Hi everyone,
I hope you all had a good Christmas!
Does anyone know whether there's any point in getting this test?
bluehorizonmedicals.co.uk/t...
Do you think normal doctors/endocrinologists will have any interest in the results or will it just be for my own information?
Thanks!
I have recently done this test & it has confirmed what I have suspected for a long time.I have inherited the D102 gene variant from both parents,explaining why I do better adding T3 or on NDT.It confirms that I am genetically poor at processing stress biochemically.
Hope you will get some responses as to whether it helps a case for NHS T3.
The last endo I saw was impressed I knew about the D102 gene,but said it was not relevant to my issues of fatigue,depression & anxiety LOL.I gave up on the NHS after him,as he withdrew my T3 & wanted me to REDUCE the dose of thyroxine I had previously used for 16 years,before huge improvement on T3.
I now buy my own NDT,
Thanks so much for letting me know your experience of this. Despite having very high thyroid antibodies I still have yet to find a doctor to actually diagnose me with a thyroid problem, but it sounds like it could be useful for my own information.
Thank you!
You have Hashimoto's if you have positive antibodies. Most doctors don't know a thing about it, autoimmune diseases, or let alone about thyroid disease in general. Have you had complete thyroid testing: TSH, Free T3 and Free T4? If you can post your results and the lab ranges, someone can help you interpret your numbers.
I have done complete genetic testing. I have Hashimoto's, but I am not positive for the DIO2 gene. I take T4 and T3. No way would I ever just get by on just T4!
I haven't had a full set of thyroid tests done for ages, since I first ordered them for myself a couple of years ago which finally proved to me that I have a thyroid problem and wasn't just lazy!
The full thyroid panel is what I was going on to blue horizon to order when I was the genetics test and wondered whether I should get that.
I'm starting to think I should just order the complete thyroid test for now and the genetics test at a later date.
That would be the most direct. The FT3: rT3 ratio will tell a story.
Get the thyroid and vitamins blood test at this stage
As you have Hashimoto's low vitamins are extremely common
For full Thyroid evaluation you need TSH, FT4 and FT3 plus both TPO and TG thyroid antibodies tested. Also extremely important to test vitamin D, folate, ferritin and B12
All thyroid blood tests should ideally be done as early as possible in morning and fasting. This gives highest TSH, lowest FT4 and most consistent results. (Patient to patient tip, best not mentioned to GP or phlebotomist)
Private tests are available. Thousands on here forced to do this as NHS often refuses to test FT3 or antibodies or vitamins
thyroiduk.org.uk/tuk/testin...
Medichecks Thyroid plus ultra vitamin or Blue Horizon Thyroid plus eleven are the most popular choice.
DIY finger prick test or option to pay extra for private blood draw. Both companies often have special offers, Medichecks usually have offers on Thursdays, Blue Horizon its more random
If antibodies are high this is Hashimoto's, (also known by medics here in UK more commonly as autoimmune thyroid disease).
About 90% of all hypothyroidism in Uk is due to Hashimoto's.
Low vitamins are especially common with Hashimoto's. Food intolerances are very common too, especially gluten.
Link about thyroid blood tests
thyroiduk.org/tuk/testing/t...
Link about antibodies and Hashimoto's
thyroiduk.org.uk/tuk/about_...
thyroiduk.org.uk/tuk/about_...
List of hypothyroid symptoms
I had high antibodies on diagnosis in 1998.My antibodies are quite low now,having had them tested by Medichecks in October.
I am not GF but I do take NDT & LDN.I have been supplementing T3 & LDN for over 3 years.(first by adding T3 to my T4,then by using T3-only,& now NDT)
british-thyroid-association...
There is a section on genetic testing in these guidelines.
Thanks, that's really helpful and very interesting.
Hi Cabbagewhite, I am not medical and struggle a bit with documents like this and need a bit of help with translation into simple terms. I have read it and it's table 9 that concerns me... I've copied table 9 here....
Question
Guideline Recommendation
Strength/Evidence
Could it be that trials comparing L-T4 and L-T3 combination therapy and L-T4 monotherapy have not targeted the right population?
