• Ads by Google:
     




    Get email alerts Subscribe to Celiac.com's FREE weekly eNewsletter

    Ads by Google:



       Get email alertsSubscribe to Celiac.com's FREE weekly eNewsletter

  • Announcements

    • admin

      Frequently Asked Questions About Celiac Disease   09/30/2015

      This Celiac.com FAQ on celiac disease will guide you to all of the basic information you will need to know about the disease, its diagnosis, testing methods, a gluten-free diet, etc.   Subscribe to Celiac.com's FREE weekly eNewsletter   What are the major symptoms of celiac disease? Celiac Disease Symptoms What testing is available for celiac disease? - list blood tests, endo with biopsy, genetic test and enterolab (not diagnostic) Celiac Disease Screening Interpretation of Celiac Disease Blood Test Results Can I be tested even though I am eating gluten free? How long must gluten be taken for the serological tests to be meaningful? The Gluten-Free Diet 101 - A Beginner's Guide to Going Gluten-Free Is celiac inherited? Should my children be tested? Ten Facts About Celiac Disease Genetic Testing Is there a link between celiac and other autoimmune diseases? Celiac Disease Research: Associated Diseases and Disorders Is there a list of gluten foods to avoid? Unsafe Gluten-Free Food List (Unsafe Ingredients) Is there a list of gluten free foods? Safe Gluten-Free Food List (Safe Ingredients) Gluten-Free Alcoholic Beverages Distilled Spirits (Grain Alcohols) and Vinegar: Are they Gluten-Free? Where does gluten hide? Additional Things to Beware of to Maintain a 100% Gluten-Free Diet What if my doctor won't listen to me? An Open Letter to Skeptical Health Care Practitioners Gluten-Free recipes: Gluten-Free Recipes

Well, Results Of Genetic Testing In...
0

Rate this topic

26 posts in this topic

Recommended Posts

I had a nice meeting with my GI doctor a few weeks ago. I agreed to undergo the genetic testing (vitamin d was checked as well). I was hoping to be able to come back here and post about finally receiving validation via positive genetic testing. It all seemed to make sense. Multiple Sclerosis, osteoporosis, short stature, gum disease, vitamin deficiencies and most importantly, GI and stomach issues all run in both sides of my family. On top of that both sides of my family are very new to the U.S. Both come from Europe - Germany, Czech Republic and Sweden. However, I was informed yesterday that the genes (something about three? Nurse wasn't very knowledgable) they did test for, were/are absent. I will get my hands on the results just so that I can see with my own eyes... and I intend to find out which genes I DO have.

I was so hoping for some validation. I'm done fighting with these medical personnel. I'm done questioning my own body on the basis of these tests. I was so sure that it was true celiac. The results I've had... and all the people I've told about my "celiac" - I can't help but feel as though I've lied to them all (along with myself)! I should be happy, but I just wanted some validation, an answer.

I was diagnosed "probable celiac" and the genetic testing was to confirm (I have not spoken to my GI doctor since receiving the results - supposed to go back in the summer). It's so silly that I am upset about this, but I'm tired of searching for answers, and I'm tired of not being taken seriously.

Thank you all,

Laura

Share this post


Link to post
Share on other sites
Ads by Google:
Ads by Google:


The usual genes they test for are DQ2 and DQ8; there are, however, other genes recognized as celiac genes in Europe. Do you know if any of your relatives have had genetic testing? or even celiac testing?

In the meantime, I would continue to call myself 'celiac' to increase the chance of being taken seriously. No one can prove you are not.

  • Upvote 3

Share this post


Link to post
Share on other sites

There are more genes associated with celiac than just the ones for which they usually check. What tests were done that gave you the probable celiac diagnosis? If you are doing welll on the diet don't let the negative gene panel stop you from sticking with it. Your body's response is at present the best diagnosis we have.

  • Upvote 2

Share this post


Link to post
Share on other sites

I got diagnosed non celiac gluten intolerance, cannot rule out celiac. I am waiting for the genetic results, which I know have been dictated and are waiting to be typed and sent. Will I be disappointed if they are negative? Yes. Will it change being gluten-free? No. It explains too much. Plus they don't really understand ncgi yet.

I will continue to call myself celiac until.medical science science catches up and gives me a better explanation.

If anyone really wants to know I will say more, but I feel fine about where I am.

Good luck, go with your gut!

  • Upvote 3

Share this post


Link to post
Share on other sites

I was diagnosed probable Celiac because of my amazing results (and gluten symptoms)! All of my symptoms were classic celiac symptoms - my results post gluten-free indicate that I was not absorbing nutrients efficiently (or well) at all. It all just looked so much like celiac to the GI that he was willing to dx based on that. Amongst the conversation I didn't even go into the family history of AI diseases.

