Gene Test Results - Need Interpretation Help, PLEASE!

[ktyler44]

I posted on here a few days ago asking for help understanding my test results since my doctor didn't know how to interpret them. However, no one has replied. PLEASE can someone help me understand these results? I think it is listing the ones I tested positive for, which includes the DQ2 gene carried by 90% of people with Celiac. 

HLA DRB1, DQB1 LOW RESOLUTION
DRB1 DRB1*07 (DR7)
DRB1 DRB1*11 (DR11)
DQB1 DQB1*02 (DQ2)
DQB1 DQB1*03 (DQ7)
COMMENT SEE BELOW.
Serologic equivalent is given in parentheses.

When only a single antigen or allele is detected, it likely indicates homozygosity and is reported accordingly. However, additional testing would be required for confirmation.

Low resolution HLA typings are routinely performed by PCR-rSSO or PCR-SSP methodologies.

 

Thank you in advance for your help.

 

 

[cyclinglady]

Most of the current members have not had the gene testing.  I did not.  So, i have not researched it enough to even attempt to comment on your results.    The gene test helps to rule out celiac disease.  Some 30% of the population carries the genes, but only a very few (1%) actually go on to develop celiac disease in their lifetime.   The gene test does not diagnose celiac disease.

i looked at your earlier posting.  You tested negative to the TTG Iga, but that is only part of the celiac panel.  The TTg is an excellent test but it does not catch all celiacs.  I personally test negative to it even in follow-up testing.  Ask your doctor for the EMA and the DGP before you give up.  Also, i can not recall if you had been on a gluten-free diet  All blood tests require you to consume gluten daily for 8 to 12 weeks prior to the blood draw or the test are invalid.  

Edit:

I went back and read your postings.  You need to find a celiac-savvy GI.  One who knows not to test for celiac disease unless  you have been consuming gluten for 8 to 12 weeks prior to the blood draw.  One that can read the gene results.  One that performs an endoscopy and takes biopsies (yours did not!)

My heart goes out to you being in diagnostic limboland.   I hope you figure it out.  

[ktyler44]

Thank you for your reply. A couple of years or so ago, I had been having several issues, including a lot of mucous and coughing after eating most meals. After researching, I decided to try going gluten free for awhile. Then I asked the doctor I had at the time for a gluten test. They told me I had to be consuming gluten for it to show anything, so I went back on gluten. I had only been back on gluten for a week or two and they told me that was long enough. I know now that it wasn't. That's when they did the blood test. I had asked for the full panel of tests, but as you can see, they didn't do that. I also had a colonoscopy scheduled just because I was at the age they recommended one for screening purposes, so I asked him to do an endoscopy at the same time and to biopsy me. He did, but not for Celiac. He only biopsied for h-pylori. I was so aggravated to have gone through that for nothing. I have since changed doctors and when I told her about my symptoms, she asked if I had ever been tested for Celiac. I told her what had happened and she offered to redo the tests. By that time, though, I had gone off gluten and had no intentions of going back on to be tested. I was starting to feel much better. So we finally did the gene test to rule it out, but instead of ruling it out, it did show the DQ2 gene. I've also read that the DQ7, while not being as strong as the DQ2 and DQ8, is also common in combination with the DQ2 in Celiacs. So while I know this is not a diagnosis, it appears to coincide with my symptoms. The problem is that my doctor isn't familiar with this test. I was the one who requested it because I knew I didn't have to go back on gluten for it. She is very willing and eager to help, so I don't fault her for that. But she wasn't sure how to interpret the results. I've had to do my own research on it to try to figure it out. She has put in a call to the Lab boss to get an interpretation from the lab, but they haven't responded yet. That's why I was hoping someone on here may have seen this before and could help.

Thank you.

[cyclinglady]

If you have been in a gluten free diet for over a year, you should have seen improvement if you have  celiac disease or Non-Celiac Gluten Intolerance.  I am assuming that you are still having the throat issues?  Have you researched Mast Cell Activation Syndrome?  It is kind of like an allergy, but not.  No cure, but there is some treatment for it.  It is a new disease, so most doctors are not knowledgeable about it.  What about your EOE theory?  Do antihistamines help?  

I was diagnosed, but my hubby went gluten-free some  15 years ago (12 years before me) was not diagnosed.  He has flourished on the gluten-free diet.  He refuses to do a gluten challenge (can not blame him as he is our primary breadwinner).  I guess i am saying is that you can be gluten-free without a diagnosis.  

[ktyler44]

Yes, I am gluten-free. I rarely have a problem with my throat anymore. Only when I eat too much dairy. I caved one day a couple of months ago when I went to my son's house for dinner. My daughter-in-law had fixed a pasta dish, garlic bread, and browines for dessert. I told myself that since I hadn't been diagnosed, maybe it was all in my head. I pigged out on the dinner and paid for it for almost a week. My bowels got bound up and my stomach hurt so bad. I said I wouldn't do that again. I guess it is just the not knowing for sure that bothers me.

[cyclinglady]

It sounds like it is not in your head.  Gluten is a problem for you.  

My hubby will be the first to say that I have received way more support from medical, family and friends with my diagnosis.  But after a year of trialing the gluten-free diet , we knew it worked for him.    I had food intolerances and allergies, so we worked around his gluten-free diet  (and mine) for over a decade.  You can imagine how shocked I was when during my GI consult for a routine colonoscopy, he recommended celiac testing.   I had a long history of anemia, but  at the time I had no GI issues.  Biopsies were positive and I only tested positive on the DGP IgA blood test.  

I would suggest that if you suspect any family members who are ill, that they get tested.  My Aunt and Cousin went gluten-free too before my diagnosis (and they are nurses).  We feel stongly that they have celiac disease but they too refuse to do a gluten challenge.  Gluten makes them sick.  Now, we are telling family members to get tested before going gluten-free.   And we are telling them to get the complete panel because many doctors just order the screeening TTg test.  Someone in my family is bound to test weird like me.  Unfortunately, most of my family does not want to know if they have celiac disease. So, if symptom free, they are not testing.    My niece had gut issues, but she tested negative on the complete panel.  A pill camera caught her Crohn's diagnosis (way worse than celiac disease).  

See if your doctor can give you a NCGI diagnosis.  That would be helpful to you and others.  If not, just stay gluten-free.  

[ktyler44]

Would I have to go back on gluten for that test? If so, it's not worth it to me.

[cyclinglady]

8 minutes ago, ktyler44 said:

Would I have to go back on gluten for that test? If so, it's not worth it to me.

No, a NCGI diagnosis is based on a excluding celiac disease.  There is no test for it.   It may help to have it documented so that you could get more family support if needed.  My parents could not believe that I had celiac disease since I had no intestinal symptoms.  But they saw my test results and I carry a letter from my GI that simply states that I need to be on a gluten-free diet.