Genetic Testing

[IrishHeart]

Nora, you may be right that they would pick up 7.5 as 2.5; I don't know enough to say for sure, but they specifically indicate that they were not testing for 2.2, and that all the "left-overs" were found to be 2.2. So again, this is exactly the result that previous studies would have us expect. This result should not be surprising or inflammatory, but it's presented in such a way as to come across like that.

Irish, I agree that they were not claiming to test more than 2.5 and 8, but they lead you to try to draw the conclusion that you just explicitly drew: that "Genetic testing is not a diagnostic tool IN and of itself, no. It's primary purpose USED TO BE to exclude diagnosis if the patient had symptoms suggestive of celiac."

Again, I have to say that genetic screening does seem to be very useful in excluding celiac disease. The study could certainly be used to say that screening limited to only DQ2.5 and DQ8 is not useful, but I don't think that anyone should be or are using such screening to begin with.

Actually, I think that genetic screening --as it stands NOW-is actually NOT very useful for excluding celiac disease--because they DO NOT recognize universally that other genes are at play.

The doctor says ..nope, no DQ2 or DQ8, you CANNOT POSSIBLY have celiac disease. This is absolutely false!!!!

Until the data proves/states that other genes are factors, the DQ2 and DQ8 genes are the only ones being used in positive testing results.

That leaves MANY celiacs undiagnosed--something that is already a major tragedy.

[JoshB]

Maybe I'm confused on something here. My doc didn't test my HLA-DQ type; I already knew it by other means, so I don't have a lot of personal experience. Everyone I've seen post on these forums, however, has posted tests that did resolve DQ types other than 2.5 and 8.

Is there some lab commonly in use which doesn't look further? That seems almost criminally negligent. My assumption is that if you get your "DQ" type tested, you'll end up with an accurate and specific result, not that they are simply saying "You have DQ2.5/DQ8" or "You don't have DQ2.5/DQ8".

[IrishHeart]

This is what I am trying to explain, hon.

I think most labs (I know Enterolab does anyway) interpret genetic results for CELIAC DISEASE as positive in the presence of HLA-DQ2 and DQ8...any other sub-type gets a "gluten sensitive" label...or is if it is 2,2 it is labeled as "rare" for celiac. (I must be "special" then.. )

Yet, many of us with DIAGNOSED celiac have genetic test results OTHER THAN DQ2 and DQ8...see what I am trying to say??

This is why lab test results can only be as valuable as the INTERPRETATION of them. If the "powers that be" say only 2 and 8 are the celiac genes, then people go un-DXed because that's what the conventional medical thinking goes by....got it?

Maybe this will help:

https://www.celiac.com/articles/21628/1/Celiac-Disease-Genetics/Page1.html

[JoshB]

Maybe this will help:

https://www.celiac.com/articles/21628/1/Celiac-Disease-Genetics/Page1.html

If that info is up to date, then the testing companies providing those incomplete results are just plain evil. Like, should be restricted from offering that test and ought to be the target of a class-action evil.

[IrishHeart]

If that info is up to date, then the testing companies providing those incomplete results are just plain evil. Like, should be restricted from offering that test and ought to be the target of a class-action evil.

oh, they do tell you what the genetic markers are--not just DQ2 and DQ8!

But their hands are tied! They can only provide CELIAC DISEASE test result interpretation based on what is the CURRENT accepted medical knowledge of the "celiac genes" --which are the DQ2 and DQ8. Until that changes, and more genes are proven/accepted to be indicators of celiac, that's all they can do.

They are not at fault.

If you pay for a test that detects the "celiac genes" ---i.e. DQ2 and DQ8---and you have ones other than those, then it is implied that you do not have celiac.

That's the problem!!!