DI02 Gene test results

Has anybody paid for the DI02 gene test? I paid the £60 instead of the £120 meaning that my results were sent to my GP. The company said that any GP should be able to understand the result, my GP said she couldn't and to take the results to the endo I was seeing. The endo has just said what I've been sent does not say the result and proves nothing, if I send her proof she will prescribe T3.

The result on the piece of paper I have in front of me says - Result - Homozygous variant genotype AA

Does anybody know what this means? Do I have the faulty gene that means I don't convert T4 to T3?

Thank you!

14 Replies

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  • The study compared CC genotype with TT genotype and found minor impairment in those with CC. AA genotype is not CC and so you do not have the polymorphism which was associated with impaired wellbeing on L-T4 therapy. (I'm being picky but it's not a faulty gene, just a normal variation, a polymorphism.)

    The endo. is not bright as it does 'say the result', the result is AA. Ask the endo. to prescribe a three month trial of L-T3. If you improve you will have the proof. Ask them for the proof that L-T3 will not work if they get difficult.

  • Thank you for your help. The endo was extremely rude and dismissive today, point blank refused any alternative treatment to Levothyroxine without proof of faulty gene. Was a very frustrating appointment!

  • this is exactly the same result as I received last December, I managed to print the report and took it to my gp. who said that he had not seen anything like this before, but referred me to an endo ( something that I had been asking for ) I will use some of the items in my report This genetic substitution is associated with insulin resistance and obesity especially in the homozygous variant.and circulating insulin is increased.significantly. patients on t4 only might be affected in their psychological well-beingl I am waiting for my next apt in 3 weeks my dose of t4 is 150mcg daily and in my first report I was told that I was overtreated with TSH (0.01) and Ft4 22 and Ft3 4.6 but not to change my dose I suspect that the next investigation is in to secondary hypothyroidism. I was pleased that I had the genetic test as the printout proved that I was not dishonest in my complaints as the last time I saw an endo was in 1967 age 27 and in a coma. the only way I managed to increase my t3 was with a very large dose of t4 when in middle age when I was diagnosed with spontaneous hypoglcaemia

    .

  • Charlie'scat- I did the test and my result was TA. - heterozygous - so I had some evidence of decreased ability to generate T3 and have since started taking NDT which is transforming my Hypothyroid Life.- no prescription help from NHS GP (or Endo in the past ) so self medicating.

    Good luck - it's worth trying everything available til you find what works for you

  • hi

    this is a really interesting thread; the first time I've heard or this genetic test. I would like to understand more ( I was told by dr Peatfield that my deoidonase

    enzymes had failed) as am wondering if this could be an issue in those whose thyroid levels report 'normal' but have hypothyroid symptoms - my brother and sister for example

    can you point me to a good source of info?

    thanks

  • Hi,

    I have been searching posts on DI02 gene and came across your post.

    Have you considered thyroid hormone resistance as a possibility for you, your brother and sister? It is genetic, causes hypothyroid symptoms and thyroid blood test results can be normal.

    The treatment requires very high levels of T3. Let me know if you would like more information.

  • hi sandy, yes please I'd love more info. thanks for getting in touch

    x

  • thanks clutter, really useful link and very interesting did ussion

  • I ended speaking with one of the advisors via the lab and they confirmed that I do have the faulty gene.

  • Hi CharliesCat,

    You don't really expect a GP &/or endocrinologist to understand and correctly interpret your test results do you? :)

  • Ha ha, no, but one can live in hope!

  • Hi - if my result is Heterozygous variant genotype TA, what does that mean please and whats the implication in terms of T3 (am fighting for t3 at the moment). Thank you

  • Im just looking into this as I have had my genes tested. They are showing genotype CT for the DIO2 gene. Does this mean it isn't converting the T3 properly? I have only recently read about these findings and have never been ok on just T4. I am seeing an endocrinologist in a months time and I would like to add this type of evidence to my background.

    Does anyone know if CT does mean this?

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