ETA Limited data suggest that psychological well-being and preference for L-T4 and L-T3 combination therapy may be influenced by polymorphisms in thyroid hormone pathway genes, specifically in thyroid hormone transporters and deiodinases
2/+00
Should genetic characterization according to type 2 deiodinase gene polymorphism status be used to guide the use of combination synthetic L-T3 and LT4 therapy in hypothyroidism, in order to optimize biochemical and clinical outcomes?
ATA Currently, genetic testing is not recommended as a guide to selecting therapy for 3 reasons. (i) Although there are data suggesting that specific polymorphisms of the type 2 deiodinase gene might be associated with therapeutic response to combination synthetic L-T3 and L-T4 therapy, controlled confirmatory studies are needed. (ii) Currently, genetic testing for these specific deiodinase polymorphisms is only available in the research setting. (iii) Thesmall effect of the type 2 deiodinase gene variants identified so far that do affect thyroid hormone concentrations suggests that other factors (e.g. yet unidentified genetic variants) may play a far greater role in determining an individual patient’s thyroid hormone concentrations
........
To me it seems like a contradiction - the first question is saying there is a link it's just not proven on a big enough scale, but then the second question is saying there is no point in looking at your genes to see if you have the mutations. I'm guessing this is type of statement that causes GPs/endos to disregard the genetic status, and therefore not consider T3 therapy?
I wanted to use this document with my GP but figured it actually undermined my case for T3.
I am not that up on genetic testing, but recalled reading this section, when I was looking for some other information. My interpretation is, that the authors of the various national guidelines did not consider there to be enough evidence yet to recommend routine gene testing (ie on nhs). Presumably that could change in future if there is more research supporting this. I think they are saying that T3 should be considered in selected patients, but there may be other factors involved and the genetic test results may not show the whole picture. So if someone did not have relevant polymorphisms, presumably it should not preclude them from a trial of T3 and if they do, if appropriate they also could be prescribed (CCG allowing). I have no idea how much an endocrinologist would pay attention to a private blood result, but presumably most are aware of some of the research/literature and may refer to these guidelines.
Thanks Cabbagewhite x
I did the Regenerus DIO2 test - (before Blue Horizon test was available) certainly helped in persuading GP on keeping my NHS T3 after initial 3 month trial from Endo
Considering doing this wider test - for self interest
Some endocrinologists recognise this - others think it irrelevant
Hi, I'd imagine I will probably find it hard to find one to take it seriously (I have yet to find one who is at all interested in my antibodies!) But I might just do it for my own interest. I'm not sure whether I have other autoimmune diseases (I know I at least have parietal cell antibodies but doctors say that's fine) or whether the Levothyroxine just isn't working...
Thanks so much for your help!
If you have positive parietal cell antibodies, you might have Pernicious Anemia, which is autoimmune B12 deficiency. Have you tested your intrinsic factor, too? How are your B12, folate, homosisteine, and methylmalonic acid (relates to B12)?
Thanks so much for your response.
I've been tested for intrinsic factor antibodies twice and both have come back negative (although I know you can get false negatives), my b12 was around 300 which the doctor said was fantastic. I pointed out to her that in other countries that would be deficient and she said that if I cared that much I should take b12 tablets. Since then I've been using transdermal b12 oils that I bought online from Australia, because I figured with the parietal cell antibodies I probably wouldn't absorb them well taken in tablet form.
My folate just seems to get lower and lower every test that I have, so in the last one I was right at the bottom of the range. I have been supplementing with good quality folate for a couple of months since starting the b12 oils so hopefully this will have improved. And I'm eating liver once a week.
Homosisteine, and methylmalonic acid, I don't know... I'm not sure I've ever been tested for those. Is that the type of thing an NHS doctor would test or do you think I should buy these online?
Unfortunately there's not much that I've found online about the importance of the parietal cell antibodies, and because on the blood test results it says next to it that it can't be used to solely diagnose PA the doctor said the result is utterly meaningless! It's so frustrating!
Thanks again!
Private testing for MMA and homocysteine
Not available on NHS unless GP will refer to St Thomas's in London
nutris.viapath.co.uk/pages/...
