor

Reading the woo-woo on clickbait websites that exist purely to sell adverts, snake-oil or books is not research.


St Thomas hospital do the MTHFR test. I was advised when I called last week that they only take GP referrals. I believe as others have suggested the 23andme provides the best info regarding overall mutations, but whether GPs will accept these results as a reliable source will depend on your GP. They had some bad press in the US which will probably be the first thing that comes up if your GP does an Internet search. I'm still struggling to get mine to understand the relevance of my high homocysteine and Methylmalonic acid tests, one of which was done by them!

Hope this helps and you find the answers your looking for. With uneducated GPs it seems many of us are left trying to find them ourselves.


Where did you get your homocysteine and MMA tested, Hels13? Was the MMA the plasma or urine test?


Hi Hillwoman, my GP surgery done the homocysteine, apparently it's rarely tested by GP so may be dependent on your area, I went armed with info on what tests I needed and had to spell it for him! The abbreviation for it is HCY. Took a month to get results back. Plasma MMA & Active B12 done by Blue Horizon at local Spire hospital the day before my loading doses. This cost a fortune and they lost my Active B12, offered to do it again but pointless as I've now had jabs. Your GP can request these through St Thomas hospital and take your blood for you to send if you can't get to London. I believe they still charge but much cheaper and I'm sure a more reliable service that your GP can't dispute. Wish I had known this before using Blue Horizon. Hope this helps Hx


Thanks very much Hels13 - very handy information. :-)


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