Get email alerts Get Celiac.com E-mail Alerts  




Celiac.com Sponsor:
Celiac.com Sponsor:




Ads by Google:






   Get email alerts  Subscribe to FREE Celiac.com email alerts

Celiac Genetic Testing?
0

6 posts in this topic

My doctor is sending me to get blood work done. He doesn't want me to start eating gluten in order to see if I have celiac disease, so he's just sending me out to get the celiac genetic test. He didn't really explain it well though... What exactly does this exam do? What is it testing for? It won't tell me if I have celiac or not, right? Just if I'm genetically predisposed?

0

Share this post


Link to post
Share on other sites


Ads by Google:

Hi Cdaviles, Why are you gluten free in the first place? The genetic testing is useful to possibly rule out celiac (though some have celiac with atypical genes, it is very rare). But I think 1/3 of all people, with celiac or not, have those genes. Unfortunately the genetic testing can be misused. For example, my son's pediatric GI was very anti-celiac for some reason and even after I was confirmed celiac she felt my son's DQ2 subtype made it virtually impossible for him to be celiac because the prometheus report put his odds at less than one times higher than the general population. I also have that "unlikely" single gene.

I've learned in my short experience with this disease that many doctors focus very intently on ruling out celiac. A patient can stand in front of them looking like a textbook celiac sufferer and they find some reason not to want to dx.

0

Share this post


Link to post
Share on other sites

I've learned in my short experience with this disease that many doctors focus very intently on ruling out celiac. A patient can stand in front of them looking like a textbook celiac sufferer and they find some reason not to want to dx.

Isn't that the truth??!!!! You would think they were getting a kickback from Big Pharma for every time they failed to diagnose celiac. I know, it doesn't make sense; maybe just the realization of the patronage they are losing by your not needing to come back to have scrips refilled, not to mention the potential development of other auto-immune diseases (you can hear them licking their chops, here, at the potential involved in some of these diseases :lol: )

No, sorry to the OP :( , I am being much too cynical here on a very real problem. The genetic testing is not really going to provide you with much useful information, but it could say to the doctor (who undoubtedly does not believe in any celiac genes other than DQ2 and DQ8), aha, you cannot have celiac disease. Therefore, I am going to prescribe x and y and z for your IBS or whatever he decides you might have, and you will need to come back and see me in a month for follow-up, at which point I might test you some more for something else.....

You see, there are two major genes recognized as predisposing to celiac disease, and if you don't have either one, well then you can't have it, can you??? is the way the thinking goes. Just today on the forum, Ravenwoodglass posted that she found an old copy of a celiac blood test which shows she tested positive for AGA IgA (although her doctor told her it was negative). She had the celiac genetic test and didn't have either DQ2 or DQ8, and went undiagnosed for a further ten years of suffering and was seriously impaired and to this day, to a great degree, remains so. Hers was a classic case of the genetics being used against her.

You must decide for yourself what you hope to learn from this test. Unless your parents, other siblings, your offspring are also going to be tested for the genes, no pattern will emerge on genetic inheritance. So perhaps you need to ask him the purpose of the test. :)

0

Share this post


Link to post
Share on other sites

Mushroom, my son's GI, just two days ago, tried to put him on zantac! And then she said, "Well the only problem is that it might cause a little diarrhea.". He's underweight, he's four, he still wears some clothes that are sized 18 MONTHS, he's had diarrhea since August. He doesn't have any acid reflux signs but he does have a mother with celiac and a strong positive DGP IGA. And no, I'm not going to give him something that causes diarrhea for a problem he doesn't have!

0

Share this post


Link to post
Share on other sites

Mushroom, my son's GI, just two days ago, tried to put him on zantac! And then she said, "Well the only problem is that it might cause a little diarrhea.". He's underweight, he's four, he still wears some clothes that are sized 18 MONTHS, he's had diarrhea since August. He doesn't have any acid reflux signs but he does have a mother with celiac and a strong positive DGP IGA. And no, I'm not going to give him something that causes diarrhea for a problem he doesn't have!

Did she specify what the zantac was supposed to do for him?? :unsure: (rather than TO him).

0

Share this post


Link to post
Share on other sites




Mushroom, my son's GI, just two days ago, tried to put him on zantac! And then she said, "Well the only problem is that it might cause a little diarrhea.". He's underweight, he's four, he still wears some clothes that are sized 18 MONTHS, he's had diarrhea since August. He doesn't have any acid reflux signs but he does have a mother with celiac and a strong positive DGP IGA. And no, I'm not going to give him something that causes diarrhea for a problem he doesn't have!

I wore toddler clothes until i was in first or second grade (so 6 or 7 years old).

