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

Genetic Testing

ashase

Recommended Posts

ashase Newbie
ashase
Posted

Just wondering if anyone else had had the genetic testing for Celiac? I did and received my results--positive for both markers....so I guess it's official now. Well at least the docs won't think it is all in my head anymore....

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

Celiac.com Sponsor (A8-M):


Alexolua Explorer
Alexolua
Posted

How'd you get your testing done? I went through Enterolab.

Gene Test for Gluten Sensitivity

Molecular analysis:  HLA-DQB1*0602, 0301

Serologic equivalent:  HLA-DQ 1,3  (Subtype 6,7)

My results, LOL.

gf4life Enthusiast
gf4life
Posted

ashase,

I also had myself and my children tested through Enterolab. Here are our results:

Me (32 year old female):

Gene Test for Gluten Sensitivity

Molecular analysis: HLA-DQB1*0201, 0301

Serologic equivalent: HLA-DQ 2,3 (Subtype 2,7)

HLA gene analysis reveals that you have the main gene that predisposes to gluten sensitivity and celiac sprue (HLA-DQ2). This genotype also can predispose to microscopic colitis and other autoimmune syndromes.

My 9 year old son:

Gene Test for Gluten Sensitivity

Molecular analysis: HLA-DQB1*0301, 0301

Serologic equivalent: HLA-DQ 3,3 (Subtype, 7,7)

Although you do not possess the main genes predisposing to celiac sprue (HLA-DQ2 or HLA-DQ3, subtype 8), HLA gene analysis reveals that you have two copies of a gene (HLA-DQ3 subtype 7) that predisposes to gluten sensitivity.

My 8 year old son:

Gene Test for Gluten Sensitivity

Molecular analysis: HLA-DQB1*0502, 0301

Serologic equivalent: HLA-DQ 1,3 (Subtype 5,7)

HLA gene analysis reveals that you have a genotype that predisposes to gluten sensitivity (HLA-DQ1, 3 especially that involving DQB1* 0301). This genotype also can predispose to microscopic colitis and other autoimmune syndromes.

My 5 year old daughter:

Gene Test for Gluten Sensitivity

Molecular analysis: HLA-DQB1*0201, 0301

Serologic equivalent: HLA-DQ 2,3 (Subtype 2,7)

HLA gene analysis reveals that you have the main gene that predisposes to gluten sensitivity and celiac sprue (HLA-DQ2). This genotype also can predispose to microscopic colitis and other autoimmune syndromes.

Based on our results I have to assume (since he won't get tested) that my husband would carry HLA-DQ 1,3 (Subtype 5,7) since that would be the only combo that would result in the mix of genetics that we have going. I would like to get him tested to confirm this, since he won't currently go on the diet. He eats gluten-free when he eats with us at family dinners, but he works through dinner 5 nights a week and so that means he is only getting a few gluten-free meals a week. He does also have symptoms, but is in denial that he is sick. He just thinks that he is getting old, and that is why he is having more health issues. 36 is NOT old!! He is physically fit, but his insides are falling apart!

Currently the only two genes that are being called Celiac Markers are the DQ2 & DQ8(or is it DQ3 subtype 8?). Anyhow, there may come a day when these other gluten intolerance genes are also recognised as Celiac markers. My middle boy has a lot of health issues and sees a lot of specialists in different areas. His Rheumatologist/Immunologist is not ruling out Celiac in him, since he has so many of the symptoms and those symptoms improve so dramatically when he is gluten-free that it can hardly be ignored. This doctor (Dr. Wright at Central California Children's Hospital) says that there has not been enough research on celiac disease and genetics to show that they have isolated ALL of the genes responsible for the disease. My son also has a rare varient of Familial Meditteranean Fever (for which they have not isolated all of those genes yet either!). We are just a little bit ahead of the researchers. Maybe someday they will catch up to us and realise that gluten free is best for almost all of the global population!! That might just be wishful thinking. I'd bet the government here would have to keep it quiet since wheat is such a big commodity in the USA. Maybe we should just turn all those wheat fields into rice paddies! :D

I hope this helps with your personal genetics research.

