Ten Facts About Celiac Disease Genetic Testing

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

Hi, celiac myself and wanting to make a difference in the world by helping others. I would like to know if you are interested in sharing your story. You say touch the life of another going threw the same thing. I am writing a book of people wrongly diagnosed. Could you help me please. I would love to share your story.

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.

Paula, wow, glad to her you have found a great doctor and answers you need!!! my daughter started vomiting and diarrhea Dec 12 2010.. there was no obvious reason as to why.. at first we thought she ate too much cotton candy. after it was all out of her system, she seemed to do a little better... then a week later vomiting again! no apparent reason. Dr said it was some sort of tummy virus and it could take up to a month to clear. Funny part was no one else in the house "caught" this virus. Another ok week passed and boom vomit again..poor baby seemed to have tummy aches prior to getting sick (cramping, chills, crying, and saying ouch)..

again another week went buy. the only pattern was she would get sick once a week like clock work (no matter how normal she was feeling earlier). finally took her in to be seem yet again and the Dr mentioned celiac disase as a long shot (but still mentioned it) i have since noticed how certain foods trigger a tummy ache and even gas.... her stools were normal for a full week (finally) but threw up after crying a lot. Not sure if the vomiting was caused by crying or something more ... another "normal" week went by and just this Friday 1/14 2011 she vomited a ton..... she was in the middle of crying, she gagged and then a few moments later it all just came out! again not 100% sure what was the exact cause... i am super bummed about this. poor kid has been having issues for a few months now and I don't want to continue to give her things that will keep her sick. Her pediatrician has asked me to log all the foods I give her...Ii am just considering asking for her to be tested and stop with the guessing game. I'm over her feeling bad and having what seems to be tummy aches. I am scared of getting negative results but my daughter actually having celiac. I need to make sure i test correctly. Paula, i am wondering what city you live in and the Dr you see for your children? i live in FL and i just wanna go straight into trusted Dr.'s

I am pondering whether or not to get all the testing. I went gluten free for 2 months and my symptoms were gone, went back on gluten to get tested and the symptoms were worse than before. So I cancelled my endoscopy because I knew I would need to be gluten free regardless of if it is celiac. So my question is, how important is it to be tested? Is it a matter of knowing how strictly gluten free I need to be i.e. cross contamination issues? My daughter has been diagnosed with gastroparesis but got a neg biopsy for gluten but I think it was a false neg. She always had gastro issues especially with whole grains.

I am pondering whether or not to get all the testing. I went gluten free for 2 months and my symptoms were gone, went back on gluten to get tested and the symptoms were worse than before. So I cancelled my endoscopy because I knew I would need to be gluten free regardless of if it is celiac. So my question is, how important is it to be tested? Is it a matter of knowing how strictly gluten free I need to be i.e. cross contamination issues? My daughter has been diagnosed with gastroparesis but got a neg biopsy for gluten but I think it was a false neg. She always had gastro issues especially with whole grains.

Not sure where you live, however if you are Canadian and are diagnosed with celiac disease as a result of a biopsy then you can use your food receipts for gluten free products against your income taxes. You must have the biopsy to do this though!

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.

Thanks for sharing this...my blood test came negative so I want to get tested with gene testing. Can you tell where did you get tested and how much it cost. And if you want to tell me what was your result. Please reply because I'm suffering with this problem.

When Prometheus does the testing, and reports "HLA-DQ2 and other low-risk allele" does anyone know what they usually find as the other low-risk gene unit? I know I have HLA DQ2.2, but would like to find out the part they did not tell.

I wish I had seen this article previously. Last summer I paid Enterolab for genetic testing and received what I consider to be an ambiguous reply where I was identified as having 2 gluten intolerant beta genes HLA-DQB1 0202 and 0301, my Iga was elevated and I had an autoimmune reaction. Since I was told I did not have the main celiac genes I assumed I was in the clear not knowing that there was still a risk. I thought either you had it or you didn't. When I later inquired about the results after noticing the word "main" I was told that an individual with the two beta genes I carry has less than a 1% chance of developing Celiac. They never offered any info about alpha testing or genes. Several months later I found out about the alpha gene component and now have to pay a different lab to gain the rest of the picture since I am still not feeling well and have a whole host of symptoms. I did try to write to Enterolab again for answers, but this time they did not respond at all. Still waiting for the results from the second lab, however, I finally feel like I might have some closure. It's been a bit of a roller coaster. Initially, after months of feeling poorly I saw a homeopath, who told me I had a wheat intolerance, among others, and to try a gluten free diet. I had never heard of celiac and she never told me of the concern. I have been gluten free for 2 years. But haven't been completely strict with it thinking it was only a sensitivity. So, a secondary problem are professionals advising to go on a gluten free diet without also educating about celiac first.

