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

Has Anyone Been Through Genetic Screening?


sandyg

Recommended Posts

sandyg Newbie

Hi There,

I'm a mother of three (ages 5, 3, & 2) and was just diagnoses with celiac last month. My 5 and 3 year old had blood tests, which thankfully came back negative. The pediatric GI doc would not screen the 2 year old. He said there is a risk for false negatives in kids under 3. Anyway, he told me to plan on having their blood drawn again in 3 years.

So, my question is. . . do my children have to be screened every 3 years forever? At what point do they run genetic tests? I understand a positive gene test doesn't necessarily mean that they will develop celiac. However, a negative gene test would let them off the hook for this every 3 year test. Does anyone have any experience with genetic testing before I ask the doctor.

Thanks in advance for your help!

Sandy :)


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



Celiac.com Sponsor (A8-M):



ericamricard Newbie

I am new to all of this but my 23 month old was just diagnosed with celiac this month. She has her blood work done and it was off the chart postive and will be going for a biopsy in 5 days. I was not told she would have to be tested again. Now she will be having blood work done because she has a Anemia disorder . I think I spelled that right?? Hope this helped. Also have a GI biopsy that will give the closest 100% yes or no to celiac!!

Erica

Juliet Newbie

The gene test can be done with three different labs. Kimball Genetics and Enterolab both do a gene test using a swab. We went with Enterolab ourselves because it was so non-invasive for our little one, and it was cheaper, but it took two weeks to get the result. Kimball Genetics has a faster response time (24 hours within receiving specimen). Prometheus also offers the gene test via a blood test. It also very accurately can test for the subtypes of your genes. And yes, if your child tests negative for the gene, most likely they will never develop Celiac Disease, although food intolerances, including gluten intolerance, could still happen (not that I'm trying to tempt fate for you at all; just letting you know that if you ever see a problem that is Celiac-like and your child does not have the gene, a food intolerance could still be the culprit).

The follow up tests your doctor is talking about is pretty standard. If your children have the gene, you should do follow up testing regularly to ever see if they are starting to react to gluten. Yes, having the gene does not mean you will get the disease, but since there's a family history, it's more likely than if there isn't the history. And some doctors would even argue that the blood screening test (not the gene test) is inaccurate for kids under 7. And if their diet is "gluten-light" because you're feeding them that way (this is what happened to us because we were feeding our kids gluten free so we were by default, too) the test would be inaccurate as well. So your child could have the disease and even react very negatively to gluten but not test positive because there isn't enough "damage" and antibodies to register.

And often after being diagnosed with Celiac Disease, they want to regularly do the blood screening test to make sure your antibodies levels remain low. If they are high at all, it could mean your getting gluen somewhere and therefore still damaging your intestine. If you're not, this could be an indication of another problem occuring.

Hope that helps!

sandyg Newbie
The gene test can be done with three different labs. Kimball Genetics and Enterolab both do a gene test using a swab. We went with Enterolab ourselves because it was so non-invasive for our little one, and it was cheaper, but it took two weeks to get the result. Kimball Genetics has a faster response time (24 hours within receiving specimen). Prometheus also offers the gene test via a blood test. It also very accurately can test for the subtypes of your genes. And yes, if your child tests negative for the gene, most likely they will never develop Celiac Disease, although food intolerances, including gluten intolerance, could still happen (not that I'm trying to tempt fate for you at all; just letting you know that if you ever see a problem that is Celiac-like and your child does not have the gene, a food intolerance could still be the culprit).

The follow up tests your doctor is talking about is pretty standard. If your children have the gene, you should do follow up testing regularly to ever see if they are starting to react to gluten. Yes, having the gene does not mean you will get the disease, but since there's a family history, it's more likely than if there isn't the history. And some doctors would even argue that the blood screening test (not the gene test) is inaccurate for kids under 7. And if their diet is "gluten-light" because you're feeding them that way (this is what happened to us because we were feeding our kids gluten free so we were by default, too) the test would be inaccurate as well. So your child could have the disease and even react very negatively to gluten but not test positive because there isn't enough "damage" and antibodies to register.

And often after being diagnosed with Celiac Disease, they want to regularly do the blood screening test to make sure your antibodies levels remain low. If they are high at all, it could mean your getting gluen somewhere and therefore still damaging your intestine. If you're not, this could be an indication of another problem occuring.

Hope that helps!

That's the best explanation I've had from anybody! Thanks for the info. I will definitely have to check out the labs you mentioned.

Sandy

gfpaperdoll Rookie

Just because your children tested negative via blood test does not mean that they do not have a gluten problem. You can have total villi damage & still have a negative blood test.

I suggest the gene test thru Enterolab.com because they test for the celiac genes & the gluten intolerant genes. IMO the gluten intolerant genes are the worst, especially if you have double DQ1 because they come with the other food intolerances, allergies, neurological problems AND the common celiac symptoms, including villi damage. Not all positive biopsy people have DQ2 or DQ8.