Thanks, I'll get these tests (along with the full thyroid panel) instead of the genetics test for now... Have I messed it all up because I've taken b12 supplements though?
Thanks again for your help.
It can only be a help if you prove positive for the tests of course, but remember that returning a positive result is not a diagnosis. A genetic variation may not necessarily be expressed, and even if it is, may effect you anywhere between a good deal to not at all. Drs may or may not understand the implications of testing positive, and/or may not be sufficiently moved by the results, to change treatment course; or they may. There's no second guessing tbh. In my case, both my Endos appreciated why my having had my T3 withdrawn by the GP/CCG impacted me as it did, given my positive DIO2 test, and both have written asking that it be reinstated, to absolutely no avail ....
Thanks so much! I'd imagine I won't find a professional to take it seriously but it might give me some answers for my own knowledge... I'm determined 2019 will be the year by health improves.
Thanks again!
I had this done and returned several positive results however my nhs endo labelled it as money grabbing saying that there is no evidence of links between the genes and hypothyroidism. Still not convinced that this is true but she did agree to start treating me so I thought I’d just bite my tongue haha. I still found it interesting to understand what genetic factors could have influenced the hypothyroidism though 
Thanks, that's really interesting. I'd imagine that this is the reaction I will get as well... I find it very hard to get any sort of interest from any of the doctors of endos I've seen. But it might bring me closer to understanding why I'm not feeling better on Levothyroxine!
Thanks again for your help!
If you're not doing well on T4, you might have problems converting T4 into T3. This can be common for people with Hashimoto's.
I looked at the genetic variants for which they test and it's somewhat limited in the DIO1 and DIO2 category, as there's certainly more than two variants of concern. I have a DIO1 that prevents me from converting T4, so I have to take T3. I bought the 23andMe health and ancestry package and found the variants myself by searching my raw data. This vendor's website describes what to search for in the raw data -- i.e., DIO1, DIO2, etc -- so that's helpful. I only knew to look for DIO1 and DIO2. I then did a web search on the rsXXXXX number listed for my personal variants. In the end, the tangible evidence of my striking ability to produce rT3 when given levothyroxine was what prompted me to suspend the levo and take liothyronine exclusively.
Unfortunately, many professionals don't understand rT3 and never bother to test for it. And they never check SHBG, which is the only indicator of cellular energy levels from T3. The plasma tests are just plasma tests, and hypothetically suggest what MIGHT be available to your cells, assuming you don't have a common genetic variant that makes you feel lousy on levothyroxine.
Best of luck!
RockyPath You have studied and researched in great depth. I take my hat off to you; it must have taken many hours of energy.
I had loads of hours whilst languishing on my bed unable to get up and move around!
Aha, I see... I will do some research and maybe should do the same test that you did then. I'm so foggy headed these days, I have to admit that anything even slightly scientific is completely lost on me in a way that I don't think it would have been a few years ago.
Definitely why I don't feel better on Levothyroxine is the answer that I want... My suspicion is that it's other autoimmune diseases but I'm totally lost about how to go about finding out what they are!
Thanks again for your help!
Fog sounds very familiar— rT3 produces impressive density of fog. Genetic variation will give autoimmune antibodies for which they don’t test.
Hi RockyPath, I'm looking at the Blue Horizon thyroid test sample results and it shows results for COMT, DIO1, DIO2, FKBP5, PDE8B, TNF-a, TSHR and TRHR.
bluehorizonmedicals.co.uk/m...
I have genetic raw data from 23andme from a while ago so I can go and look at my individual results. Do you know, or can you point me to something that would explain what snp's I should be looking at, and what the normal/variant status is? For example I figured out my DIO2 status using rs225014 where I have the mutation on C, but I've not looked at the other results.
Thanks x
Aha, I think this might be what I was looking for...
geneticlifehacks.com/thyroi...
Lists all the genes, snps and mutations.
Sometimes that one is very helpful, yes.