I don't know anything about most of my family. Most of my relatives are still living back in Europe...so I don't know whether any of them have been gene tested or tested for celiac.

Celiac Mindwarp - Thanks. May I ask where/how you are doing the genetic testing?

Share this post


Link to post
Share on other sites
Ads by Google:


what lab did your genetic testing? the Univ of Chicago's celiac center has a great website, including an e-book on the bottom of the home page. In one spot on their site, they recommended Prometheus Labs and the Mayo Clinic Lab. I think it was on the e-book they added a 3rd lab, but i don't remember the name. If you didn't use one of those, i would wonder about its accuracy.

Also, as someone mentioned, in Europe they test for 23 genes. In North America they test for 2 genes.

My results came back from Prometheus and it said i had the "Celiac Risk Genes Detected: DQ2.2 (HLA DQA and DQB) "and other non-risk alleles." But then they said that the DQ2 is a low-risk gene, and the report says "Celiac Disease unlikely. Does not preclude development of the disease." I don't have any doubt that i've got it - way too many symptoms and some of the antibodies. The celiac specialist that i've been seeing says that if you have the gene, you have it, that it doesn't matter where it is located.

i think you'll know better once you've seen the report. you might have gotten something like what i'm mentioning above, where their interpretation is added and the interpretation might be incorrect.

  • Upvote 1

Share this post


Link to post
Share on other sites

Ninja, I understand your disappointment! But you don't have to feel like you're lying to anyone. Whether you have celiac or NCGI, it's still a serious "disease" that can be very debilitating if not treated by going gluten-free.

Look at it this way: most people (including doctors) still don't have a clue about gluten intolerance. In some situations, like in restaurants, we may have to call it a "wheat allergy" so waiters get that they have to be careful. With others, we may have to call it celiac, so they'll get that it's a lifetime affliction. Other friends and relatives who are more knowledgeable might be able to hear the whole non-celiac gluten intolerance spiel and be able to grasp its gravity.

Bottom line is it's still a serious health matter and you have the right to expect others to take it seriously, too. Whatever it's called.

  • Upvote 2

Share this post


Link to post
Share on other sites


Ads by Google:


Ninja

I'm in the UK so had the test done via the GI on the NHS. Sadly here we just seem to get the same 2 genes tested as in the USA. Maybe I could have an excuse for a trip somewhere nice if my tests are negative. The advice on testing above looks good to me.

I am definitely in the crowd that says judge by response to gluten-free diet. It is worth being aware that many gluten-free replacement foods are as unhealthy as their gluten counterparts, and eating good unprocessed foods can make a world of difference.

Good luck :)

  • Upvote 2

Share this post


Link to post
Share on other sites

Thank you guys! :-) I hadn't thought about the mis-interpretation as a possible issue... this doctor's office has been known to do that (mostly because they don't know much about celiac disease at all). More reason for me to pursue further and pick up the actual results.

ACL laboratory was used? When I dropped the sheet off, the lady had to look up to see whether they actually offered/ran the gene test. I've been doing more reading and found that DQ7 is beginning to be considered a gene that is associated with celiac, but they do not test for it yet because it is not widely accepted? (DQ7 and DQ2,2 make the DQ2.5 I believe, but this study refereed to DQ7's contribution in individuals without DQ2 or DQ8 in the alpha or beta chain). I keep wanting to trust the doctors. :/

Share this post


Link to post
Share on other sites

Hiya Ninja

Got my genetic test results today, mine is negative too. I think that s good news?? No way I am going back to eating gluten now. The GI said may be IBS or non celiac gluten intolerance. I am with ncgi, but happy to describe it as celiac if it makes it easier.

So - you are definitely not alone :)

Share this post


Link to post
Share on other sites


Ads by Google:


CM - Like you said: cannot rule out celiac, because they can't! I've been doing more reading and testing for only 2 genes IS absurd. From what I know about my test results, they only looked for DQ2.5 and DQ8. I think I remember reading that your doctor did something similar? Are you going to ask for a copy of the results?

I also went through my blood work again and found a couple really strange phenomenons. Coincidentally, the changes occurred right around the same time I started having symptoms - they're also characteristic of an autoimmune disease. I can only hope that someday there will be better and more accurate testing, and better and more accurate doctors to go with. For now, celiac makes too much sense, yea?

Share this post


Link to post
Share on other sites

I am with you, I just have so many of the symptoms. I did a gluten challenge last year and it was awful, totally wiped me out, took 4 months to get over. I am trying to get my head round the genetic testing. I asked for full results, but didn't get them, think I will request in writing.

