Jump to content

  • 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

Gene Testing Results

MacieMay

Recommended Posts

MacieMay Explorer
MacieMay
Posted

These are my daughters gene testing results....

DQ2-,DQ8-

It states... CELIAC RISK GENES NOT DETECTED!

This was done through our GI Dr at Childrens Hospital Boston. Does this mean there is NO WAY she could be celiac or ever become celiac? That is what her Dr. told me.

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

Celiac.com Sponsor (A8-M):


Gluten Glutton Newbie
Gluten Glutton
Posted

These are my daughters gene testing results....

DQ2-,DQ8-

It states... CELIAC RISK GENES NOT DETECTED!

This was done through our GI Dr at Childrens Hospital Boston. Does this mean there is NO WAY she could be celiac or ever become celiac? That is what her Dr. told me.

I'm not even going to try and interpret genetic testing results because I know so very little about them, but I will say that I started a thread here last night about not knowing whether or not I have a gluten intolerance or celiac because I was never tested before going gluten-free, but that I feel so much better off the gluten. The responses I'm reading today might also be interesting to you. Here's the thread:

The thing I'm taking away from it most is that testing might give some of us a label (celiac) but that's just one type of intolerance to gluten. Just because you don't have celiac, doesn't mean you can eat the stuff. I'm having my kids tested to see if anything comes up, but I know based on symptoms that at least two of them would likely do much better gluten-free no matter what the tests say.

In short, she may not have the genetic disposition to get celiac, but that doesn't mean gluten isn't making her sick. As parents, we know more than anyone what our children need. I don't know if your daughter is on a gluten-free diet or not, but if she is and is doing well, then in my humble opinion that's all that matters :)

All the best,

Amanda

kayo Explorer
kayo
Posted

MacieMay,

My understanding is that DQ2 and DQ8 are the recognized celiac genes.

Quick google shows:

Genetic predisposition plays a key role in celiac disease and considerable progress has been made recently in identifying genes that are responsible for celiac disease predisposition. It is well known that celiac disease is strongly associated with specific HLA class II genes known as HLA-DQ2 and HLA-DQ8 located on chromosome 6p21.

From: Open Original Shared Link

Gemini Experienced
Gemini
Posted

These are my daughters gene testing results....

DQ2-,DQ8-

It states... CELIAC RISK GENES NOT DETECTED!

This was done through our GI Dr at Childrens Hospital Boston. Does this mean there is NO WAY she could be celiac or ever become celiac? That is what her Dr. told me.

It would seem that the lab either made a huge mistake in interpreting your daughter's results or they know nothing about Celiac Disease. Those are the 2 main Celiac related genes. I would call the doctor back and ask him outright why they have made such an error. I should also add that, while extremely rare, people can and do trigger fro Celiac without carrying the genetic predisposition.

cassP Contributor
cassP
Posted

These are my daughters gene testing results....

DQ2-,DQ8-

It states... CELIAC RISK GENES NOT DETECTED!

This was done through our GI Dr at Childrens Hospital Boston. Does this mean there is NO WAY she could be celiac or ever become celiac? That is what her Dr. told me.

1st off- DQ2 & DQ8 are the MOST SPECIFIC "CLASSIC" genes for Celiac, altho- there are MANY MORE DQ genes that can predispose u to Celiac!

2nd- are those lab results stating that she is "DQ2 Negative, DQ8 Negative????

and- even if they are stating that she is negative on those 2 genes- that doesnt mean she in no way could have Celiac. there are biopsy diagnosed members on here with neither of those genes.. and they are diagnosing Celiacs in Europe with neither of those genes

jerseyangel Proficient
jerseyangel
Posted

DQ2-,DQ8-

It looks to me as though these were negative--going by the (-) after each.

It's my opinion, from what my GI told me after running the gene testing, that a lot of doctors think that without the DQ2 or DQ8, the chances of a person having Celiac are almost nil. I am positive for DQ2, but she told me that they rule Celiac out in the absence of those two main genes. I'm thinking that this doctor feels the same.

There are people here on this board who have been diagnosed without either of those genes, and from what I understand there are other genes associated with Celiac that are recognized in Europe.

Skylark Collaborator
Skylark
Posted

These are my daughters gene testing results....

DQ2-,DQ8-

It states... CELIAC RISK GENES NOT DETECTED!

This was done through our GI Dr at Childrens Hospital Boston. Does this mean there is NO WAY she could be celiac or ever become celiac? That is what her Dr. told me.

No, it just means it's unlikely, like 1 in 500. Doctors are overly fond of extremes. We have people who are not DQ2 or DQ8 with very severe celiac disease on the board, and celiacs without those genes were picked up in a very large genetic study too.

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

Celiac.com Sponsor (A8-M):


MacieMay Explorer
MacieMay
Posted
  • Author

1st off- DQ2 & DQ8 are the MOST SPECIFIC "CLASSIC" genes for Celiac, altho- there are MANY MORE DQ genes that can predispose u to Celiac!