Hi, celiac myself and wanting to make a difference in the world by helping others. I would like to know if you are interested in sharing your story. You say touch the life of another going threw the same thing. I am writing a book of people wrongly diagnosed. Could you help me please. I would love to share your story.

Celiac is still under the radar no matter how much we hear about it. The Gluten Free Diet and these diets are no better than the SAD in full bloom. Allopathic doctors are true dinosaurs in this field and I do not think the brainwashing they received in med school and paid for, will be easily undone. Many people by choice do not eat grains, even without celiac and I think that is a good idea. When a "gluten free" recipe by a celebrity celiac sufferer begins with rice flour, sorghum flour, white sugar, margarine and canned icing, run like hell!

I wish I had seen this article previously. Last summer I paid Enterolab for genetic testing and received what I consider to be an ambiguous reply where I was identified as having 2 gluten intolerant beta genes HLA-DQB1 0202 and 0301, my Iga was elevated and I had an autoimmune reaction. Since I was told I did not have the main celiac genes I assumed I was in the clear not knowing that there was still a risk. I thought either you had it or you didn't. When I later inquired about the results after noticing the word "main" I was told that an individual with the two beta genes I carry has less than a 1% chance of developing Celiac. They never offered any info about alpha testing or genes. Several months later I found out about the alpha gene component and now have to pay a different lab to gain the rest of the picture since I am still not feeling well and have a whole host of symptoms. I did try to write to Enterolab again for answers, but this time they did not respond at all. Still waiting for the results from the second lab, however, I finally feel like I might have some closure. It's been a bit of a roller coaster. Initially, after months of feeling poorly I saw a homeopath, who told me I had a wheat intolerance, among others, and to try a gluten free diet. I had never heard of celiac and she never told me of the concern. I have been gluten free for 2 years. But haven't been completely strict with it thinking it was only a sensitivity. So, a secondary problem are professionals advising to go on a gluten free diet without also educating about celiac first.

Whether you have celiac disease or just gluten sensitivity, it is my understanding that ingesting gluten causes intestinal damage. If you have a negative reaction to eating gluten, why bother getting tested? Especially since you can be gluten sensitive without testing positive on any test. I don't believe that there's a cure for celiac disease or gluten sensitivity, just a treatment; avoid ingesting gluten and your problem is solved!

While it's helpful to know the diagnostic (ICD-9) codes that will cover the genetic testing with your insurance, your doctor may only use those codes if you either already have the disease, or a family member has the disease, or if you are "predisposed" to the disease. You cannot say that you have the disease in order to test for the disease. That would be fraudulent, and now your insurance company thinks you have the disease. This goes into your medical record, and the next time you want to apply for life insurance, you will likely be turned down. So, consider that before you allow your doctor to use celiac disease as your diagnosis code. I'm certain Dr. Lewey would agree with that.

Genes don't mean you HAVE anything, only that you could, if the environment is right, develop whatever it is. Also, you don't need a biopsy for celiac disease if you have positive blood tests. It has been shown fairly accurately that the blood tests reflect the biopsy findings. The only people who need biopsy are those with 'possible' positive blood tests. Never the negative, nor the strongly positive. This is recent studies looking at patients who have had biopsies. You just need the right blood tests.

Genes don't mean you HAVE anything, only that you could, if the environment is right, develop whatever it is. Also, you don't need a biopsy for celiac disease if you have positive blood tests. It has been shown fairly accurately that the blood tests reflect the biopsy findings. The only people who need biopsy are those with 'possible' positive blood tests. Never the negative, nor the strongly positive. This is recent studies looking at patients who have had biopsies. You just need the right blood tests.

None of this happens to be correct, Beatrice. Sorry to burst your bubble but number one, most are not sent for intestinal biopsy due to under-suspicion as a general rule among physicians for celiac. Intestinal biopsy does, by and large, detect most celiac disease when performed. The blood tests are rife with problems of false negatives and therefore despite pronouncements by well-meaning yet totally uninformed physicians, reliance upon these is not justified. Genetic tests can show the proclivity and likelihood of celiac and thus, a positive gene test for either DQ2 or DQ8 is most certainly more helpful and also less invasive than any other single form of testing. Many of us prefer to feel that what we do, ie, lifestyle and environment and such is more important than our genes and yet, science is telling a totally different story with respect to celiac sprue.