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Would You Pay For Genetic Testing At This Point?
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Diagnosed NCGS. Had full celiac panel done 11mo ago and all was negative. Had positive response to gluten-free diet. Been gluten-free ever since. I have 2 daughters. Both are tiny (as am I), one has constipation issues for sure. My dad was tested for celiac back in the late 80s or early 90s. Result was negative. My mom is pursuing testing because she had a rock bottom B12 and D levels last month and suffers from depression, fatigue, leg aches, etc. I had a follow appt with my doctor today and requested genetic testing. She wouldn't do it. Said it's useless info and that I'm best to do an elimination diet with my kids if I'm concerned (their pediatrician is aware of my diagnosis but hasn't tested girls because they are so young..5 and 2yo).

I'm located in NY. I know I could pay for genetic testing via enterolab and perhaps others. If you were me would you bother? I inquired because I think it would be a helpful piece of the puzzle. If I have genes then a)perhaps I'm a seronegative celiac instead of NCGS and b)if I have genes then I'm more likely to closely monitor and test my daughters. Is that faulty thinking on my part??

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Mine was ordered by my GI doc and my insurance covered it.

I think it would be a good idea, considering your family.

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Do keep in mind that usually doctors only check for the two most common celiac associated genes. Just because you might not have those genes doesn't mean you might not be celiac. Also Enterolab testing, last I read, is not available to people living in NY. I was lucky and got my gene testing done through them before NY outlawed it.

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Do keep in mind that usually doctors only check for the two most common celiac associated genes. Just because you might not have those genes doesn't mean you might not be celiac. Also Enterolab testing, last I read, is not available to people living in NY. I was lucky and got my gene testing done through them before NY outlawed it.

Yes, I had the genetic testing and it was negative and I'd tested negative twice to the celiac panel so that was the end of the road formal diagnosis wise for me. Doesn't change the fast that I am extremely intolerant to gluten and I can see that so are other family members. It would've been nice to have those genes so I could get them to go gluten free.

If you can comfortably afford it and are curious then go for it but for me it was really frustrating to have yet another definitive 'no you don't have celiac' strike when I know that I can't touch the stuff. I would've been annoyed if i'd paid for it.

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Thanks for letting me know about the issue of being in NY. Looks like a doc needs to order it in my lovely state. So, I guess it doesn't matter unless I want to shop around for a new doc and find one willing to order it. Bummer.

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Some NY docs will do a stool test via Prometheus for gene testing and it is covered by insurance.

Maybe your doc will do it?

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Some NY docs will do a stool test via Prometheus for gene testing and it is covered by insurance.

Maybe your doc will do it?

I don't think so. She doesn't see the value. It appears that Kimball would do it but would send the results to my doc and I'd need to request a copy from the doc. Pretty sure that's the fastest way to piss off the doc LOL. My mom has a follow up with the doc (we have the same primary care doc) in November to follow up on her bottomed out B12 and I'm pretty sure I have mom convinced to demand celiac testing. Maybe I'll wait to see how that goes before deciding to shop around for another doc.

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Perhaps your Mother's doctor will include genetic testing in her tests. Should hers be positive you would then have reason to ask your doctor again OR if hers are positive it may be enough information for your kids to be genetically tested by their pediatrician.

I was fortunate - when my kids tested negative with symptoms my celiac doc recommended that I have the genetic test. We were all grateful to know that all of my children had at least one celiac gene as it was one less "unknown" in our medical history. My children were teens/young adult when I was diagnosed so the genetic link was important in each of their decisions to pursue more testing &/or go complete a gluten-free trial.

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Do keep in mind that usually doctors only check for the two most common celiac associated genes. Just because you might not have those genes doesn't mean you might not be celiac. Also Enterolab testing, last I read, is not available to people living in NY. I was lucky and got my gene testing done through them before NY outlawed it.

An unnameable company that I tested with, tests for 4 gene alleles. If I have it straight, two of these are celiac and two are gluten intolerance. They also sent explanations that I could understand.

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I don't think so. She doesn't see the value.

I do not see why she even cares one way or the other. You are paying the co-pay for the lab work and all she has to is sign the darn sheet. Geesh. It could be of value to your family.

My doc included it in the first lab work he ran on me. I did not ask for it, he just did it.

"Celiac disease (celiac disease) is a complex genetic disorder with multiple contributing genes. Linkage studies have identified several genomic regions that probably contain celiac disease susceptibility genes. The most important genetic factors identified are HLA-DQ2 and HLA-DQ8, which are necessary but not sufficient to predispose to celiac disease. The associations found in non-HLA genomewide linkage and association studies are much weaker. This might be because a large number of non-HLA genes contributes to the pathogenesis of celiac disease. Hence, the contribution of a single predisposing non-HLA gene might be quite modest. Practically all celiac disease patients carry HLA-DQ2 or HLA-DQ8, while the absence of these molecules has a negative predictive value for celiac disease close to 100%. Genetic risk profiles for celiac disease would be helpful in clinical practice for predicting disease susceptibility and progression."

found here:

http://www.ncbi.nlm.nih.gov/pubmed/18184122

there are others just like this one and I wonder is she would appreciate a few Pub med articles?

:)

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    • To answer some of your questions.... Non celiac gluten sensitivity does not cause any damage to the small intestine so that is not the source of the "little holes or bumps".  You need to get her records including the report of the endoscopy to see exactly what it says as well as the pathology report of the biopsies. You should always get medical records anyway & keep a copy for yourself. How many biopsies did he take? There should be a minimum of 4, ideally 6. The small intestine is very vast even in a small child. An adults is the size of a tennis court! That's a whole lot of territory so biopsies can miss damage especially when enough of them are not taken! She has 2 positives on the serum panel. This crap about "weak" positives should be thrown out of the nomenclature! A positive is a positive, weak or not! Her DgP IGG is way over the range and extremely telling. As far as my knowledge goes, there is nothing else that causes a positive DgP IGG other than celiac disease. False positives are really rare and to have 2 false positives would be astronomically rare! You are right & smart that she really does need an official diagnosis! IMHO, keep her on gluten for right now. Get a second opinion pronto & I believe you'll be able to get her a dx based on the 4 out of 5 rule if nothing else. I wouldn't think it's going to take more than a month to get to see another doc for a second opinion. Then you can take her off gluten. Kids heal up really fast, way faster than us old geezers! I'm sure as others  wake up & get on their computers they will be along to voice their knowledge. I am in the eastern time zone & rise before the birds so I was on here early. Hang in there mom! You're doing the right thing!
    • 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.   
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