Genetic Testing Results

[Bethe444]

I'm very confused here. In 2005 I had my gallbladder removed. About a year after the surgery I was still having stomach issues and had gliadin, Iga and Igg testing which came back positive. However my GI did a biopsy - which was negative. Now , 2009 my stomach issues are still there. I was orginally told IBS. Last month I insisted in more tests. My primary doc did more specific Iga, Igg -gliadin and blood counts. The gliadin, Iga and Igg where still high and an indicator for celiac. I also have high thyroid tests, positive for B12 deficiancy and anemia, all concluding to celiac. I have been (for the most part, since I'm new to this) gluten free for a few weeks now, and my stomach issues are much better. Now here is where I'm confused. The nurse called today and said that my genetic tests came back negative! I have heard that if this is the case than I do not have celiac. I just do not know what to think. I will be seeing my doctor on Thursday to go over the results.

Has anyone else had some similar results. I'm really stressed now. I've been reading every label in sight, watching every little thing I eat. I hope someone can help with an answer.

Thanks for listening.

[Gfresh404]

I'm very confused here. In 2005 I had my gallbladder removed. About a year after the surgery I was still having stomach issues and had gliadin, Iga and Igg testing which came back positive. However my GI did a biopsy - which was negative. Now , 2009 my stomach issues are still there. I was orginally told IBS. Last month I insisted in more tests. My primary doc did more specific Iga, Igg -gliadin and blood counts. The gliadin, Iga and Igg where still high and an indicator for celiac. I also have high thyroid tests, positive for B12 deficiancy and anemia, all concluding to celiac. I have been (for the most part, since I'm new to this) gluten free for a few weeks now, and my stomach issues are much better. Now here is where I'm confused. The nurse called today and said that my genetic tests came back negative! I have heard that if this is the case than I do not have celiac. I just do not know what to think. I will be seeing my doctor on Thursday to go over the results.

Has anyone else had some similar results. I'm really stressed now. I've been reading every label in sight, watching every little thing I eat. I hope someone can help with an answer.

Thanks for listening.

The test that holds the most validity is the one you do yourself. Many people on this forum have had negative blood tests and negative biopsies, but have still responded favorably to the gluten-free diet. Currently, this is known as Non-Celiac Gluten Sensitivity or NCGS. I myself would be considered a NCGS individual. Not only did I have negative blood work and negative biopsies, I also had negative genetic testing. So you are not alone. Apparently, a total of 9 genes have been related to celiac disease, but only 2 of them are recognized in this country.

Regardless of what any test says, if gluten bothers you, just stay away from it. And try not to stress, a lot of people are in the same boat as you.

[Mother of Jibril]

It's true that if you don't have DQ2 or DQ8 then your chances of having celiac disease are greatly reduced... but there's no way to be 100% sure. There are people on this board with DQ9, DQ7, etc... who have been officially diagnosed with celiac disease. Also, you could have problems with gluten that manifest in other ways. For example, the DQ1 subtypes (DQ5 and DQ6) are associated with migraines and neurological damage. There's still a lot of research that needs to be done.

Some labs only report the results of genetic testing as positive/negative for DQ2/DQ8. Other labs will give you more detailed information about which genes you have. It might be worth it to get a photocopy of your labs... it's your right as a patient. If the information you want is not there you might consider doing something like genetic testing through Enterolab.

[gfb1]

It's true that if you don't have DQ2 or DQ8 then your chances of having celiac disease are greatly reduced...

[snip]

to my knowledge, all published materials screen confirmed celiacs for the presence or absence of DQ2/DQ8 -- in which case, there are a large proportion of celiacs who have those markers (approx. 80

[HouseKat]

I'm very confused here. In 2005 I had my gallbladder removed. About a year after the surgery I was still having stomach issues and had gliadin, Iga and Igg testing which came back positive. However my GI did a biopsy - which was negative. Now , 2009 my stomach issues are still there. I was orginally told IBS. Last month I insisted in more tests. My primary doc did more specific Iga, Igg -gliadin and blood counts. The gliadin, Iga and Igg where still high and an indicator for celiac. I also have high thyroid tests, positive for B12 deficiancy and anemia, all concluding to celiac. I have been (for the most part, since I'm new to this) gluten free for a few weeks now, and my stomach issues are much better. Now here is where I'm confused. The nurse called today and said that my genetic tests came back negative! I have heard that if this is the case than I do not have celiac. I just do not know what to think. I will be seeing my doctor on Thursday to go over the results.

Has anyone else had some similar results. I'm really stressed now. I've been reading every label in sight, watching every little thing I eat. I hope someone can help with an answer.

Thanks for listening.

Bethe,

Ask for a copy of the test results, I'll bet that you do have a celiac gene, just not one of the two recognized in the U.S. I have one of those "unofficial" genes and neither of the "official" ones, so my doctor put in my records that I have "gluten-sensitivity" and must be on a gluten-free diet. I don't have the "gold standard" diagnosis, but I have something to back me up, when and if I need it.

Kate

[Mother of Jibril]

to my knowledge, all published materials screen confirmed celiacs for the presence or absence of DQ2/DQ8 -- in which case, there are a large proportion of celiacs who have those markers (approx. 80

[gfb1]

gfb1,

I know this is your drumbeat... but take a closer look at my post. Did I in ANY way suggest that GENES CAUSE CELIAC DISEASE??? No I did not. I have a PhD. I know the difference between causation and correlation. My goal was to answer Bethe444's question to the best of my ability... what was your goal?? IMO, if you want to discuss the deficiencies of genetic research on celiac disease you should start a new thread.

This is not the first time you've done this to me... please stop.

moj;

sorry; i did not mean to denigrate you or your education or opinion. i am overly sensitive to the overuse of HLA-typing for disease diagnosis (for reasons that have nothing to do with celiac or this list) and tend to be overly critical of language that suggests that there is a useful diagnosis that can be obtained from the information.

my wife tells me that i have a bad habit of going into lecture-mode when these things happen... i'll try to be more aware, and, hopefully, more helpful in the future.

[Mother of Jibril]

moj;

sorry; i did not mean to denigrate you or your education or opinion. i am overly sensitive to the overuse of HLA-typing for disease diagnosis (for reasons that have nothing to do with celiac or this list) and tend to be overly critical of language that suggests that there is a useful diagnosis that can be obtained from the information.

my wife tells me that i have a bad habit of going into lecture-mode when these things happen... i'll try to be more aware, and, hopefully, more helpful in the future.

Apology accepted

I have my own issues too... I'm very careful about what I post on this forum.