Genetic Testing

[StephanieL]

Hello! This is my first post and I have a question. My 3 year old son recently had a + TTG test result. We went to the gastro and she wants to biopsy. I am not sure I want to do that.

I am thinking of calling the gastro and insisting on the genetic test before I will even consider the biopsy. I have been told that IF the genetic test is - that there is no way my son can have celiac disease. Is this true?

He has major allergies already and this is just so hard to decide. I know I could do just go gluten-free but I am not. So hard to decide!

Thanks so much!

[nasalady]

I am thinking of calling the gastro and insisting on the genetic test before I will even consider the biopsy. I have been told that IF the genetic test is - that there is no way my son can have celiac disease. Is this true?

Well, no, this is not true. Although it is rare, there are actually people here on this board who have tested negative for the two "accepted" celiac genetic markers, HLA DQ2 and HLA DQ8, and yet they have celiac disease. My granddaughter Carly has biopsy-proven celiac disease but does not have either of those markers.

IMHO, if your son has tested positive for the antibodies, you have your answer. False positives are very unusual, whereas false negatives are fairly common. The gastro is insisting on the biopsy because it's the so-called "gold standard" for diagnosis, but false negatives are also relatively frequent with biopsies, because they only biopsy a few small areas and, unless they get lucky, it's easy to miss damaged villi if the damage is patchy.

Carly was biopsied twice, once at age two (negative), once at age three (positive). She is now gluten free and growing like a weed.

Whatever you decide about the biopsy, once he is done with testing it sounds as though your son needs to be gluten free. Here's a great link that gets you started right:

Open Original Shared Link

Good luck! Please keep us posted!

JoAnn

[jennifert]

Hi- I had never heard of the Genetic testing before this site. I may ask my dr as well. I had a positive Anti gliadin test several years ago (about 4 or 5) and have had negative biopsies 4 different times- 1 each year because I also have chrons- diagnosed by biopsy. . . Doctor recently wanted me to go gluten free because I have nearly every symptom of celiac and it has now been 14 weeks Gluten free and I don't feel much difference. My thought is that if I was really celiac all of those biopsies would have caught it at least once...But maybe i will ask for the genetic testing...does it matter if you have been gluten free when you do the testing...I know biopsies will come out negative and some of the other bloodtests if you have been off gluten, but I wasn't sure about the genetic testing...

[tarnalberry]

Personally, I don't find genetic testing very useful.

It can't actually rule out celiac disease - not all genes that contribute to celiac are tested for.

It can't actually rule it in - 30% of the population has at least one of the two most common celiac genes, but only 1% develop celiac disease.

I could see using it as a screening, but you already have more detailed tests.

If you want more tests, check to find out if they did a full celiac panel. If they did, and the only one that was positive was the tTg, then do the additional test of the diet. The gluten free diet, particularly if challenged with gluten after a few months (I wouldn't say this is mandatory, but it's a useful data point) is a completely valid test. Harder to do, and takes longer, but really, IMHO, the most important one.

[jennifert]

Thanks..I just read that same number/stat on the genetic testing as well...think it would make me more confused to do it actaully the more I read. Thanks for the input! I would think after 14 weeks fo this that more change would be happening...so I may reintroduce gluten and see what happens.

thanks,

Jennifer