UK testing for MTHFR mutations - Pernicious Anaemi...

Pernicious Anaemia Society

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UK testing for MTHFR mutations

Sleepybunny profile image
6 Replies

Hi,

Just wondered if any of you could recommend where I could get private testing for MTHFR mutations in the uk.

I found one website that could test for C677T mutation. What other common mutations might be worth testing for?

Thanks

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Sleepybunny profile image
Sleepybunny
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6 Replies
Marz profile image
Marz

Maybe there is some advice on the MTHFR website - or you could ask the question there. Mine keeps coming up in Greek !

NJMommy profile image
NJMommy

Hi Sleepybunny,

I'm in the US and I've recently heard of the MTHFR mutation. I thought it was only for thyroid. Would you be able to pass along some info regarding this mutation and PA?

Thanks, anything that could possibly help us feel better would be a god send!!

Holly10 profile image
Holly10

Hi, the '23andme' people do DNA testing but I don't know if this would include what you need. Please keep us informed on what you may find because I would like to find out my status on MTHR. good luck

Holly

Karelli profile image
Karelli

Hi,

It is known that an MTHFR mutation can be another cause of B12 deficiency besides PA; therefore if you are not diagnosed with PA then it's a possibility that you have an MTHFR mutation. 23andme have done DNA testing in the US for a long time but have recently launched in the UK under 23andme.co.uk - I believe it costs around £125 to get the test done. The results you receive are in raw data and then you have to get it translated into laymans terms! There is a site that will do this but the name escapes me at the moment ( surprise surprise - my memory is not always what it should be!)

B12 deficiency runs in our family on my maternal side and my sister (who does not suffer but has had IVF) has recently been diagnosed with 1 MTHFR mutation which means either one/ or both of our parents are carriers but it's likely to be our mother. I will therefore be getting this test done myself - I just need to get the money together!

If you haven't done so already it is worth reading the book "Could it be B12" by Sally Pacholok

I hope this helps and good luck!!

Karen

NJMommy profile image
NJMommy in reply toKarelli

Hi Karen, thanks for the info. I do have PA, so not sure if testing is worth it for me but will talk to my md

illnesswhatillness profile image
illnesswhatillness

I think that there is GP6D ( not sure I have the letters in the right order ) . There is a mutation on the 13th chromosome . There is a cofactor for : methionine synthase & 1-Methylmalonyl- coenzyme A mutase - necessary for development and initial myelination of CNS .- check out Neuromuscular -vitamin , mineral& nutrition related syndromes . Happy reading !

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