So, just hanging out waiting for medical science to catch us up. I am sure if there was money to be made from celiac and ncgi we would both have a diagnosis by now...

I guess we will see a bit of each other hanging out here then :)

Mw

  • Upvote 2

Share this post


Link to post
Share on other sites

I completely agree! If celiac meant taking 1 pill everyday I'm sure we'd have been diagnosed ages ago! Running the tests is easy, but diagnosing without them is the true test, IMO.

I wish it weren't so hard to fight for what we need amongst those who are supposed to fight with us. However, we can ban together and wait and wait and wait for the doctors to tell us that we were right all along (like you've mentioned). :)

I'm so sorry to hear about the gluten challenge. I guess if you weren't convinced, you are now. :ph34r:

  • Upvote 1

Share this post


Link to post
Share on other sites

Update: They tested for the "high-risk" alleles: HLA-DQA1*05, HLA-DQB1*02 and HLA-DQ*03:02 I translate this to mean that they tested for the alpha chain of DQ2.5, the beta chain of DQ2.5 and DQ2.2 and the alpha and beta chain of DQ8. Is this correct?

Share this post


Link to post
Share on other sites

i don't know the answer to your question, but am wondering if you were also checked for antibodies.

the whole thing of testing is very interesting. through an error, my blood sample was sent to Peace Health labs first, then the exact same blood sample was sent to Prometheus. The genetic testing was only through Prometheus. The antibodies were done by both - and the results do not match.

for example, the tTG test through Prometheus was 1.3u/ml, with a reference range of <10.3 U/ml. that would say a pretty clear negative.

the tTG test through Peace Health was 29, with <20 negative, 20-30 weak positive and >30 positive. That's so close to a definite positive, it would say positive.

how to explain it? it was the exact same blood draw sent to both places. I think it just says the testing is not the whole story. i'd go with your gut (little pun) and if you improve on a gluten-free diet, just stick with it.

Share this post


Link to post
Share on other sites


Ads by Google:


Thanks Madagascar! :) I was checked for antibodies twice. The first time I was gluten-light and the technician had A LOT of trouble getting enough blood. The results were all negative: DGP IGA and IGG were both at 2 (with <19 negative), iTG IGG and IGA were <2 (with <3 negative, 4-9 weak pos. >10 positive), EMA IGA was negative and my serum level was under 145 (with >60 normal). This time around (1 year gluten-free) I had DGP IGA: 5, DGP IGG: 4 (with <19 negative), and tTG IGA: 5, tTG IGG 4 (with <20 negative). Total serum was not run a second time.

The odd thing was... the first time I was tested I was on a nasal steroid twice daily (was on the steroid consistently for 10 years), along with daily anti-inflammatories. I have been able to stop both since gluten-free. Prior to the anti-inflammatories my sed. rate was 19 (<10 normal), after: 0.40 (<1 normal).

I am getting my genes tested again through enterolab because they report which genes you actually do have. We'll see...

Share this post


Link to post
Share on other sites

so curious that your antibodies were lower before you went gluten-free. i don't have any idea how to explain that.

re your nasal spray - i developed angioedema from Becanase, an allergy nasal spray. evil stuff for my body. my hands, feet and tongue would swell up horribly in a "rare" side effect to it. i thought it was going to kill me. apparently i was reacting to a preservative in it. Five years of suffering with that off and on until i finally connected the dots and saw it pointed to the Becanase. Stopped using it and haven't had it since - probably 5 years now without symptoms. Glad you were able to go off of yours.

  • Upvote 1

Share this post


Link to post
Share on other sites

I have no idea how to explain it either! I just wonder what the numbers would have been without the steroid (when I was gluten-light). Also, different labs... I had some weird results (for something else tested at the same time) from the lab that ran the celiac test the first time. I was also glutened recently (before the tests)... I don't know if that would affect anything. Maybe I'll ask them to rerun the tests when I go back in the summer...

Share this post


Link to post
Share on other sites

I'm a bit late to this game....

but here is what I think....

I was barely positive at 43 - so sick that I could no longer function. In hindsight == ALL of my health concerns over those four decades can be connected to the malabsorption connected with celiac disease. Had some doctor had the brilliant idea to run celiac antibody tests on me in my 20s or 30s I would have likely been negative and never gotten to the endoscopy stage -- although I was ALWAYS severely anemic.

Dietary response should be a major consideration in diagnosis - yet - sadly - it is often dismissed among our health professionals.

Hang in there - you know what your body is saying far better than any doctor.

