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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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    • Hi everyone, I've been reading this forum sporadically and have some questions of my own. I'm in my 40s and was diagnosed with celiac last December by biopsy and blood work after months of tests by my primary and then a gastro. My husband, around the same age as me, was dx'd with stage 4 cancer a month later, so admittedly it's took me longer than I'd have liked to learn about celiac. Now I feel pretty on top of my diet. I mostly make my own food - proteins and veggies, with some certified gluten-free snacks in the mix - and am pretty strict about what I will/won't eat at friend's houses or in restaurants (I prefer to go to dedicated gluten-free kitchens whenever possible). I'm doing okay on the diet, but still getting glutened every so often, usually when I let me guard down outside the home. I also periodically see my primary and a naturopath (who happens to have celiac!), but still, I have many questions if anyone would care to answer:

      -FATIGUE. I'm still so tired, fatigued so much of the time. My doctors blame this on the stress of my husband's diagnosis and my periodic trouble sleeping. But even during weeks where I'm sleeping enough (8-10 hrs a day), eating right, exercising as I can, trying to keep stress at bay, I'm still so bleeping tired. Maybe not when I wake up, but by late afternoon. Often my legs even feel weak/wooden. Has anyone else experienced greater fatigue early on after being diagnosed? This will pass, yes? I know I could cut out the sweets and that could help, but also, being a caregiver is hard and sometimes it's nice to eat your feelings between therapy sessions.  

      -SYMPTOMS CAUSED BY FATIGUE? Sometimes I'll have other "feels like I've been glutened" symptoms if I haven't gotten enough sleep, though I'm trying so hard to sleep at least 8 hours a night these days. Hasn't happened in a while thankfully, but there was a point this summer where my insomnia was bad and my arms were achy and I had some crazy flank/back pain I'd never experienced before. For weeks. Doctor ordered me to sleep sleep sleep, taking Benedryl if needed. I did, and the symptoms went away, but weird, yes? Has this happened to you? I ask because I want to make sure I'm getting all strange pains tested to the full extent if there's a chance it's something other than celiac. I do sometimes still feel that strange side stitch after a CC incident.

      -SKIN PROBLEMS. I have had a smidge of eczema since I was a teen and it - and the dermatitis herpetiformis I've acquired with my dx - are out of control right now. I recognize the connection with stress, but also, has anyone found any great natural remedies for DH to stop the itching? I've tried so many useless ointments and medicated creams, a number of them given to my by a dermo months ago. I see my naturopath this week, but thought I'd ask here too.

      -MOSTLY gluten-free KITCHEN GOOD ENOUGH? My husband is supportive of my diet and mostly eats gluten free meals with me, but we still keep a gluten-y toaster for him and the gluten-y dog food in a corner of the kitchen and he still makes the occasional meal with gluten for himself on his own cookware (ravioli, pizza, mac n cheese, etc). Or sometimes I make eggs/toast and the like for him when he's too sick to move. Otherwise, we're militant about how we cook, which cookware we use, etc. He even has a kitchen nook off our den where he makes sandwiches. But sometimes I wonder if having two separate sponges in our shared-ish main kitchen is enough and I should just banish all gluten whatsoever from the kitchen. I can't be the only one with a mixed kitchen, right? How do you do it if you have a mixed-eating family?

      Thank you so much!  
    • Hang in there!  Count your blessings.  Do something you like to do and relax. I know that is hard to do as a young mother (as I sit here in the kitchen sipping coffee quietly as my teenager is sleeping in after a late football game last night where she marched in 90 degree plus weather in full uniform).   But seriously, take a few minutes to relax!  
    • Meredith, this is very true. A colonoscopy is for diagnosis of the lower intestine, endoscopy for the upper intestine.  How did your doctor interpret the tests? I suggest you read the link Cycling Lady gave you because it contains a lot of good information. 
    • Sorry, but this product (supplement) is not even certified gluten free.   Seems odd that a product geared to Non-Celiac Gluten Intolerance would not take the extra step of getting certified.   I guess I am a Nervous Nellie, especially after the reports that several probiotics were contaminated with gluten.   https://celiac.org/blog/2015/06/probiotics-your-friend-or-foe/
    • Thank you for posting that. I've had a lot of that bloodwork done and everything is normal. At the peak of this belly bug I had blood work done and my white count was fine. I think it's just my health anxiety scaring me into thinking this is something scarier (to me) than celiac. Maybe the anxiety will subside once I go gluten-free. The anxiety is brutal.
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