Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×

  • 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

lc1333

Recommended Posts

lc1333 Apprentice
lc1333
Posted

Hello all,

 

So in 2011 I was tested for antibodies for celiac.  Everything came out negative, but my doc did a biopsy anyway.  That came back way positive.  Then I went gluten free in Jan of 2012, and pretty much every symptom/bad thing/illness/problem I had completely went away!  My doc then diagnosed me with celiac.  Now, recently my sister did one of those gene coding things with my mom and my mom has the celiac gene, HLA DQ2.  So do y'all think it's logical that I have that gene too?  If so, why didn't I have antibodies?  My doc said (and no, I don't have too much faith in her), that if I didn't have antibodies there was no way possible to have the gene, but it looks like I probably do have the gene, but why then no antibodies.  She tested me twice for everything (I think).

 

Thanks,

Linda

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

Celiac.com Sponsor (A8-M):


GottaSki Mentor
GottaSki
Posted

Hello all,

So in 2011 I was tested for antibodies for celiac. Everything came out negative, but my doc did a biopsy anyway. That came back way positive. Then I went gluten free in Jan of 2012, and pretty much every symptom/bad thing/illness/problem I had completely went away! My doc then diagnosed me with celiac. Now, recently my sister did one of those gene coding things with my mom and my mom has the celiac gene, HLA DQ2. So do y'all think it's logical that I have that gene too? If so, why didn't I have antibodies? My doc said (and no, I don't have too much faith in her), that if I didn't have antibodies there was no way possible to have the gene, but it looks like I probably do have the gene, but why then no antibodies. She tested me twice for everything (I think).

Thanks,

Linda

Hi Linda!

The antibody tests are not perfect. Do you know which celiac antibody tests were run?

You likely inherited the celiac gene from your mother...but the positive biopsy with complete resolution of symptoms after removing gluten is celiac disease.

Edited to add: I would request written copies of your past testing and all future testing.

CajunChic Explorer
CajunChic
Posted

I'm DQ2 positive with negative blood work. My dr said it was seronegative celiac.

kareng Grand Master
kareng
Posted

Having a gene for Celiac does not mean you have Celiac.  But, without the Celiac gene, you likely don't have Celiac.

 

"Genetics don’t diagnose celiac disease. They do, however, clarify whether an individual is “at-risk” for it. If this is the case, you should closely monitor your symptoms and submit to blood tests every 2-3 years or immediately upon the sight of symptoms. When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to 1/3 of the U.S. population has the genes for celiac disease. Meaning, those who have the DQ2 or DQ8 gene can develop celiac disease at any time, but only about 5% of those people actually will."

 

Open Original Shared Link

CajunChic Explorer
CajunChic
Posted

Having a gene for Celiac does not mean you have Celiac.  But, without the Celiac gene, you likely don't have Celiac.

 

"Genetics don’t diagnose celiac disease. They do, however, clarify whether an individual is “at-risk” for it. If this is the case, you should closely monitor your symptoms and submit to blood tests every 2-3 years or immediately upon the sight of symptoms. When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to 1/3 of the U.S. population has the genes for celiac disease. Meaning, those who have the DQ2 or DQ8 gene can develop celiac disease at any time, but only about 5% of those people actually will."

 

Open Original Shared Link

We're very aware of this. It was biopsy and resolution of symptoms on the diet that preempted the dx.

kareng Grand Master
kareng
Posted

We're very aware of this. It was biopsy and resolution of symptoms on the diet that preempted the dx.

 

 

Sorry.  I didn't know the OP was aware of this.  I wasn't quite sure exactly what she was asking so I thought she might like a little info on the genetics of Celiac.  I don't think it hurt anything to put it here.  Maybe someone else reading won't know and would like the link?

CajunChic Explorer
CajunChic
Posted

Sorry.  I didn't know the OP was aware of this.  I wasn't quite sure exactly what she was asking so I thought she might like a little info on the genetics of Celiac.  I don't think it hurt anything to put it here.  Maybe someone else reading won't know and would like the link?

I also apologize, I thought the post was questioning the dx. Thanks for the extra info : )

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

Celiac.com Sponsor (A8-M):


kareng Grand Master
kareng
Posted

This is for Linda - but anyone else may read it,too.   :D

 

 

"Is it possible to have a negative blood test, but a positive biopsy?

While rare, it is possible to have a negative blood test and still have celiac disease. tTG sensitivity is approximately 98%, which means that 2% of all celiacs may have a normal tTG level. Sometimes tTG antibodies are not produced enough to show up in the blood stream and can only be detected in the intestinal mucosa by special means.

IgA deficiency is a reason why you might have a negative blood test, but a positive biopsy."

 

Open Original Shared Link

GottaSki Mentor
GottaSki
Posted

This is for Linda - but anyone else may read it,too.   :D

 

 

"Is it possible to have a negative blood test, but a positive biopsy?

While rare, it is possible to have a negative blood test and still have celiac disease. tTG sensitivity is approximately 98%, which means that 2% of all celiacs may have a normal tTG level. Sometimes tTG antibodies are not produced enough to show up in the blood stream and can only be detected in the intestinal mucosa by special means.

IgA deficiency is a reason why you might have a negative blood test, but a positive biopsy."

 

Open Original Shared Link

I read too :)

This is why I suggested getting written copies of your prior tests. Not many doctors....especially primaries....run a complete celiac antibody panel with total serum IgA .... Thus making an imperfect system much less accurate.