God bless,

Mariann

ashase Newbie
ashase
Posted
  • Author

My Dr. a gastroentrologist that specializes in Celiac ordered the test through prometheus labs (in CA I think) It was a blood test. I came back positive for DQ2 & DQ8. Why did you go through enterolab and not through youor doc? just curious...

Thanks for all of the info. I am mgoing to have my kids tested...I am scared to death I gave it to them :(

Alexolua Explorer
Alexolua
Posted
Why did you go through enterolab and not through youor doc?

Because unfortunately, my doctor isn't a Celiac specialist. Though he did mention he heard of genetic testing done by a group in CA, when I showed him enterolabs' results. So guess he knows a little, lol.

gf4life Enthusiast
gf4life
Posted

My insurance wouldn't pay for Promethius labs for my kids when they were ordered by the pediatric GI and they cost $750 for the gene test (which has to be done with the antibody blood tests and automatically is performed if the antibody tests are negative). It costs about $150 at Enterolab ($350 for complete stool/gene panel), and is performed at a top genetics lab in Colorado called Laboratories at Bonfils, so I was confident with the accuracy of the results. I am also glad I went through Enterolab since they also check for the lesser genes that cause non-celiac gluten intolerance. Two of my kids don't carry either of the two celiac genes, yet they are gluten intolerant. Promethius tests will miss those people who are gluten intolerant but not Celiac.

My GI doctor would not order the gene test for me. She doesn't think I have a problem with gluten, she still thinks it's IBS. I suffered for over 25 years and was not willing to go to yet another doctor and keep trying to get a diagnosis. I had already done a gluten free diet trial and the results were so dramatic that I just needed confirmation of what I already knew. That is when I did Enterolab for myself last October. I then went and got my kids blood tested and referred to a GI when they all came back positive on Gliadin IgG only. The GI wanted to do the Promethius tests since he trusts that lab, but the insurance wouldn't approve it. $750 x 3 was just too much to pay, so we chose to go with Enterolab. We had the complete stool and gene panel done on all three for around $1000, and found all three of them are gluten intolerant and casein intolerant. They are all doing so well on the diet that their GI wants to keep them on the diet and moniter their progress, even though they currently do not have a diagnosis of Celiac. Not a problem with me. The kids are so much healthier now, and that is all that I care about.

God bless,

Mariann :)

ashase Newbie
ashase
Posted
  • Author

Why don't docs trust enterolab? Was the gene testing done with a blood orcheek sample?

Thanks,

Jessica

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

Celiac.com Sponsor (A8-M):


Alexolua Explorer
Alexolua
Posted

Cheek sample.

I can't speak for all doctors. Mine had just never heard of Enterolab, so doesn't agree with his testing. Doctor Fine (at Enterolab) said he was working on a study to be published, which I'd hope would then give something for doctors to read about his work.

Archived

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

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


  • Member Statistics

    • Total Members
      131,900
    • Most Online (within 30 mins)
      7,748
    tessycork47
    Newest Member
    tessycork47
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

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



  • Celiac.com Sponsor (A21):


  • Who's Online (See full list)

