Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Please help me read the genetic test


Nora Sofian
Go to solution Solved by Scott Adams,

Recommended Posts

Nora Sofian Rookie

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.


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



  • Solution
Scott Adams Grand Master

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

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

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

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

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

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.):

 

 


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



Nora Sofian Rookie
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!

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!

Register a new account

Sign in

Already have an account? Sign in here.

Sign In Now

  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      130,741
    • Most Online (within 30 mins)
      7,748

    mazza1976
    Newest Member
    mazza1976
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.3k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • Scott Adams
      In general with pharmaceutical products cross-contamination is a much lower risk.
    • Scott Adams
      Here is more info about how to do a gluten challenge for a celiac disease blood panel, or for an endoscopy: and this recent study recommends 4-6 slices of wheat bread per day:    
    • trents
      Just so you'll know, once you have been gluten-free for any length of time, it will invalidate testing for celiac disease.
    • QueenBorg
      Yes. I have not been tested for celiac. It took forever to get diagnosed with Fibromyalgia. lol. I have an appointment with my regular GP later this month and will convey my findings on improved symptoms and see what his thoughts are. Thank you. 
    • knitty kitty
      @Grahamsnaturalworld, It's never too late.   Have you been checked for Small Intestinal Bacterial Overgrowth?  SIBO can cause ongoing symptoms.  Mast Cell Activation Syndrome (MCAS) and Histamine Intolerance (HIT) can also be the cause of ongoing symptoms.  The AIP diet can help with these by starving out SIBO bacteria and calming the immune system. Do you include dairy in your diet?  Casein in dairy can cause an autoimmune response the same as to gluten.  Have you been checked for lactose intolerance?  Some people lose the ability to produce the enzyme, lactase, needed to digest lactose, the sugar in dairy because the villi where the lactase enzyme is made are damaged.  AIP diet excludes dairy. Do you include grains in your diet?  Gluten free alternative grains and ancient grains can be inflammatory and cause symptoms.  Some people with Celiac react to corn and oats.  The AIP diet excludes all grains.  Lectins in grains can be inflammatory and cause symptoms. Do you eat nightshades (tomatoes, potatoes, peppers, and eggplant).  This family of plants produce glycoalkaloids, chemicals that promote Leaky Gut Syndrome.  The AIP diet excludes nightshades.   Are you on any medications?  Some medications can cause gastrointestinal symptoms.  Do you take any supplements?  Some herbal teas and supplements can cause digestive symptoms.  Medications for diabetes, antidepressants, and other pharmaceuticals can cause digestive symptoms as side effects. Have you been checked for nutritional deficiencies?  Malabsorption of essential nutrients can occur with continued symptoms.  Deficiencies in Niacin, Thiamine, and other B vitamins can cause digestive symptoms.  Gastrointestinal Beriberi and Pellagra are often overlooked by doctors because they are not familiar with nutritional deficiency disease symptoms.  Nutritional deficiencies can worsen over time as stores inside the body are depleted.   Have your doctors checked for all these?   I had a horrible time getting my symptoms under control.  I had to answer all these questions myself.  Yes, it's frustrating and exasperating because doctors don't have to live with these symptoms everyday. Interesting reading: AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review https://pubmed.ncbi.nlm.nih.gov/36137844/
×
×
  • Create New...