The raw data can seem terribly obscure, particularly when overcome by hypothyroid brain fog and extreme fatigue. What I concluded to be the simplest way to pursue this is as follows (I use a mac, so I use notes and then my notes are accessible from laptop or iPhone, or anything else in the ecosystem):
1. Any single nucleotide polymorphism (snp) that shows up when you search raw data for DIO1, DIO2, etc., is a variant, plain and simple. There are nuances to the variants, but each is a recognized variant. Congratulations! Now to learn its impact.
2. Clicking on the rsNNNNN link will cause you considerable consternation while trying to fathom the arcane terminology. Suffice it to say, if you have something come up in the raw data, you have something. You can go down lots of rabbit holes trying to determine if your allele (i.e. A/A, A/C, A/T, .....) is the major or the minor. You will want to keep track of your allele along with the snp number.
3. Copy the list of your snps from the web page to notes (Notepad in Windows). Make sure the rsNNNNN is displayed as text and not a link, as the link will keep taking you back to the master snp database. Get the allele information for you. I keep it in a table, with a further column for summary notes.
4. One by one, do a search on your snps, copying the rsNNNNN number and pasting into search bar. You may hit the jackpot, finding multiple clinical research articles on your particular snp, or a small payout with a large research effort mentioning your snp along with a host of others, or finally, absolutely noting yet, but perhaps something in Chinese.
5. The clinical articles will discuss the findings, which can be written in a terribly convoluted way that makes it difficult to comprehend with a thick brain fog. In this case, copy the abstract to your notes, along with the link. When you can think more clearly, you can review again, or keep reading over and over, as I had to do.
6. Some articles refer only to the "major" or "minor allele" and their different impacts, which makes me want to scream, but usually you can find out which is the major by further searching of additional articles on that snp. The judgment of major has to do with population pools across the planet and how often a of particular allele (A/C, G/T, etc) of a particular snp shows up within various populations. This is displayed in the master gene database that you get when you click on the rsNNNNNN within 23andMe. If you scroll down quite a way there is a population report, usually. Then you'd have to consider where the authors were studying cases in making their assignment of major and minor. In the USA, the prominence of the LDS church and its keen interest in genealogy has produced a lopsided sample of white people from Utah in the snp database for the United States.
7. If a snp has been studied heavily, the clinical discussion will specifically reference individual alleles and their impacts, instead of just saying "major allele." This makes life simple. If you cannot find a simple answer, it could be nobody has published anything yet.
8. Sometimes a snp is so heavily studied that it has its own name. For example, rs11206244 is known as D1-C785T. You can then search on that name, instead of the rs and possibly come up with more focused information.
9. If you get a lot of articles returned for a snp, you can add your allele after it, such as rs2235544 A/A, one of my snps that kindly enables me to take T4 and underproduce T3 and overproduce rT3.
10. Always, always, always, copy pertinent notes from the articles you see, and copy the links to them as well. When attempting research under the weight of brain fog that feels like having been struck in the head with a hammer, one needs to keep a clear research trail and detailed notes for future review, and re-review, and re-review, until you crawl out from under the symptoms and stand in the clear light of happy, fully-powered cellular metabolism.
Wishing you well in your search.
Wow... I'm so impressed!
I think I'm going to put getting the genetics test on hold and prioritise the full thyroid panel and Pernicious Anemia tests. I will come back to this though so i will use this post to try to guide me through it.
Thanks so much for your help!
Thanks RockyPath. That's quite an undertaking! x
I paid for the Regenerus DIO2 gene test back in January 2017. It returned as a faulty gene from one parent (heterozygous) as I expected. I used the print out to keep my T3 only prescription which I had had since c.1995. The endo's pulled faces & didn't like conceding but I used that result to sway my case. If you can afford it, I consider it well worth doing
Hi, thanks so much for letting me know your experience. It's great to know that some endos do take these things into consideration (even if they aren't happy about it!)
Thanks again!
I had similar experience to marigold22 that the positive Heterozygous DIO2 gene test helped in securing ongoing prescription on NHS
Endocrinologist knew all about DIO2 gene
Blue Horizon Tests for Thyroid - Need some advice
Methylation DNA & thyroid 
Blue Horizon complete thyroid test-does anyone recommend?
DIO2 Genetic Test and other genetic tests
Found this on Thyroid UK - DIO2 Genetic Test
