Ten Facts About Celiac Disease Genetic Testing

I just ordered the tests from Kimball (after seeing the special they're offering right now through this website) and am eagerly looking forward to getting the test and hearing the results. My 2 sisters and I all are showing signs of gluten sensitivity, but none of us has been officially diagnosed yet.

Very informative, as a scientist and a celiac I am amazed how complex the genetic marking of celiac disease is. I would even dare to say that it would be easier to look for a gluten-tolerant marker and use the non-presence of this marker as an indicator of gluten related conditions! However, I am even more amazed at the very un-scientific diagnosis process that many 'doctors' follow. Too many people are reporting multiple misdiagnoses and inaccurate testing regimes. As a researcher (astrochemist) I would not trust these 'doctors' in my lab!

I'm Celiac (finally correctly diagnosed in 2001) and have a son (he's 15) that has tested positive for Celiac on one of the blood test. He's had 2 blood tests. The doctor didn't want to do a biopsy so I opted to do genetic testing. I chose Prometheus to do it. It cost $509 and the test came back 'inconclusive' for Celiac. Does anyone know what that means? My doctor said that means that my son may get Celiac and he may not. I'm not thrilled that I spent $509 to find that out. I already knew that!

Thank you for this article. I was recently diagnosed with celiac and could not figure out how I was going to get my kids tested (11 & 8 years) without a biopsy, especially as neither of them seem to have any real problems. This is a much better way of checking. My doctor uses Quest so will have to discuss either using one of the others or doing it myself. Thanks again!

Thank you for this very informative article.

I am a self diagnosed Coeliac…

I had all the “classic†symptoms but was misdiagnosed by all the doctors that I've seen over a 13 year period!

I have a sister that was properly diagnosed as Coeliac at 9 months old. At 15 years old, I had severe Anemia that didn't respond to any treatment, Fatigue, Nausea, terrible abdominal pains, weight gain etc but the doctors convinced me (and not my mum…) that I didn't have Coeliac based on a negative blood test and endoscopy.

Finally, at 28, when the stomach pain attacks grew too close together I insisted on another blood test- which came out positive

On the advice of my GP, I skipped the biopsy and started a gluten-free diet straight away. I had immediate positive affect on my overall health

Since then, my 2 kids have been genetically tested. As they carry 1 gene only, the official result was “Coeliac disease cannot be ruled outâ€

I chose to put them on a strict gluten-free diet, based on my experience. I just had a 3rd child and not even going to bother testing this time….

My concern is regarding the effect of the 13 year long exposure to Gluten on the risk of bowl cancer

If anyone could point me to some information regarding that I would appreciate it

I'm so glad I read this article before choosing a lab. Turns out I have an alpha sub-unit that would not have been detected by labs only checking for the beta sub-unit.

Very interesting. I had a blood test yesterday and will wait for results

What I STRENUOUSLY object to in this article is the usage of the term "True Celiac Sprue." This is scientifically and practically a TOTAL MISNOMER. It persists in medicine because medical doctors have ZERO to fifteen minutes of training in Celiac Disease, and the so-called intellects in the field make this extremely artificial, unnnecessary, and wholly disparaging(to add to the already extant built-in disparagement in Celiac inherently)distinction in language that bears ZERO relation to REALITY. They do so in the name of science but cannot in fact justify their actions with sound comprehensive science, just as Lewey accurately acknowledges it is not possible to exclude a possible diagnosis of Celiac on the basis of negative genetic or blood antibody tests(or even BOTH those situations).

On the positive side I do feel the article makes an important contribution to the gender designation generally supportive of the understanding that men have a harder time obtaining an affirmative diagnosis and some of the reasons for that--although one of the main reasons has nothing to do with medicine and everything to do with Sociollogic and even Socioeconomic factors in that society generally does not easily accept the notion that men should be designated easily as disabled or of a similarly suggestive adjective with regard to health issues, lest the very traditional basis of our society thus be undermined in its basic underpinnings---and this bias is clearly reflected in clinical medicine with relation to Celiac disease. The preference is always, in "acknowledging anything"--to rather conclude some kind of mental health problem, which serves numerous purposes, not the least of which is to minimize the medical aspects lest medical doctors have to accept as much responsibility for caring for such patients as Dr. Lewey has graciously dared to do in his professional life here. The doctors I saw with my disease were in Northern Colorado and over a span of four years' time during the middle 1980's--I did not get done to "The Springs" until I went there to see a woman Naturopath named Shields, who while evidently quite learned generally, also held out zero practical help with my experience of severe Celiac Sprue that took me down to a weight of 119 pounds at age 30 standing six feet two inches in height.

So I feel I have reason to remain upset over the ignorance of the past, and indeed, while ignorance is not confined to relatively rural areas of the country like Colorado, I certainly encountered a whole bunch in that state vis-a-vis this Celiac thing. And so I commend Dr. Lewey for his "new breed" attitude, a refreshing and necessary element in improving the quality of care of that percentage of us in society he may in fact encounter in his practice.

I actually just got my testing done, and they tested for and provide results for the beta and alpha subunits.Thank you for all of the information though, it was great.

On the verge of desperation, after a lifetime of misery (I am 52) and a feces sample on helicobacter pylori which tested negative. I have a very pronounced suspicion for celiac disease. This even before I have discussed this with my physician, which I certainly shall. Thanks, Adi and Sharon Mackey, your contributions are valuable for me.

Thank you for this article. It confirms suspicions that I had about family members in my family who probably have the disease and refuse to consider it. All members that I'm referring to have diabetes.

I believe that my mother, who died of diabetes, probably had celiac disease. No one that I know of in my family had it, but then, where did I get it?? My daughter tested negative but we know she has it. She is OK as long as she avoids gluten.

My 3 yr old just had the genetic tests done - and those results, according to the doctor, not only diagnosed my son but helped treat my daughter (7 yrs old)

My daughter (7) was finally diagnosed with Celiac earlier this spring, after years of tummy issues dating back before she could walk. Her case is so severe, that 10 months on the strict diet haven't cleared up her diarrhea or tummy cramps.

My son (3) has been "failure to thrive" since before he could walk, but tested negative against Celiac this spring.

He finally started gaining weight when we began our gluten-free quest for my daughter. After 10 months of the gluten-free diet for him, he's finally at the 50% for his age/weight/stature.... I didn't think I'd ever see that number again.

Our doctor ran the genetic test on my son & his results were the double DQ2 - the highest risk factor for Celiac, associated with the most severe symptoms.

He firmly declared my son officially "Celaic" based on history of failure to thrive & then growing exponentially on the diet, paired with his genetic results.

He also said this genetic pairing of double DQ2 is dominant, and is certain my daughter is the same way. We are bypassing several passive tests on her, and going straight for immunosuppressive therapy. We finally have a confident doctor, and finally have answers.