And you do not NEED a biopsy if you have positive blood work. But if you want one..

there again better to test kids (& adults) thru Enterolab.com, it is not invasive & way more accurate & you can tell if you are absorbing foods etc. & they also test for a dairy problem which is common.

crittermom Enthusiast

My daughter was tested positive via blood tests and biopsy a little over 1 year ago. When she tested positive we tested my son. His blood tests were negative but at the GI suggestion we had a gene test done. His came back positive. As stated earlier, the GI told me that this means he carries the gene but may never develop celiac. However, she also told me that if his sister has it and he is positive for the gene, the likelihood is high and that I should "keep a close eye on him for any changes or trends". I have done that and in the past 9 weeks I have seen a huge change in him and some tendencies that Katharine demonstrated as well. We have an appointment with the GI in 2 weeks to have him checked out. I had blood tests done at the ped a few weeks ago that came back negative however the GI felt that it was warranted for a full check up. I believe they are waiting so they can do another blood test to see if there is an upward movement in antibodies. Anyway without the gene test I may not have the ability to push the issue with the doctors.

Archived

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

  • Get Celiac.com Updates:
    Support Celiac.com:
    Donate

  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):





    Celiac.com Sponsors (A17-M):




  • Recent Activity

    1. - trents replied to barb simkin's topic in Related Issues & Disorders
      8

      celiac, chocolate and alcohol

    2. - barb simkin replied to barb simkin's topic in Related Issues & Disorders
      8

      celiac, chocolate and alcohol

    3. - trents replied to barb simkin's topic in Related Issues & Disorders
      8

      celiac, chocolate and alcohol

    4. - barb simkin replied to barb simkin's topic in Related Issues & Disorders
      8

      celiac, chocolate and alcohol


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,331
    • Most Online (within 30 mins)
      7,748

    SEQ
    Newest Member
    SEQ
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):




  • Who's Online (See full list)


  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • trents
      So, you had both and endoscopy with biopsy and a colonoscopy. That helps me understand what you were trying to communicate. No, no! It never occurred to me that you were trying to mislead me. It's just that we get a lot of posters on the forum who are misinformed about what celiac disease is and how it is diagnosed so I need some clarification from you which you were so gracious to give.
    • barb simkin
      I had both the genetic genes for celiac.  My gastroenologist advised he also took a biopsy during one of my colonoscopies and endoscopy and advised I had celiac disease, along with stomach ulcers from my esophagus stomach down to my small bowel. I was shown the ulcers on the catscan and endoscopy report.  I also had polyps in 3 places throughout my large bowel. I was on a strict diet for months following.  I am sorry if I didnt define how I was diagnosed with celiac disease.  I am sorry if you think I was misleading you. I also had to pay $150.00 for the genetic testing.
    • trents
      So, I'm a little confused here. I understand you to say that you have not been officially diagnosed with celiac disease. Is this correct?  You have had genetic testing done to check for the potential for developing celiac disease and that was positive. Is this correct? I think you meant to type "gluten sensitivity" but you typed "gluten insensitivity". Just so we are clear about the terminology, there is celiac disease and there is NCGS (Non Celiac Gluten Sensitivity). They are not the same but they have overlapping symptoms. Celiac disease causes damage to the small bowel lining but NCGS does not. NCGS is often referred to in short form as gluten sensitivity. However, people often use the terms celiac disease and gluten sensitivity interchangeably so it can be unclear which disease they are referring to. Genetic testing cannot be used to diagnose celiac disease but it can be used to establish the potential to develop active celiac disease. About 40% of the general population has one or both of  the genes that have been most strongly connected with the potential to develop active celiac disease but only about 1% of the population actually develops active celiac disease. This makes the genetic test useful for ruling out celiac disease but not for diagnosing it. A colonoscopy cannot be used to diagnose celiac disease because it doesn't permit the scope to go up into the small bowel where celiac disease does the damage. They use an endoscopy ("upper GI) for checking the small bowel lining for celiac damage.
    • barb simkin
      I did nor read the chocolate pkg as it was of fered to me and I ate 2 pcs. I do know that only very dark chocolate and and a very few others are gluten free. Most alcohols contain gluten. I have several yrs of not knowing my celiac condition as docs would not do the test. After looking on the internet about my sufferings I insisted on the gene trsting which showed positive for gluten insensitivity and a biopsy on my next colonoscopy that also showed positive which could not help the damage done to my small bowel. So I very rarely have a glass of wine
    • trents
      @barb simkin, are you sure the chocolate products are gluten-free and not "manufactured on equipment that also handles wheat products and tree nuts", i.e., cross-contamination? And what kind of alcoholic beverages are we talking about? Most beers are made from gluten-containing grains. Just checking.
×
×
  • Create New...