2nd- are those lab results stating that she is "DQ2 Negative, DQ8 Negative????

and- even if they are stating that she is negative on those 2 genes- that doesnt mean she in no way could have Celiac. there are biopsy diagnosed members on here with neither of those genes.. and they are diagnosing Celiacs in Europe with neither of those genes

Yes those are negatives. Thanks for the insight!

MacieMay Explorer
MacieMay
Posted
  • Author

It would seem that the lab either made a huge mistake in interpreting your daughter's results or they know nothing about Celiac Disease. Those are the 2 main Celiac related genes. I would call the doctor back and ask him outright why they have made such an error. I should also add that, while extremely rare, people can and do trigger fro Celiac without carrying the genetic predisposition.

Those are negatives at the end. Thanks for the feedback.

ravenwoodglass Mentor
ravenwoodglass
Posted

No, it just means it's unlikely, like 1 in 500. Doctors are overly fond of extremes. We have people who are not DQ2 or DQ8 with very severe celiac disease on the board, and celiacs without those genes were picked up in a very large genetic study too.

I am one of those people and am firmly diagnosed celiac. I thankfully wasn't gene tested until 5 years after I was diagnosed. My DD after having both positive blood and biopsy and being diagnosed and doing better on the diet was told by another doctor who did gene testing that she could never become celiac and the blood and biopsy tests were wrong. They weren't wrong but now she is back on gluten and attributes everything to 'stress'. I fear for her but there is nothing I can do. Go with response to the diet. That is the best test we have at present. If you haven't had blood tests and biopsy done have those done before going gluten free but keep in mind that false negatives on those are not uncommon.

Roda Rising Star
Roda
Posted

I've never had the gene tests and I very well may never get them done for the very reason that some GI could tell me after the fact I don't have it based on the genetics alone. I am blood and biopsy diagnosed.

Marlie Apprentice
Marlie
Posted

I can tell you this about my daughter who just went through a whole series of tests and I still don't know what quite to make of it. First test of a Celiac Panel done by Quest TTG negative, EMA negative. Second Test done by Prometheus Labs Ttg and EMA negative, DGP IgA and IgG both Positive, Total IGA 67. Next testing Biopsy : Positive. Latest Testing: Negative Genetics. Go figure. My daughter has been gluten free now for two weeks. Results: Definitely feeling better, acne diminishing everyday with no meds when none worked previously. Got Gluttened by cross contamination at pizza place. Results: Headache, dizziness, stomach pain, numbness in hands, stomach bloating (never seen this one before), and fatigue.

I honestly don't know what to make of all this but this is what we are going through.

kayo Explorer
kayo
Posted

I missed the negatives too. Maybe I need new B)

I firmly believe more genes are associated with celiac and many that are yet to be discovered. I'm DQ4 and DQ5 and though my tests were negative due to being gluten-free at the time of testing my doc firmly believes I have celiac. My sister is also celiac and is awaiting gene testing.

Skylark Collaborator
Skylark
Posted

I can tell you this about my daughter who just went through a whole series of tests and I still don't know what quite to make of it. First test of a Celiac Panel done by Quest TTG negative, EMA negative. Second Test done by Prometheus Labs Ttg and EMA negative, DGP IgA and IgG both Positive, Total IGA 67. Next testing Biopsy : Positive. Latest Testing: Negative Genetics. Go figure. My daughter has been gluten free now for two weeks. Results: Definitely feeling better, acne diminishing everyday with no meds when none worked previously. Got Gluttened by cross contamination at pizza place. Results: Headache, dizziness, stomach pain, numbness in hands, stomach bloating (never seen this one before), and fatigue.

I honestly don't know what to make of all this but this is what we are going through.

I mentioned in your other thread that DGP and a positive biopsy is absolutely, positively celiac. The genetics are not 100% but rather a risk factor and do no over-ride the biopsy. The TTG and EMA are less sensitive, which is why they came back negative.

Archived

This topic is now archived and is closed to further replies.

Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. AlwaysLearning
      - AlwaysLearning replied to Colleen H's topic in Coping with Celiac Disease
      3

      Gluten related ??

      Get tested for vitamin deficiencies. Though neuropathy can be a symptom of celiac, it can also be caused by deficiencies due to poor digestion caused by celiac and could be easier to treat.
    2. Colleen H
      - Colleen H replied to Colleen H's topic in Coping with Celiac Disease
      3

      Gluten related ??