RMJ Mentor
RMJ
Posted

 Now, recently my sister did one of those gene coding things with my mom and my mom has the celiac gene, HLA DQ2.  So do y'all think it's logical that I have that gene too?

 

Thanks,

Linda

Do you know if your mother had one or two copies of HLA DQ2? if she had two copies, you have to have at least one copy (and one is enough for Celiac).

lc1333 Apprentice
lc1333
Posted
  • Author

Thank you all for the responses.  I don't know if my mother has one copy or two.  I also had a very positive biopsy and complete resolution of symptoms which is why my doc diagnosed celiac.  Oh, and that was a couple of years ago.  I just found out about the gene thing the other day.  The other thing that concerns me is that I have four children who also tested negative blood work wise.  They have not been biopsied, but my daughter had a ton of symptoms that resolved after she went gluten free.  In fact, she feels so much better that she said she will never do a gluten challenge for a biopsy, so she will never be officially diagnosed.  Unfortunately, one of my boys has some symptoms, but they aren't intestinal (like a lot of mine were), so he won't go gluten free even if it he were told to.  I'm kinda considering getting my kids gene tested, but I really don't know if it's necessary...

nora-n Rookie
nora-n
Posted

I have seen other numbers, like 20% are Ttg negative when there is total villous atrophy and 40% are negative on Ttg  when there is patchy celiac (the most common form nowadays)

 

The antibodies are made locally in the intestine, and just a little spills over into the blood, and the amount can vary a lot. Additionally, there is a rather high cutoff because they want to avoid sending people to biopsies that do not have enough villi damage to get a diagnosis....

 

(The latter with the 40% I ran across in some articles about the then new DGP test, which is designed to find celiac when there is patchy celiac, and early celiac)

 

Nora

lc1333 Apprentice
lc1333
Posted
  • Author

So, I'm gonna request my test results from my doc, I'm really curious now...

 

Thank you all for your input, it's been really helpful!!!!   :D

Archived

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

Go to topic listing
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      131,171
    • Most Online (within 30 mins)
      7,748
    kyle68j
    Newest Member
    kyle68j
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • DAR girl
      Celiac and allergic to common subs and adds in prepared foods

      By DAR girl · Posted

      Looking for help sourcing gluten-free products that do not contain potato or corn derived ingredients. I have other autoimmune conditions (Psoriatic Arthritis and Sjogrens) so I’m looking for prepared foods as I have fatigue and cannot devote a lot of time to baking my own treats. 
    • Scott Adams
      Disregarded

      By Scott Adams · Posted

      I am so sorry you're going through this. It's completely understandable to feel frustrated, stressed, and disregarded after such a long and difficult health journey. It's exhausting to constantly advocate for yourself, especially when you're dealing with so many symptoms and positive diagnoses like SIBO, while still feeling unwell. The fact that you have been diligently following the diet without relief is a clear sign that something else is going on, and your doctors should be investigating other causes or complications, not dismissing your very real suffering. 
    • Oldturdle
      Paying for my own Celiac screening at WalkInLab so a positive result doesn’t become part of my medical history

      By Oldturdle · Posted

      It is just so sad that health care in the United States has come to this.  Health insurance should be available to everyone, not just the healthy or the rich.  My heart goes out to you.  I would not hesitate to have the test and pay for it myself.  My big concern would be how you could keep the results truly private.  I am sure that ultimately, you could not.  A.I. is getting more and more pervasive, and all data is available somewhere.  I don't know if you could give a fake name, or pay for your test with cash.  I certainly would not disclose any positive results on a private insurance application.  As I understand it, for an official diagnosis, an MD needs to review your labs and make the call.  If you end up in the ER, or some other situation, just request a gluten free diet, and say it is because you feel better when you don't eat gluten.      Hang in there, though.  Medicare is not that far away for you, and it will remove a lot of stress from your health care concerns.  You will even be able to "come out of the closet" about being Celiac!
    • plumbago
      Paying for my own Celiac screening at WalkInLab so a positive result doesn’t become part of my medical history

      By plumbago · Posted

      Yes, I've posted a few times about two companies: Request a Test and Ulta Labs. Also, pretty much we can all request any test we want (with the possible exception of the N protein Covid test and I'm sure a couple of others) with Lab Corp (or Pixel by Lab Corp) and Quest. I much prefer Lab Corp for their professionalism, ease of service and having it together administratively, at least in DC. And just so you know, Request a Test uses Lab Corp and Quest anyway, while Ulta Labs uses only Quest. Ulta Labs is cheaper than Request a Test, but I am tired of dealing with Quest, so I don't use them so much.
    • Scott Adams
      Does Dailymed.nlm.nih.gov site have filters for gluten?

      By Scott Adams · Posted

      PS - I think you meant this site, but I don't believe it has been updated in years: http://glutenfreedrugs.com/ so it is best to use: You can search this site for prescriptions medications, but will need to know the manufacturer/maker if there is more than one, especially if you use a generic version of the medication: To see the ingredients you will need to click on the correct version of the medication and maker in the results, then scroll down to "Ingredients and Appearance" and click it, and then look at "Inactive Ingredients," as any gluten ingredients would likely appear there, rather than in the Active Ingredients area. https://dailymed.nlm.nih.gov/dailymed/   
×
×
  • Create New...