celiac genetic testing

[Anonymous]

My daughter was recently tested for celiac and I remember a discussion on the forum about the various tests but I can’t find it. So they did some basic blood tests which I believe they kept calling HLA tests and they did genetic testing through a laboratory called Prometheus Therapeutics and Diagnostics in California (Does anyone know anything about this company i.e. reputation etc.) It identifies HLA DQ2/DQ8 haplotypes associated with celiac disease. Supposedly this is the best test??? My question is I thought an endoscopy was the best diagnosis? Also, if this is negative is this truly a negative at this age (I heard testing isn’t reliable until 3 years old). Thanks in advance for any information

[Anonymous]

Yes, from what I understand, the blood test isn’t a good test until much later when the baby no longer has the mother’s antibodies in him/her.

My dd had an endoscopy and biopsies were taken to determine if she had CD. It was negative.

[Anonymous]

promethius is probably one of the best labs for genetic testing for celiac disease. this is where our ped gi had ian’s blood sent. he is IgA deficient, so we could not tell if he had celiac with the regular testing. some docs still do not do the Ttg test, some do the older, less accurate tests. if your doc used promethius, he had the right testing done.

testing is not really accurate below 3 yrs., but it does not have anything to do with the mother’s antibodies. some children just do not start producing the antibodies at such a young age. i know that there are children that have been diagnosed really young—-i assume they must have had alot of damage already.

what was happening with your daughter that made the doc suspect it might be celiac?

a biopsy is supposed to be the gold standard for celiac diagnosis, but the small intestine is about 22 feet long and the scope can only get into about 6 feet of that—-plus, celiac damage can be patchy—so i am not sure why it is considered the gold standard.

tianna had an iffy biopsy, the doc was looking for celiac. kassie had a negative biopsy, but the doc was not looking for celiac. when all three girls had positive Ttg blood tests, he didn’t even bother to do a biopsy on molly.

tianna had rashes, kassie was nauseated, and molly had no obvious symptoms. molly’s blood test was higher than kassie’s, even though kassie seemed to be the one that was sick.

have you gotten the genetic testing results yet? if your daughter comes up with either DQ2 or DQ8, you will know that you need to continue to test her over the years. somewhere around 40% of the population has at least one of the celiac genes, but the gene must be activated in order for a person to have celiac disease.

ian does not have celiac at this time, but he does have the DQ2 gene, so he will be tested on a yearly basis, or sooner if he should develop symptoms.

kevieb2007-6-16 16:54:37

[Anonymous]

The mother’s antibodies is just how our Ped GI explained it to us. I did not do much researching on it bc the GI told us one day and we had the test the next day (but we were 4 hours from our home) and it was neg.

In Addy’s case, they took around 20 biopsies. He told us that he takes so many since it is usually very patchy in the intestine. So that way, the % to get a patch affected by CD is much higher (if you have the disease).

[Anonymous]

Tracy and Christine thank you for your replies.
The tests came back negative is what the doctor told us so I am assuming both of the DQ2 and DQ8 came back ok. I didn’t know for sure what celiac test they did until I received a letter in the mail yesterday from Prometheus (re: that insurance may not pay the $500 and that we will be responsible for the amount if insurance doesn’t pay).
The doctors ordered the celiac and also a cystic fibrosis sweat test for her because she is in the less than 3% for weight and height, wheat allergies run in my family and my husband and I are both of French Canadian descent(which according to the nutritionist it is very prevalent with French Canadians). Apparently the nutritionist we went to thought that her growth curve looked very much like that of many children with celiac. The CF test they admitted was a longshot and it came back negative.
I really wasn’t convinced that it was celiac disease but once they brought it up and their reasoning(plus big family history of colon cancer which I read can happen if diet is not followed) I started to get concerned which is why I am wondering if there is still a chance she could have it.
I truly believe Chloe’s weight is okay (until I see the GI and they make a big deal about it). I wasn’t 20 pounds until I was over 2 years old. I am under 5 feet and I come from a family with many short people. You could line up my mother and grandmother with me and we are all under 5 feet. And my husband has some short people in his family including a great aunt about 4 foot 6. Plus Chloe is breastfed and the WHO growth charts that I found on Kellymom show Chloe as doing fine AND staying on a curve. They didn’t want to hear about those curves. Needless to say my husband and I had words with them.
Fortunately at the follow up they laid off and I noticed they had the newer WHO charts that I had not given them and they had Chloe’s weights plotted on them and they specifically referred to them and stated that she was on the curve.(score a point for mommy!).
Sorry, I got off on a tangent but I am still pretty ticked about that visit. I can’t stand doctors that don’t know a lot about breastfeeding and aren’t open to hearing about it.
Thanks again for your replies.

chloe’s mom2007-6-16 19:27:4

[Anonymous]

just want to point out that a person may not be able to handle wheat and gluten and not have celiac. my son is MFPI and cant handle milk, soy, wheat/gluten. no testing for intolerances though. he is not a celiac.

[Anonymous]

Natalia,
That is a good point but I am thinking if their concern is because of her growth she was on their curve until 6 months and then dropped but she just started eating wheat products in the last month. She hasn’t shown any signs of intolerances. In fact, she has been doing so well except the weight( in their eyes )that we are in the process of weaning her off meds (hopefully, I didn’t just jinx us).

[Author]

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