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Would You Pay For Genetic Testing At This Point?

birdie22

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birdie22 Enthusiast
birdie22
Posted

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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shadowicewolf Proficient
shadowicewolf
Posted

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

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

ravenwoodglass Mentor
ravenwoodglass
Posted

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.

anabananakins Explorer
anabananakins
Posted

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.

birdie22 Enthusiast
birdie22
Posted
  • Author

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.

IrishHeart Veteran
IrishHeart
Posted

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?

birdie22 Enthusiast
birdie22
Posted
  • Author

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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Lisa Mentor
Lisa
Posted

You may find this of interest:

Open Original Shared Link

GottaSki Mentor
GottaSki
Posted

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.

1desperateladysaved Proficient
1desperateladysaved
Posted

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.

IrishHeart Veteran
IrishHeart
Posted

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:

Open Original Shared Link

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

:)

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