    • There are no registered users currently online

  • Upcoming Events

  • Posts

    • trents
      New (possible) celiac diagnosis

      By trents · Posted

      Welcome to the forum, @Judy M! Yes, he definitely needs to continue eating gluten until the day of the endoscopy. Not sure why the GI doc advised otherwise but it was a bum steer.  Celiac disease has a genetic component but also an "epigenetic" component. Let me explain. There are two main genes that have been identified as providing the "potential" to develop "active" celiac disease. We know them as HLA-DQ 2.5 (aka, HLA-DQ 2) and HLA-DQ8. Without one or both of these genes it is highly unlikely that a person will develop celiac disease at some point in their life. About 40% of the general population carry one or both of these two genes but only about 1% of the population develops active celiac disease. Thus, possessing the genetic potential for celiac disease is far less than deterministic. Most who have the potential never develop the disease. In order for the potential to develop celiac disease to turn into active celiac disease, some triggering stress event or events must "turn on" the latent genes. This triggering stress event can be a viral infection, some other medical event, or even prolonged psychological/emotional trauma. This part of the equation is difficult to quantify but this is the epigenetic dimension of the disease. Epigenetics has to do with the influence that environmental factors and things not coded into the DNA itself have to do in "turning on" susceptible genes. And this is why celiac disease can develop at any stage of life. Celiac disease is an autoimmune condition (not a food allergy) that causes inflammation in the lining of the small bowel. The ingestion of gluten causes the body to attack the cells of this lining which, over time, damages and destroys them, impairing the body's ability to absorb nutrients since this is the part of the intestinal track responsible for nutrient absorption and also causing numerous other food sensitivities such as dairy/lactose intolerance. There is another gluten-related disorder known as NCGS (Non Celiac Gluten Sensitivity or just, "gluten sensitivity") that is not autoimmune in nature and which does not damage the small bowel lining. However, NCGS shares many of the same symptoms with celiac disease such as gas, bloating, and diarrhea. It is also much more common than celiac disease. There is no test for NCGS so, because they share common symptoms, celiac disease must first be ruled out through formal testing for celiac disease. This is where your husband is right now. It should also be said that some experts believe NCGS can transition into celiac disease. I hope this helps.
    • Judy M
      New (possible) celiac diagnosis

      By Judy M · Posted

      My husband has had lactose intolerance for his entire life (he's 68 yo).  So, he's used to gastro issues. But for the past year he's been experiencing bouts of diarrhea that last for hours.  He finally went to his gastroenterologist ... several blood tests ruled out other maladies, but his celiac results are suspect.  He is scheduled for an endoscopy and colonoscopy in 2 weeks.  He was told to eat "gluten free" until the tests!!!  I, and he know nothing about this "diet" much less how to navigate his in daily life!! The more I read, the more my head is spinning.  So I guess I have 2 questions.  First, I read on this website that prior to testing, eat gluten so as not to compromise the testing!  Is that true? His primary care doctor told him to eat gluten free prior to testing!  I'm so confused.  Second, I read that celiac disease is genetic or caused by other ways such as surgery.  No family history but Gall bladder removal 7 years ago, maybe?  But how in God's name does something like this crop up and now is so awful he can't go a day without worrying.  He still works in Manhattan and considers himself lucky if he gets there without incident!  Advice from those who know would be appreciated!!!!!!!!!!!!
    • Scott Adams
      Patiently Waiting to See Results

      By Scott Adams · Posted

      You've done an excellent job of meticulously tracking the rash's unpredictable behavior, from its symmetrical spread and stubborn scabbing to the potential triggers you've identified, like the asthma medication and dietary changes. It's particularly telling that the rash seems to flare with wheat consumption, even though your initial blood test was negative—as you've noted, being off wheat before a test can sometimes lead to a false negative, and your description of the other symptoms—joint pain, brain fog, stomach issues—is very compelling. The symmetry of the rash is a crucial detail that often points toward an internal cause, such as an autoimmune response or a systemic reaction, rather than just an external irritant like a plant or mites. I hope your doctor tomorrow takes the time to listen carefully to all of this evidence you've gathered and works with you to find some real answers and effective relief. Don't be discouraged if the rash fluctuates; your detailed history is the most valuable tool you have for getting an accurate diagnosis.
    • Scott Adams
      Gluten free beer ?

      By Scott Adams · Posted

      In this case the beer is excellent, but for those who are super sensitive it is likely better to go the full gluten-free beer route. Lakefront Brewery (another sponsor!) has good gluten-free beer made without any gluten ingredients.
    • trents
      Patiently Waiting to See Results

      By trents · Posted

      Welcome to the forum, @catsrlife! Celiac disease can be diagnosed without committing to a full-blown "gluten challenge" if you get a skin biopsy done during an active outbreak of dermatitis herpetiformis, assuming that is what is causing the rash. There is no other known cause for dermatitis herpetiformis so it is definitive for celiac disease. You would need to find a dermatologist who is familiar with doing the biopsy correctly, however. The samples need to be taken next to the pustules, not on them . . . a mistake many dermatologists make when biopsying for dermatitis herpetiformis. 
×
×
  • 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.