  • Upvote 2

Share this post


Link to post
Share on other sites

I'm following along to see how this turns out. I had my f/u appt with my GI yesterday (1st f/u after the endoscopies). I asked for the genetic testing b/c I would like to know since there is no one else in my family who has been dx (I know, a common theme, it seems) and I would like to know for my son. She is fine with this. Interestingly enough, in the course of our conversation, I mentioned that if I don't have the genes, I don't have celiac, right? And, the GI paused, looked at me, and said, nope, she still would say I have celiac based off of my biopsy results (showed mild inflammation with a week of once a day gluten after being gluten free for 6 months) and my response to the gluten free diet. So, I guess now I wait and see. All of my serologies were negative b/c I was already gluten free when they drew them (long story).

  • Upvote 1

Share this post


Link to post
Share on other sites


Ads by Google:


Gottaski: I actually went back to look through my blood work from age 10 up. My WBC dropped (relatively slowly) around age 14/15 and stayed low from then on, sed. rate went up, and celiac symptoms started. I went gluten free when I was 17/18. I believe I had active celiac for 2ish years before testing was done. The kicker was that he was ready to diagnose me with celiac after he measured me and I had grown 2+ inches (as an adult) since the last time I saw him. Thank you! I don't know what I would do without this place...

mamamonkey: Wow! Sounds like you have an awesome doctor! It seems that rarely do the doctors test for all of the associated genes. For instance, the genetic testing done on me was very specific for only 3 alleles. Let me know the results of your gene testing/how you're doing! :)

Share this post


Link to post
Share on other sites

I have no idea how to explain it either! I just wonder what the numbers would have been without the steroid (when I was gluten-light). Also, different labs... I had some weird results (for something else tested at the same time) from the lab that ran the celiac test the first time. I was also glutened recently (before the tests)... I don't know if that would affect anything. Maybe I'll ask them to rerun the tests when I go back in the summer...

steroids suppress your immune system! therefore that testing was inaccurate...
  • Upvote 1

Share this post


Link to post
Share on other sites

I guess I will play the waiting game again with the gene test results from enterolab...

Thank you everyone for your ideas and support!

Share this post


Link to post
Share on other sites

Uh.... you're supposed to be more vulnerable to narcolepsy and multiple sclerosis ? :(  :blink:  :rolleyes:

 

Look at how this HLA DQB1 602 gene is distributed worldwide now, lots of Spanish, Siberians, Irish, Swedes, Danes, and ... Africans. It originates in Central Asia ?  http://en.wikipedia.org/wiki/HLA-DQ6    This is one of the reasons I haven't had mine done, I suspect with my heritage I'm going to get something odd. 

Share this post


Link to post
Share on other sites

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

0

  • Forum Statistics

    • Total Topics
      108,146
    • Total Posts
      939,919
  • Member Statistics

