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Gene Testing Results

MacieMay

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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.

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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.

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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.

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    • catnapt
      how much gluten do I need to eat before blood tests?

      By catnapt · Posted

      after several years of issues with a para-gland issue, my endo has decided it's a good idea for me to be tested for celiac disease. I am 70 yrs old and stunned to learn that you can get celiac this late in life. I have just gradually stopped eating most foods that contain gluten over the past several years- they just make me feel ill- although I attributed it to other things like bread spiking blood sugar- or to the things I ate *with* the bread or crackers etc   I went to a party in Nov and ate a LOT of a vegan roast made with vital wheat gluten- as well as stuffing, rolls and pie crust... and OMG I was so sick! the pain, the bloating, the gas, the nausea... I didn't think it would ever end (but it did) and I was ready to go the ER but it finally subsided.   I mentioned this to my endo and now she wants me to be tested for celiac after 2 weeks of being on gluten foods. She has kind of flip flopped on how much gluten I should eat, telling me that if the symptoms are severe I can stop. I am eating 2-3 thin slices of bread per day (or english muffins) and wow- it does make me feel awful. But not as bad as when I ate that massive amnt of vital wheat gluten. so I will continue on if I have to... but what bothers me is - if it IS celiac, it seems stupid for lack of a better word, to intentionally cause more damage to my body... but I am also worried, on the other hand, that this is not a long enough challenge to make the blood work results valid.   can you give me any insight into this please?   thank you
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