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Please help me read the genetic test

Nora Sofian
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Go to solution Solved by Scott Adams,

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Nora Sofian Rookie
Nora Sofian
Posted

Hello! Before that, I asked you to help me with the results of my tests and you helped me read the answer. There, all the results were negative and the doctor prescribed me a genetic test. Today the test result came back, but I can’t figure out whether I have celiac disease or not. The doctor also prescribed me a gluten diet for two weeks, and then I will have to have a gastroscopy with a biopsy.

Genetic test answers

Interpretation: The findings cannot exclude the suspicion of a coeliac disease. Selected HLA alleles of the DQ2/DQ8 locus and other associated DQB1/A1 alleles were examined. Exclusion of DQ2 and DQ8 has a high Negative Predictive Value.

 

Result:

 

1: Alleles from DQB1 were not detected. 02:01 (DQ2) and/or DQB1 03:02 (DQB)

 

2: Alleles fron DQA1 05:01, 05, 08 (without serological DQ2/8 equivalent) were detected.

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  • Solution
Scott Adams Grand Master
Scott Adams
Posted
  • Solution

Thank you for sharing your results! Based on what you’ve posted, it looks like you have some of the genetic markers that are associated with celiac disease, but the presence of these markers alone doesn’t confirm that you have the disease. Many people have these genes and never develop celiac. The next steps, like the gluten challenge and the biopsy, are important to determine whether you actually have celiac disease. It’s great that your doctor is being thorough. Make sure to follow the gluten diet as instructed so the biopsy can give accurate results. If you’re feeling unsure, it might be worth discussing your results further with your doctor to get more clarity.

Nora Sofian Rookie
Nora Sofian
Posted
  • Author

Thank you very much for your answer @Scott Adams

Yes, I changed the doctor and I think this one understands what he is doing and I hope that we will eventually come to some kind of answer. 

My gluten diet will end soon, I still have a few days left before the biopsy, but it’s hard for me, the symptoms are gradually returning, but I have to be patient otherwise I won’t know my diagnosis.

Scott Adams Grand Master
Scott Adams
Posted

Let us know how it turns out. 

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS. If you should get negative results from your tests, it still by be a good idea to go gluten-free for a while to see how you feel.

Nora Sofian Rookie
Nora Sofian
Posted
  • Author

Yes, of course I will write here when I get a final diagnosis. I'm going for a biopsy on Tuesday, the answer will only be in two weeks. I hope that at the end of the month my doctor will be able to see me and I will know my diagnosis. As soon as I get the biopsy done I will immediately stop eating gluten as I feel good without gluten. The doctor gave me a preliminary diagnosis of NCGS, but he still wants to finally make sure of this, so he ordered a genetic test and biopsy. Thank you very much again for your attention @Scott Adams

  • 3 weeks later...
Nora Sofian Rookie
Nora Sofian
Posted
  • Author

Hello! Finally I got the biopsy results and was at the gastroenterologist. And finally I have my diagnosis. The doctor diagnosed me with NCGS and they found H.pylori (bacteria) I was prescribed a gluten-free diet and a course of antibiotics. Thank you again for your help and advice ☺️ @Scott Adams

Scott Adams Grand Master
Scott Adams
Posted

This article has some detailed information on how to be 100% gluten-free, so it may be helpful (be sure to also read the comments section.):

 

 

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Nora Sofian Rookie
Nora Sofian
Posted
  • Author
1 hour ago, Scott Adams said:

This article has some detailed information on how to be 100% gluten-free, so it may be helpful (be sure to also read the comments section.):

 

 

@Scott Adams I'll check it out! Thanks!

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