      Thank you so much for your response Yes it seems as though things get very painful as time goes on. I'm not eating gluten as far as I know. However, I'm not sure of cross contamination. My system seems to weaken to hidden spices and other possibilities. ??? if cross contamination is possible...I am in a super sensitive mode of celiac disease...
    3. Jmartes71
      - Jmartes71 replied to Jmartes71's topic in Coping with Celiac Disease
      4

      My only proof

      EXACTLY! I was asked yesterday on my LAST video call with Standford and I stated exactly yes absolutely this is why I need the name! One, get proper care, two, not get worse.Im falling apart, stressed out, in pain and just opened email from Stanford stating I was rude ect.I want that video reviewed by higher ups and see if that women still has a job or not...
    4. AlwaysLearning
      - AlwaysLearning replied to Jmartes71's topic in Coping with Celiac Disease
      4

      My only proof

      We feel your pain. It took me 20+ years of regularly going to doctors desperate for answers only to be told there was nothing wrong with me … when I was 20 pounds underweight, suffering from severe nutritional deficiencies, and in a great deal of pain. I had to figure it out for myself. If you're in the U.S., not having an official diagnosis does m...
    5. AlwaysLearning
      - AlwaysLearning replied to Colleen H's topic in Coping with Celiac Disease
      3

      Gluten related ??

      If you're just starting out in being gluten free, I would expect it to take months before you learned enough about hidden sources of gluten before you stopped making major mistakes. Ice cream? Not safe unless they say it is gluten free. Spaghetti sauce? Not safe unless is says gluten-free. Natural ingredients? Who knows what's in there. You pretty much...
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      132,084
    • Most Online (within 30 mins)
      7,748
    bigwave
    Newest Member
    bigwave
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Who's Online (See full list)

  • Upcoming Events

  • Posts

    • AlwaysLearning
      Gluten related ??

      By AlwaysLearning · Posted

      Get tested for vitamin deficiencies.  Though neuropathy can be a symptom of celiac, it can also be caused by deficiencies due to poor digestion caused by celiac and could be easier to treat.
    • Colleen H
      Gluten related ??

      By Colleen H · Posted

      Thank you so much for your response  Yes it seems as though things get very painful as time goes on.  I'm not eating gluten as far as I know.  However, I'm not sure of cross contamination.  My system seems to weaken to hidden spices and other possibilities. ???  if cross contamination is possible...I am in a super sensitive mode of celiac disease.. Neuropathy from head to toes
    • Jmartes71
      My only proof

      By Jmartes71 · Posted

      EXACTLY! I was asked yesterday on my LAST video call with Standford and I stated exactly yes absolutely this is why I need the name! One, get proper care, two, not get worse.Im falling apart, stressed out, in pain and just opened email from Stanford stating I was rude ect.I want that video reviewed by higher ups and see if that women still has a job or not.Im saying this because I've been medically screwed and asking for help because bills don't pay itself. This could be malpratice siit but im not good at finding lawyers
    • AlwaysLearning
      My only proof

      By AlwaysLearning · Posted

      We feel your pain. It took me 20+ years of regularly going to doctors desperate for answers only to be told there was nothing wrong with me … when I was 20 pounds underweight, suffering from severe nutritional deficiencies, and in a great deal of pain. I had to figure it out for myself. If you're in the U.S., not having an official diagnosis does mean you can't claim a tax deduction for the extra expense of gluten-free foods. But it can also be a good thing. Pre-existing conditions might be a reason why a health insurance company might reject your application or charge you more money. No official diagnosis means you don't have a pre-existing condition. I really hope you don't live in the U.S. and don't have these challenges. Do you need an official diagnosis for a specific reason? Else, I wouldn't worry about it. As long as you're diligent in remaining gluten free, your body should be healing as much as possible so there isn't much else you could do anyway. And there are plenty of us out here who never got that official diagnosis because we couldn't eat enough gluten to get tested. Now that the IL-2 test is available, I suppose I could take it, but I don't feel the need. Someone else not believing me really isn't my problem as long as I can stay in control of my own food.
    • AlwaysLearning
      Gluten related ??

      By AlwaysLearning · Posted

      If you're just starting out in being gluten free, I would expect it to take months before you learned enough about hidden sources of gluten before you stopped making major mistakes. Ice cream? Not safe unless they say it is gluten free. Spaghetti sauce? Not safe unless is says gluten-free. Natural ingredients? Who knows what's in there. You pretty much need to cook with whole ingredients yourself to avoid it completely. Most gluten-free products should be safe, but while you're in the hypersensitive phase right after going gluten free, you may notice that when something like a microwave meal seems to not be gluten-free … then you find out that it is produced in a shared facility where it can become contaminated. My reactions were much-more severe after going gluten free. The analogy that I use is that you had a whole army of soldiers waiting for some gluten to attack, and now that you took away their target, when the stragglers from the gluten army accidentally wander onto the battlefield, you still have your entire army going out and attacking them. Expect it to take two years before all of the training facilities that were producing your soldiers have fallen into disrepair and are no longer producing soldiers. But that is two years after you stop accidentally glutening yourself. Every time you do eat gluten, another training facility can be built and more soldiers will be waiting to attack. Good luck figuring things out.   
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.