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Gene Test


lmg

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lmg Newbie

i had the gene test done a while ago in response to low iron and digestive issues.

my docter told me i was heterozygous.

my iron levels have recently dropped alot and i pulled out my old test results, and it looks like i have been tested for the haemochromatosis gene. and that i was heterozygous for C282Y?? after googleing this gene is seems definate to be a haemochromatosis gene and has nothing to do with celiac??

has my docter effed up, and ripped me off 70 bucks for the gene test?


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ravenwoodglass Mentor

I don't think your doctor ripped you off. There is a lot not yet understood about genetics and especially about celiac and the genes. One gene can be associated with more than one disorder also.

Also if you are anemic I think it is unlikely that you have Haemochromatosis as that causes an excess of iron not a deficit.

You may want to talk to your doctor again and see what he says about the findings. Perhaps that could clear up your questions.

Open Original Shared Link

"Haemochromatosis is a genetic condition which can cause the body to accumulate excess iron. Iron is vital to the efficient functioning of the body but excess iron can damage vital organs (eg the liver, the heart and kidneys)."

Open Original Shared Link

"What is iron overload disease?

Iron is an essential mineral for normal functioning of the body, but it can also be toxic in excessive quantities. Iron overload disease, or haemochromatosis, is a disorder in which the body is unable to regulate iron absorption, with the result that excess iron accumulates in the body."

Skylark Collaborator

As Raven says, he was not testing you for celiac. He was testing for hemochromatosis. There is no accurate celiac gene test. The proper diagnostic tests are tests for celiac antibodies in the blood and a biopsy.

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    • trents
      Yes, it does. And joint pain is another celiac symptom that is now well-recognized. 
    • ThomasA55
      Does my iron loss sound like celiac to you?
    • trents
      Being as how you are largely asymptomatic, I would certainly advise undertaking a gluten challenge in order to get formal testing for celiac disease. We have many forum participants who become violently ill when they undertake a gluten challenge and they therefore can't carry through with it. That doesn't seem to be the case with you. The reason I think it is important for you to get tested is that many or most people who don't have a formal diagnosis find it difficult to be consistent with the gluten-free diet. They find ways to rationalize that their symptoms are due to something other than celiac disease . . . especially when it becomes socially limiting.  The other factor here is by being inconsistent with the gluten free diet, assuming you do have celiac disease, you are likely causing slow, incremental damage to your gut, even though you are largely asymptomatic. It can take years for that damage to get to the point where it results in spinoff health problems. Concerning genetic testing, it can't be used for diagnosis, at least not definitively. Somewhere between 30 and 40% of the general population will have one or both of the two genes known to be associated with the development of active celiac disease. Yet, only about 1% of the general population will develop active celiac disease. But the genetic testing can be used as a rule out for celiac disease if you don't have either gene. But even so, that doesn't eliminate the possibility of having NCGS (Non Celiac Gluten Sensitivity).
    • ThomasA55
    • trents
      Welcome to the celiac.com community, @ThomasA55! Before I give my opinion on your question about whether or not you should undergo a gluten challenge, I would like to know how you react when you get a good dose of gluten? Are you largely asymptomatic or do you experience significant illness such as nausea and diarrhea? You mentioned intermittent joint pain before you began experimenting with a low gluten diet. Anything else?
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