DNA/gene testing recommendations

[Maztee]

Hi I have searched on here about testing for D102 and everyone that I've seen who's had the test done seems to have trouble interpreting the results though presumably they don't post if they haven't had trouble. So I'm wondering if it's worth having the DNA test done? I think someone suggested Ancestry DNA for testing too but does it provide a list of your genes.? I read an answer to this but can't find it now. Has anyone had one of these done and understood the results?

[SlowDragon Administrator]

Regenerus does testing

thyroiduk.org/deiodinase-2-...

regeneruslabs.com/products/...

sample report

cdn.shopify.com/s/files/1/0...

[Jaydee1507 Administrator]

Ancestry DNA is a relatively cheap way of testing all of your DNA but you would need some basic savvy about using your computer to find and download the resulting file.

Once you have the file you can upload it to either a free analysis site or there are a few fairly low cost ones that then pick out any functional issues that are indicated by your DNA. None of these are life changing like cancer for instance, but can be useful to know if you have MTHFR SNPs etc

Once you have the raw data file you can also manually search for the SNP numbers as per this useful article by Paul Robinson.

paulrobinsonthyroid.com/dio...

[Maztee in reply to Jaydee1507]

Thanks. I'm pretty good with my data and have a son who's even better so I'll compare prices...

[Jaydee1507 Administrator in reply to Maztee]

Doing an Ancestry test also gives you family information etc so is an added bonus.

I used this site which was fairly low cost and had been recommended on here to upload and analyse my data. It doesn't include DAO2 though so hence the manual search for that.

mthfr-genetics.co.uk/

[Brightness14]

I had mine done by Regenerus five years ago and still haven't a clue what it means.

[Maztee in reply to Brightness14]

It looks from earlier replies as if you can go on certainwebsites to decode it. Worth investigating?

[Brightness14 in reply to Maztee]

OK thanks for that I will take a look.

[helvella Administrator]

Try searching for DIO2 (dio2) three letters and a number. The name is based on DEIODINASE 2.

For example:

healthunlocked.com/thyroidu...

The Wiki article has a number of links which might be helpful:

en.wikipedia.org/wiki/DIO2

[Maztee in reply to helvella]

Thanks🙂

[Nomad12]

I have also been researching where to get the test done, I emailed mthfr-genetics to find out if their test included included the DIO1 and DIO2 but they haven't responded as yet. The test they offer sounds like the results would be so interesting on so many health levels but obviously no good if they don't include the thyroid part we need. Hopefully they reply soon.

Update, just got the this email response from mthfr-genetics.co.uk/ : The raw data file we provide with each set of results, does indeed contain DIO1 and DIO2 variants.

Good news, think I am going to give this one a try.

[Maztee in reply to Nomad12]

How much is it? I may take a look if it's reasonable

[Nomad12 in reply to Maztee]

At the moment the mthfr costs £129 (on offer). The Blue Horizon one is slightly cheaper if you use Paul Robinsons discount code (Jaydee1507 posted the link).

[mrskiki in reply to Nomad12]

I had blue horizon one when first diagnosed, and got me interested, then did the mthfr last year, twice the price but covers more and I wanted the raw results to put away for reference.

[Jaydee1507 Administrator in reply to Nomad12]

When I ran my ancestry DNA raw data through their analyser it didn;t pick out DAO1 & 2, I had to search for those manually. See the Paul Robinson link I posted further up the thread for details.

Maztee

[Maztee in reply to Jaydee1507]

Yes I've had a good look at that today and looked at his blogs etc in more detail. I've gone for the ancestry one but it'll be quite a wait - 6-8 weeks for the results then to work them out! In the meantime I've done the blue horizon thyroid bronze with cortisol and magnesium and having read those blogs etc I have found that they are what I need to know as it's possible I have hyperparthyroidism. I have high calcium and high in range PTH, low vit D which is now in the 80s but only through 10 years of supplementation. It drops if I stop taking it. Magnesium hasn't been tested but is a missing piece but all of those should be tested at the same time 😕 I am at a loss as to why gps and endos can't just read up on these conditions and do their jobs. It can take decades to feel well and we are doing the work ourselves 😡 I know they can't know everything but they're meant to have enquiring minds as scientists....

[Jaydee1507 Administrator in reply to Maztee]

The Ancestry thing alone is quite fun and you can do as much or as little as you like with it.

No doctor has training in nutrition unfortunately. Its like most of them think it has no place in medicine and only their pills will help. Totally wrong of course and maybe one day they will learn.

[Maztee in reply to Jaydee1507]

Yes I realise that but you'd think they'd have picked it up, as we have and we can now get B12 Folate and D3 tested...

[mrskiki in reply to Jaydee1507]

With mine after cross checking the raw data for thyroid with my previous Blue horizon report I looked up hair and eye colour genes, but haven’t got much further!

[Maztee in reply to mrskiki]

InterestingIn my family of 6 I was the only one with green eyes. Only 2% have green eyes. Of my children 3 have green eyes, one has blue as does their father. Interesting to see it in the next generation and the influence of brown eyed fathers: one blue eyed (may change to green as under 1), 3 green, 2 hazel and one brown. I did this at uni but can't remember a lot. I can see it could be fun with various characteristics to go backwards if it's possible. With diseases it often requires environmental exposure too. We were all exposed to irradiation (Windscale/Sellafield and Chernobyl) but so far only me and my eldest daughter have had thyroid cancer 🤞

[mrskiki in reply to Maztee]

Yes my my mthfr report had lots of bright red on it to indicate increased risk for autoimmune, vit D problems and inflammation tendencies etc, it was a bit sobering at first but as you say its only increased risk, and many other factors to consider as I’m also genetically ‘ red’ for all areas saying high ldl cholesterol and triglycerides / low dhl , yet consistently I’m the other way round in my blood results with high hdl ( so far!)

[Maztee in reply to mrskiki]

Interesting! I have high cholesterol purported to be genetic but with no tests so far. I guess I'll find out!. I have positive ANA (and supposedly Sjogrens Syndrome) and my son was found incidentally to have positive ANA so I guess he can presumably find ways to reduce his risks through diet.

[Maztee in reply to Jaydee1507]

I've had the test done. Through Ancestry - under £100 - and I have the raw data too. I converted it (with help of son) sor that I could searched for the DIO1 and DIO2 genes and the MTHFR gene and I have the 2 DIO1 variants - one homozygous and the other heterozygous, normal DIO2 and the MTHFR gene though I know that's more complicated but reduces folate and possibly B12 absorption by about 40% I believe therefore will affect T4-T3 conversion too.

It certainly explains why I need T3 so that's the next battle. I'm in Somerset and apparently the CCG (I assume) have a rule not to provide it!

[Jaydee1507 Administrator in reply to Maztee]

CCG's are now clled ICB's I believe.

I can't find their formulary page for liothyronine but this says they don't routinely prescribe it, which is standard. Just means you have to make a special case for it with an Endo. formulary.nhssomerset.nhs.u...

According to openprescribing.net there are some people being prescribed T3. If the NHS is an issue could you use an online or private prescriber?

openprescribing.net/analyse...

[Maztee in reply to Jaydee1507]

Well that's what I'm about to try. I have a private GP' s details someone recommended on here but it's a 2 month wait and she wants payment now which isn't a good time financially! Just waiting for someone to tell me of their NHS endo who prescribed it as I was already at that hospital seeing another endo who said they didn't routinely prescribe it but would ask but I never heard back so perhaps I could use that as a way back in to that department 🤞