Pernicious Anaemia Society
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MTHFR Gene Mutation Testing - Anyone here had this??

Hi everyone,

I have low B12, and have recently had loading injections. I am not feeling any better and I am considering having this test done.

I have seen a lot of people on the forums have had this test, I just wanted to check if you can have it done by your doctors? The online tests are quite pricy!! If I can avoid spending £130 I will. Is there a cheaper way of getting it done? Also do high street stores sell it?

Thank you in advance!

4 Replies

Hi sami0x,

Unfortunately my GP knew nothing about the test for MTHFR mutation. I was not surprised as it is not part of their training.

However, I went ahead and got the test done through Regenerus Labs.

I also have an underactive Thyroid and lots of people on that forum use them for a DIO2 test regarding inability to convert an inactive hormone to an active one.

It's a saliva test and simple to do. Most people on PAS forum uses 23andMe labs.

I tested positive for MTHFR and thankfully negative for DIO2.

No high street stores that I know off would do it as it is quite specialised .

As my GP wasn't familiar re these tests I had a counsellor explain the results to me. She was excellent and I requested her by name, as another member had recommended her.

The injections I got from the GP did nothing for me apart from the loading dose,

and I'm now taking Methylfolate caps and SI Methyjcobalamin.

I have to say sami0x I am taking this process very slowly. I'm aware that some

People can feel worse before they feel better. I am willing to take the chance as I know I can't feel much worse.

Please feel free to ask me anything. It is a minefield and I have just started on this

Journey but I'm feeling positive that this may be the right path.


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My GP is open to the idea due to my symptoms and high homocysteine but wasn't sure if the test was available on the NHS. I researched on the internet but couldn't find evidence of it, I think I'd have to directly contact a local hospital to find out which I haven't as yet.

You may have seen this site already, there's quite a bit of info about it:

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As someone who is also considering this test and who seems to do better on hydroxy. as opposed to methyl. - I believe some of the larger Superdrug stores sell this 23&me test in store for around £125.


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don ethe test it is a minefield an d i foun d ther are 4 types of b12 and acording to your personal mutation swill do well on one an dthe the rest


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