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Genetic Testing


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7 replies to this topic

#1 ashase

 
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Posted 20 August 2004 - 05:40 PM

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....
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#2 Alexolua

 
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Posted 20 August 2004 - 06:22 PM

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.
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#3 gf4life

 
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Posted 20 August 2004 - 06:48 PM

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
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~West Coast-Central California~

Mariann, gluten intolerant and mother of 3 gluten intolerant children

#4 ashase

 
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Posted 21 August 2004 - 06:41 PM

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 :(
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#5 Alexolua

 
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Posted 21 August 2004 - 07:14 PM

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.
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#6 gf4life

 
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Posted 21 August 2004 - 07:47 PM

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 :)
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~West Coast-Central California~

Mariann, gluten intolerant and mother of 3 gluten intolerant children

#7 ashase

 
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Posted 22 August 2004 - 05:19 AM

Why don't docs trust enterolab? Was the gene testing done with a blood orcheek sample?
Thanks,
Jessica
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#8 Alexolua

 
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Posted 22 August 2004 - 11:13 AM

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.
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