So this is something that is confusing me and I've been looking to get both DIO1 and DIO2 genes tested - Paul Robinson talks about this here >> recoveringwitht3.com/blog/d... and I think in his book. He lists a number of places where you can get either or both tests for each gene mutation. I contacted him about Blue Horizon Medicals (he mentions on the page Blue Horizon's genetic profile test). So I contacted them and they told me that their test kit they do: "Blue DNA Thyroid" is a DNA Predisposition test and Paul says thats not what's needed
So next I contact ancestry.co.uk and apparently they don't test for this either and they test ethnicity and DNA matches, although in America they do apparently test. So two from the list that appear to be false?
I had wanted to test both DIO1 and DIO2 gene defects in the UK and it looks like I'd have to do Regenerus and 23 and Me seperately to get the complete package. Does anyone know if there is anywhere else either or both of these tests can be done?
Also, if anyone has tested positive for either gene defects, how was this taken by your doctor? Has it been useful in any way to acquire a T3 prescription? (Which I know has been becoming more and more difficult)
Thanks
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TheDave
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For clarity, the gene that affects T4 to T3 conversion is called DIO2 - that is, three letters and a number. Not D102 - a letter and three numbers. Not DI02 - two letters and two numbers.
The name comes from the enzyme that this gene affects which is a deiodinase. It removes an iodine atom from a thyroid hormone molecule - it deiodinates it.
On this forum we probably understand, but if you wish to look it up anywhere, it might help to get it right. If you are discussing with a doctor, and get it wrong, you are providing an excuse for them to dismiss what you say.
(More strictly, two single-nucleotide polymorphisms (SNPs) on the DIO2 gene, rs225014 and rs225015.)
Thanks. But I think I spelled the genes correctly I have the DI01 gene variant and it also affects conversion of T4 to T3. This is in the liver rather than in the peripheral muscles
Hi, Helvella my Blue horizon DNA test showed the TSH. Was red flagged . Both mother and father side.
Stating TSH would not respond to lack of thyroid hormone.
DIO1 / 2 not affected .
This did show to me retrospectively why I ‘d been so poorly prior to TT .
Do you know of any info on this to help me when seen my the Endo . I wish to pass on knowledge to her . I have a pituitary adenoma , I would have thought it had some effect , I hope to educate her so others can be saved from what I went through .
Regenerus is a full "DNA" test of DIO2 and therefore counselling is compulsory
Yes a few endocrinologists understand and recognise DIO2 significance. Some of us have found testing positive has helped get NHS prescription.....but it's a post code lottery
Some CCG areas are much worse than others. Eg Brighton has blanket ban regardless of results
Apparently Ancestry DNA test gives you your full genome sequence. But you need to get it evaluated. Post about it here
Thanks slowdragon, I contacted ancestry and they said that the ancestry DNA test that shows your ethnicity and dna matches and that is no health test available in the UK. I'll go through what you've provided, thank you.
My son did a DNA test because he was worried about his health particularly his heart. I think it said eye disease runs in the family which is true because my elderly Aunt is going blind but no heart disease. Also it mentioned he was of Irish descent (I am half Irish) and there was 10% German and 10% Swedish which I had no idea about my husband comes from Liverpool and has very blonde hair (now greyish) and blue eyes so perhaps it comes from there. This was 23andme btw.
AncestryDNA becomes more accurate the more people that test. By Irish do they mean Celtic? I was told percentage of Irish but later turned out to be Isle of Harris. Germanic very usual and swedish will be The marauding Vikings 😂.
OK, so is this the test kit that people have been buying? >> ancestry.co.uk/dna/
I'm sorry but I'm having cognitive problems and I don't know exactly what to say when querying ancestry - I thought I made myself clear enough to them that there could be no confusion- I ask if their test kit provides "Full Genome Mapping" and if you get test results in raw data and after some back and forth they say:
"The UK site is ancestry.co.uk, the offer for Ancestry Health should not be on this website. We do offer a DNA test in the UK but the results will show your Ethnicity and your DNA matches. There is no Health test on that one.
In the US both products exist."
What to do I say to avoid confusion of what I'm after- "Does your DNA test kit give me my full genome sequence?" I think I'm just going to have a repeat of last time, I'd show you the correspondence if possible. But if the test kit really does give me what I need and and I get both DIO1 and DIO2 tested I'm tempted to take a chance given my situation.
I did 23andMe full genome some years ago. In the raw data text file that you get, it's simply a list of all the SNPs that have been tested with their numbers and the result next to it. All you have to do, once you get your raw data file, is search it for the SNP number you are interested in (e.g. rs225014, and you will see your result. No counselling necessary! SNPedia has a list of all the possible outcomes for each SNP.
I did my test with MTHFR-genetics. I put thyroidUK down as thed practitioner. You have to do the work to interpret the results for the thyroid genetic mutations, but I found this was easy with SNPedia.
It also provides info on the MTHFR genetic mutation which impairs conversion of B12 into the bio a available form methylB12. There is a report on this with your results.
Raw data provides the SNPs known to affect DIO1 and DIO2.
It will show whether you have the gene mutations that mean you don't covert T4 to T3 very well, and/or the gene mutation that means you don't absorb thyroid hormones very well.
My test cost £189 from MTHFR-Genetics. I had to use SNPedia and search the raw data myself to find out whether I had the gene mutations. A word of caution, if you look, the raw data will also tell you whether you have genetic pre-disposition to developing a raft of other illnesses. If you can't handle knowing, don't look! Bear in mind that even if you have a genetic pre-disposition, it doesn't mean you will definitely develop that illness - it takes a trigger to cause the gene to be expressed so you get the illness.
You can then use this information to see it you would benefit from T3 meds. In my opinion no one should be on levo alone, as a minimum they should be on NDT (natural dessicated thyroid). I'm not medically qualified, but it doesn't make sense to me that when one has lost one's thyroid either through a throidectomy or Hashimoto's (and thereby lost the ability to produce the 25% of T3 a healthy thyroid produces), that it can be fixed by only taking T4 (aka levothyroxine). You've also lost the thyroid's ability to convert T4 to T3, which makes matters worse.
I had the DIO2 test at Regenerus Labs and was homozygous for this so I wanted to check the rest of the family out for DIO1 and DIO2, but like you have found it difficult to have both tests at the same lab, so shall go through your replies carefully! I live in Spain, so didn't go through my doctor as I knew it would be pointless as there is absolutely no way that I was going to get a prescription for T3 in Spain anyway, so had to pay extra for a counsellor to explain it to me. Good luck to you, hope you get the answers you are looking for.
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