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Genetic tests

asaT
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Go to solution Solved by Scott Adams,

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asaT Rookie
asaT
Posted

I was just diagnosed a few weeks ago and now some family members are being tested, just wanted some input on that.

I have the HLA-DQ2.5 gene haplotype according to 23&me and so does my brother. He has yet to go in and get antibody testing. He has 3 boys. One (12y.o at the time)has been diagnosed with UC and had negative antibody titer when that was done (but no s.i. biopsy). The other one (10 y.o at time) had upper gi scope for swallowing problems and had a s.i. biopsy which was negative for celiacs, it seemed to be an esophageal problem. No known problems with the third youngest one. He wants to do genetic testing on them before doing anything else. His insurance is horrible and won't pay for anything so he is looking at the tests you can order online. 

My question is, is the 23 and me test sufficient? the other one we were looking at is this: https://rxhometest.com/product/search/celiac

They are both $129, but the 23&me obviously has a lot more extra info other than the celiacs. Which one should they do? Or any other recomnendations?

Thanks!

Asa

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asaT Rookie
asaT
Posted
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Also my mom is having antibody testing done as she has many symptoms, BUT she tests negative on the 23&me test for a celiacs variant. So i'm not sure if 23 and me picks up all the genes? 

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Scott Adams Grand Master
Scott Adams
Posted
  • Solution

23 and me should work for most of the basic genetic markers (I'm not sure about the other company, but it would likely be fine as well).

He may also want to try this for a blood screening on his family: https://www.imaware.health/

Interestingly, my daughter's main symptom was the feeling that there was always food stuck in her throat/esophagus, when there wasn't. She had elevated enzymes but was just below the cut off for celiac disease, but went gluten-free because of the throat symptoms, which went a way after she went gluten-free.

 

asaT Rookie
asaT
Posted
  • Author
On 10/21/2022 at 10:36 AM, asaT said:

I was just diagnosed a few weeks ago and now some family members are being tested, just wanted some input on that.

I have the HLA-DQ2.5 gene haplotype according to 23&me and so does my brother. He has yet to go in and get antibody testing. He has 3 boys. One (12y.o at the time)has been diagnosed with UC and had negative antibody titer when that was done (but no s.i. biopsy). The other one (10 y.o at time) had upper gi scope for swallowing problems and had a s.i. biopsy which was negative for celiacs, it seemed to be an esophageal problem. No known problems with the third youngest one. He wants to do genetic testing on them before doing anything else. His insurance is horrible and won't pay for anything so he is looking at the tests you can order online. 

My question is, is the 23 and me test sufficient? the other one we were looking at is this: https://rxhometest.com/product/search/celiac

They are both $129, but the 23&me obviously has a lot more extra info other than the celiacs. Which one should they do? Or any other recomnendations?

Thanks!

Asa

Thanks for the info Scott. Hopefully we will get some answers soon. The one with the swallowing problems had a biopsy which they said ruled out celiacs, but only one sample was taken and no blood test was done that i am aware of, but its possible he just didn't tell me. I think he would have though because i have been a pain in the ass about it. now i have to tell him that one sample is not a good test. i think i'll wait til the genetic tests come back though. if he has the gene then i'll mention it, if not, then i can stop talking about it!

Scott Adams Grand Master
Scott Adams
Posted

I think it would be worth asking if they did a blood test, and if so, try to get the results and share them here. Either way, note that there is a condition called non-celiac gluten sensitivity which around 10x more people have than celiac disease, and unfortunately they have not yet developed a test for it. It may make sense to just try out the gluten-free diet after all celiac testing is done, just to see if symptoms improve. Note that a gene test won't be affected either way when someone is on a gluten-free diet, but celiac disease tests will be affected (patients should continue eating gluten until all celiac testing is finished).

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