I agree don't give him the zantac. That stuff is nasty to deal with.

zantac generally reduces the amount of acid in the stomach and helps with GERD issues. If he has tummy troubles outside of the "D" then that might have been why the GI wanted to perscribe it. Before i got sick i was told to take it every evening to be able to eat in the morning (would wake up with terrible upset stomach, didn't help though).

Genetic tests are useful. I have both genes DQ2 and DQ8 along with a positive IGA TTG (other issues that were related to this were ruled out i believe), negative biopsy (4 weeks gluten free before though) and the rest of the blood panel was negative. ALl my other issues cleared up on the diet.

In this case (and i've had a doctor tell me yes while my GI says intolerence) i believe i do have it (or at least caught it before it could do major damage?).

0

Share this post


Link to post
Share on other sites

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!


Register a new account

Sign in

Already have an account? Sign in here.


Sign In Now
0

  • Forum Statistics

    • Total Topics
      104,132
    • Total Posts
      919,524
  • Topics

  • Posts

    • Now that my initial rage has calmed a tad.... your daughter has to fulfill 4 out of 5 of the diagnostic criteria. Second opinion can do a gene test. If positive, then she will have4 out of 5 of the dx criteria to dx without a positive biopsy. See: http://www.gastro.org/news_items/a-biopsy-should-not-be-required-to-make-the-diagnosis which says in part: The presence of signs and symptoms compatible with celiac disease. Positive serology screening (high serum levels of anti-TTG and/or EMA). Presence of the predisposing genes HLA-DQ2 and/or –DQ8. Histological evidence of auto-insult of jejunal mucosa typical of celiac disease. Resolution of the symptoms and normalization of serology test following the implementation of a gluten-free diet.   Also see: http://www.tenderfoodie.com/blog/2014/5/1/dr-fasano-on-new-gut-autoimmune-research-autism-clearing-up.html She can get a dx after her symptoms resolve on a gluten-free diet!
    • OMG!!!! The doc wants her to get sicker & sicker & do further damage so he can diagnose her? Don't do me any favors doc!!! I'm so spitting med right now I can't even speak! Find a new doc, take the records & get a second opinion. Maybe the next doc will have a freaking brain & dx your daughter. She should be dx'd! This is absurd in the extreme. The very least that should happen is the doc give her a dx now & then in a year or 2 have her do a gluten challenge & do a biopsy all over again but seriously, that would be just as cruel as what he's doing now. He's an ASS!
    • Celiac disease may lead to a host of other inflammatory, gluten-related ... Fortunately, Diet Doc offers gluten-free diet plans which are customized to ... View the full article
    • Cyclinglady is absolutely correct, after hours of internet research the only gluten-free food available at JNB is a fast food chain called 'Nandos'. I was hoping for a bit more variety, but I'll take what I get.   
    • I'm so confused about my daughter's diagnosis.  I hope somebody can help.   My 4 year old daughter has a swollen belly, stomachaches, and lots of gas.  She does not have diarrhea or delayed growth.  Because of her symptoms and because it runs in the family (2nd degree relatives) I had her tested for celiac.   She was weak positive for TTG (IGA)  and strong positive for DGP (IGG)   TTG (IGA)  8   (0-3 neg, 4-10 weak positive, greater than 10 positive) TTG (IGG)  2   EMA: Negative DGP (IGG)  47  (0-19 negative, 20-30 weak positive, greater than 30 positive) Last week, she had her endoscopy.  The doctor found inflammation and little holes or bumps on her duodenum.  He started her on prevacid and said based on his observations, he was suspicious of celiac, but he would not be able to confirm until the biopsy came back. The biopsy showed no signs of celiac disease.  He said that he could not diagnose her with celiac without the biopsy report saying there was celiac damage.  He said he would categorize her as a potential celiac, keep her on a gluten diet and redo the endoscopy in a year or two to check for damage again.  My questions are: 1.)  If it is not celiac, something is causing her duodenum to be inflamed and have little holes or bumps on it, right?  Could it be a wheat allergy or gluten sensitivity?  What else could it be and how do they test for it?  Given her elevated celiac antibodies, how likely is it to be anything besides celiac causing the damage?  2.)  How likely are false positives for TTG and DGP?  I've heard they are pretty sensitive and specific.  Does getting two positives make false positives less likely? 3.) What have you done in this situation?  I want her to have an official diagnosis to make things easier at school and to feel confident that we are eliminating gluten permanently for a worthy reason, etc.  But, I'm having a hard time imagining keeping her on gluten and waiting for her to get more sick and have more intestinal damage just for a diagnosis.     Thanks in advance for your help.  I'm so overwhelmed and confused.  I hope someone has some insight and experience that will help clear things up for me.            
  • Upcoming Events

  • Blog Entries

  • Recent Status Updates

  • Who's Online (See full list)

  • Member Statistics

    • Total Members
      61,167
    • Most Online
      1,763

    Newest Member
    georgemathews
    Joined