DI02 Gene test results: Has anybody paid for the... - Thyroid UK

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DI02 Gene test results

CharliesCat profile image
12 Replies

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!

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CharliesCat
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12 Replies
jimh111 profile image
jimh111

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.

CharliesCat profile image
CharliesCat in reply tojimh111

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!

janetEB77 profile image
janetEB77

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

.

lidoplace profile image
lidoplace

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

Jacs profile image
Jacs

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

Clutter profile image
Clutter in reply toJacs

Jacs, These links discuss deiodinases.

deiodinase.org/2015/01/17/n...

ncbi.nlm.nih.gov/pubmed/191...

nahypothyroidism.org/deiodi...

Jacs profile image
Jacs

thanks clutter, really useful link and very interesting did ussion

CharliesCat profile image
CharliesCat

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

CharliesCat profile image
CharliesCat

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

Danifox6 profile image
Danifox6

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

Numberone1 profile image
Numberone1

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?

Jacs profile image
Jacs

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

x

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