    • Total Members
      66,132
    • Most Online
      3,093

    Newest Member
    Whhyyy
    Joined
  • Popular Now

  • Topics

  • Posts

    • Yes I eliminated high glycemic foods. Eating only small amounts of carbs. No fruits, added sugars, starchy grains. Eating lots of fibrous veggies. Eating olive oil, as I don’t seem to tolerate the saturated fats or MCT oil. Allergic to nuts and seeds unfortunately.
    • Just wondering if you have an update at all? Going through the same thing at the the moment with my type 1 14 yr old. I would be interested to know what your gi said and how your daughters doing now? xx
    • Please check the date on post, you just responded and tried talking to a person from 7 years ago. On consideration to the subject Poatoes are a huge flare factor for my UC and cause my blood sugar to sky rocket...I am not even diabetic but for some reason potatoes (hash browns) that I tried a few months ago with some eggs shot it up over 400. not even a control test with table sugar managed that.
    • Have you tried eliminating high glycemic foods? Fruits, added sugars, starchy grains, potatoes. etc? Also adding in slow digesting fibers and fats can prevent insulin spikes, MCT oil is also known to help and protein. Many find consuming nuts and seeds higher in fiber early on in the meal or before a meal can slow down insulin responses and prevent spikes. I always tend to eat a hand full of whole shell pumpkin seeds, hemp seeds, cocoa nibs, etc. while fixing my food, this gets me starting to feel fuller sooner, and seems to help in over all down the road. I know I had some references somewhere to these. I know I read somewhere about the antioxidants in in whole shell seeds like pumpkin and hemp also helped the body regulate insulin levels.
    • Dear AWOL Cast Iron Stomach, Your husband is right bread is bad for you. Of course it's more than bread and gluten, until now it was amateur hour trying to self diagnose and tame this "lion". However they let you down. You slipped through the cracks over and over again it is not your fault your not the Dr. You made mistakes and errors acting like a celiac , not knowing for sure you were, and not feeling like you could fully claim to be or reach out for support . Now you know your husband was closer than any Dr. up until now to determine your illness. Now something is in your record, now hopefully you will be dismissed less,respected more, maybe they will realize its an actual condition going on- not all in your head. Will they? Who knows! Do you care? This is now official, now explained, you not only have to give up gluten, but milk, and corn. In fact give up 98% of processed anything. The cluster of lifetime symptoms were not  "just you", "in your head", "you are not a difficult patient", "when the Dr or nurse looks at you like a nut job you don't have to feel the dismissiveness and condescension. It's an illness and nothing to be shameful of  what is shameful is they and their colleagues missed you failed you. In fact being missed for 4 decades is unjust to you. You were missed time and time again from age 5 to 43, decade after decade after decade, symptom after symptom. It's not that you didn't try from the 5 year old begging to go to the Dr, to the 20 going to the hospital again for another bout of gastroenteritis hoping to get an IV, to the thirty year old saying something is wrong why is this happening, to the forty something a restaurant fed me gluten when I asked for gluten-free, I have been gluten free for 3 1/2 years ,  I have more symptoms and pain than before . I felt so good for those gluten-free years- please help me-make it stop. So many things explained it makes you experience a range of emotions. Grateful: Relief and gratefulness someone finally agreed to send you to someone to test you. She saw past the other diagnosis' and the albatross IBS diagnosis. All the ages and stages of symptoms are explained they all fit. Everyone of them! Someone else also has had them. You are not alone. Read the forum-you fit like a glove. Anger: Anger for the way you have been treated by the medical community, family, some ex boyfriends, friends and coworkers. Anger for the length of time you endured this. Hurt: Hurt for the times people said unkind things to you when you were symptomatic or flaring . you are experiencing symptoms that change your body people are rude to congratulate you on a "pregnancy" you didn't announce or ask why you are not slim when you hardly eat. you are not over emotional -  you are suffering from neuro symptoms, you are not making this up for attention Sad & Guilty: Can I work again? Do I want to work again? What kind of work can I do now? Can I find a job and work PT from home? You didn't envision this your husband having to be sole bread winner now what? I am overwhelmed thinking about this-stop? You now have closure and know how and why you lost your first pregnancy. You now know why you were high risk, complications,  with your children in Pregnancy & Delivery that they couldn't be explained back then It explains why in pregnancy you lost weight and why your morning sickness was extreme and seemed to last longer than anyone you knew,  that your Puppp rash was likely misdiagnosed DH It is not your fault none of it. Please forgive yourself for what you did not know. Your children forgive you. Believe them when they say its not your fault. You can cry, but you can no longer blame yourself. You are a good mother just one with an illness your children will learn to accept. Withdrawn: Why are you withdrawing from your husband? Should you ask him if he wants a divorce? Should you push him away? You didn't know before marriage what was happening you knew something autoimmune was brewing shortly after, but nothing showed on tests. Was this unfair to do to him? Doesn't he deserve someone better? Someone well? Now you can't retire and travel the world as society retirement cliché dictates. Can you afford this illness ? How will this financially impact your spouse, your family?. Why did you do this to this poor man? You are so selfish, you wanted marriage and kids, but was this fair to them? Don't your kids deserve a healthier mom? How will this impact them? Oh my gosh are they going to get this too? Will they grow to resent you? Your illness and diet has taken over their lives! Oh gosh no one say hi to me-please. I hate people and I am too sick to pretend and be fake friendly today. I don't want to tell you I am ill. I don't want to talk about this. I have to absorb this. I hate you people for being healthy. Don't tell me I don't look well. I will snap, I don't want to snap, I am irritable ,and don't feel well. Just keep giving off the unapproachable vibe keep them away.  Am I strong enough to do this? Acceptance: Calm down the inflammation, lack of nutrients, and GI damage is messing with your head. Your husband said for better for worse. Your kids have no choice you are their mother and you are a good mom -you have always been, always will be even on your worst day. If they get this they will be ok. You are strong enough to do this you are just ill and most importantly you must remain here in case they get this so you can guide them and be there for them. Got it? Go on the forum you are not alone it will be ok. You will get this lion back in the cage and manage it. It will be ok. If you can't travel in retirement one day you will find other hobbies or things to occupy your time. He's not going to leave you over this. If he does it will be ok. You'll manage-you always do. You have an answer, you knew it was coming, keep reading, learning, seeking support, and one day it will all work out. You will process all this and will be at peace-until then keep going and above all AVOID GLUTEN!    
  • Upcoming Events