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Gene Test Results And Questions!

Stillnicelydone

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Stillnicelydone Newbie
Stillnicelydone
Posted

This site is amazing and so helpful. I'm always on it but this is my first post.

 

In short, I have been completely gluten free (except for accidental gluttenings) for more than a year. I had a laundry list of symptom for more than ten years and all testing (no Celiac, gluten-intolerance testing was done) showed nothing. I was told for years that I had IBS and to take meds and that's all that could be done. This wasn't enough for me so I tried a gluten free diet on my own. I didn't know then that I shouldve had an antibody test first. ALL of my symptoms are gone and I no longer have a need for all the rx meds!

 

If I am accidentally gluttened, I'm severely sick. I can't move for about a week and my body hurts all over. The brain fog is so bad that when I "snap out of it", I literally feel like the past few days are a complete blur.

So, while I will never add gluten back to my diet, I still would like to know if I am celiac or non-celiac gluten intolerant. Also, my mom's side of the family has many signs of celiac throughout history. Colitis, colon cancer, diabetes, multiple miscarriages for one relative, etc...So, I requested my primary order a gene test. As most doctors I've worked with, she didnt know much about it or celiac. I did the research and told her what genes to request.

 

Results came back negative for DQ8 and Half Positive for DQ2. That's the short of it. Of course, there are a lot of numbers and what may be chains (?) listed. I don't understand all of that.  I dont understand tTA or rtg, etc..or other testing numbers I read about on these forums that others have results for or if I was even tested for any of that.

My question is can I be celiac with half the DQ2 gene?

If so, how can I go about getting a "diagnosis"? Is an actual diagnosis even important and why?

Third, IF I am celiac and I maintain a strict gluten-free diet, are there other concerns with having celiac? Am I still at a risk for malnutrition or other diseases/ailments?

Any other advice would be greatly appreciated as well!

Thanks!

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Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

Can someone please look at these gene test results and tell me if it's possiblt to have celiac with this result? I was only tested for DQ2 and DQ 8. I am negative DQ 8. I requested the test and my primary doctor called me with the results and told me she thinks I have a very low risk of celiac. She also said she doesnt really know much about celiac and celiac/gene testing. I really feel that I have celiac disease.

Should I have been tested for other genes, as well?

 

Thanks in advance!

 

Here are the results I have:

Positive for DQA1*05

HLA DQ Alleles detected:

DQA1*01:MV, 05:EF

DQB1*03:JVYH, 05:TM

cyclinglady Grand Master
cyclinglady
Posted

I can't answer your specific  question about gene testing. as it's not my area of expertise.   Gene testing is usually a diagnostic tool that can help diagnose/eliminate Celiac Disease or an intolerance when there are issues with the Celiac Blood Panel or biopsies.    It just tells you that you could someday develop it.   Here's an article that explains it better:

 

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

 

But, I think you already have your answer -- gluten isn't for you.  

 

If you want a definitive diagnosis, you're going to have to consume gluten.  You can research what it takes to do gluten challenge.   A diagnosis is important if you know you'll need it to adhere to the diet.  There are many people who participate on this forum who do not have a celiac disease diagnosis, but they think and know they have a gluten intolerance.  For instance, my husband who's been gluten-free for 12 years based on the advice of my allergist and his GP/PCP.  He refuses to do a challenge.  Why bother?  He knows it makes him ill.  I, on the other hand, have a celiac disease diagnosis when I had no visible symptoms other than anemia and thyroiditis.  Either way, our home is gluten free.

 

If you maintain a gluten free diet, you should be healthy.  If you have celiac disease, you might develop other related autoimmune disorders or maybe not!

You should make sure that your normal labs (iron levels, Vit. D, etc.) are on target, but being gluten free won't make you malnourished.  You still need to eat wholesome fruits and veggies, etc.

 

Good Luck!

kareng Grand Master
kareng
Posted

Here are the results I have:Positive for DQA1*05HLA DQ Alleles detected:DQA1*01:MV, 05:EFDQB1*03:JVYH, 05:TMDoes anyone know how to translate this?

I don't see an HLA DQ2? I am at the International Celiac Disease Symposium right now. All the doctors say that, except for a very rare exception, you must have a HLA DQ2 or DQ8. DQ2 is the most common. They say there are other genes that contribute to the expression of the DQ2 or 8 but you do not have Celiac without the 2 or 8.

That doesn't mean that eating gluten free or gluten extremely light might not make you feel better.

GF Lover Rising Star
GF Lover
Posted

Karens reply to your first post pretty much says it all

 

I don't see an HLA DQ2? I am at the International Celiac Disease Symposium right now. All the doctors say that, except for a very rare exception, you must have a HLA DQ2 or DQ8. DQ2 is the most common. They say there are other genes that contribute to the expression of the DQ2 or 8 but you do not have Celiac without the 2 or 8.

That doesn't mean that eating gluten free or gluten extremely light might not make you feel better

 

Maybe you missed it?

 

All the best.

 

Colleen 

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

I can't answer your specific  question about gene testing. as it's not my area of expertise.   Gene testing is usually a diagnostic tool that can help diagnose/eliminate Celiac Disease or an intolerance when there are issues with the Celiac Blood Panel or biopsies.    It just tells you that you could someday develop it.   Here's an article that explains it better:

 

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

 

But, I think you already have your answer -- gluten isn't for you.  

 

If you want a definitive diagnosis, you're going to have to consume gluten.  You can research what it takes to do gluten challenge.   A diagnosis is important if you know you'll need it to adhere to the diet.  There are many people who participate on this forum who do not have a celiac disease diagnosis, but they think and know they have a gluten intolerance.  For instance, my husband who's been gluten-free for 12 years based on the advice of my allergist and his GP/PCP.  He refuses to do a challenge.  Why bother?  He knows it makes him ill.  I, on the other hand, have a celiac disease diagnosis when I had no visible symptoms other than anemia and thyroiditis.  Either way, our home is gluten free.

 

If you maintain a gluten free diet, you should be healthy.  If you have celiac disease, you might develop other related autoimmune disorders or maybe not!

You should make sure that your normal labs (iron levels, Vit. D, etc.) are on target, but being gluten free won't make you malnourished.  You still need to eat wholesome fruits and veggies, etc.

 

Good Luck!

Thank you Karen! I agree, gluten is definitely not for me. I could not do a gluten challenge, either. I am just wondering how valuable an actual diagnosis is but you helped answer that. Thanks so much!

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

I don't see an HLA DQ2? I am at the International Celiac Disease Symposium right now. All the doctors say that, except for a very rare exception, you must have a HLA DQ2 or DQ8. DQ2 is the most common. They say there are other genes that contribute to the expression of the DQ2 or 8 but you do not have Celiac without the 2 or 8.

That doesn't mean that eating gluten free or gluten extremely light might not make you feel better.

My results say I am positive for Half the DQ2. And then that paragraph is listed below that. Can you be celiac positive with half a DQ2 gene?

Thanks!

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Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

Karens reply to your first post pretty much says it all

 

I don't see an HLA DQ2? I am at the International Celiac Disease Symposium right now. All the doctors say that, except for a very rare exception, you must have a HLA DQ2 or DQ8. DQ2 is the most common. They say there are other genes that contribute to the expression of the DQ2 or 8 but you do not have Celiac without the 2 or 8.

That doesn't mean that eating gluten free or gluten extremely light might not make you feel better

 

Maybe you missed it?

 

All the best.

 

Colleen 

Thank you, Colleen. I did miss it. I'm still trying to figure out how to navigate the forums and my own postings! I think I may have also posted my results wrong. The results say I am positive for Half the DQ2 gene and then those other numbers were all listed on the next page.

notme Experienced
notme
Posted

My results say I am positive for Half the DQ2. And then that paragraph is listed below that. Can you be celiac positive with half a DQ2 gene?

Thanks!

i thought you were either positive or negative for a gene - how do you have half a gene?  i have never had a gene test, so i have no idea.............  just curious   :)

GF Lover Rising Star
GF Lover
Posted

I never heard of the half gene either..

 

Celiac gene testing explained here.. Open Original Shared Link

 

 

Colleen 

debbienagle Newbie
debbienagle
Posted

My test results came back:

Celiac DQ Alpha 1 01, 02   Celiac DQ Beta 1

03, 05

The test had celiac gene pairs "see comment" which wasn't attached.  Anyone have a clue as to what these results mean?

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

i thought you were either positive or negative for a gene - how do you have half a gene?  i have never had a gene test, so i have no idea.............  just curious   :)

I didn't know either until I got these results back. It's my understanding that there are two subunits to a gene, a beta and an alpha. I believe the results list I received may tell which unit I am positive for. I just don't know how to translate! I found a helpful article on this site from 2008

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

 

I have been to a lot of doctors and havent found one that is comfortable speaking about, yet alone knowledgeable in Celiac/NCGS. There's a specialist in this city who is well-known, out of network of all insurance carriers. I 'd like to see her but will have to wait to budget that and just trying to find out as much as I can on my own for now.

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

I never heard of the half gene either..

 

Celiac gene testing explained here.. Open Original Shared Link

 

 

Colleen 

Thanks, Colleen! This article from this site (celiac.com) breaks it down even further and apparently its not uncommon to be positive for only one copy of the gene. I am just curious if the results listed indicate which subunit.

  I do know I'm half positive for DQ2 which is the most significant. And more recent studies I've read suggest other genes are now emerging as relative to celiac. There's still so much to learn in the world of science.

 

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

My test results came back:

Celiac DQ Alpha 1 01, 02   Celiac DQ Beta 1

03, 05

The test had celiac gene pairs "see comment" which wasn't attached.  Anyone have a clue as to what these results mean?

Your numbers look very similar to my results, if you subtract the letters that are included. Maybe you used a different lab than I.

Stillnicelydone Newbie
Stillnicelydone
Posted
  • Author

Your numbers look very similar to my results, if you subtract the letters that are included. Maybe you used a different lab than I.

another helpful link

 

Open Original Shared Link

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