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Old 12-02-2006, 01:50 PM
canoe canoe is offline
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Default Genetic Testing Awareness Campaign

I thought that maybe this would be of interest to some of the members.

Marilyn




Celiac Disease Genetic Testing Awareness Campaign Launched by Kimball Genetics


Copyright © 1995-2006
Scott Adams.
If you would like to learn more about celiac disease genetic testing, or read about my personal experience with Kimball Genetics, be sure to read the following two related articles:

Your DNA Results Indicate: Super Celiac! By Scott Adams
Understanding the Genetics of Gluten Sensitivity by Dr. Scot Lewey
Celiac.com 11/29/2006 - Kimball Genetics, Inc. announces its participation this week at the XII International Celiac Disease Symposium in New York City and its support of the Celiac Disease Center at Columbia University. Kimball Genetics has a strong commitment to celiac disease education and genetic testing for this common, chronic, autoimmune disorder. Celiac disease affects approximately 1% of the U.S. population but is highly underdiagnosed, with less than 10% of cases currently detected. In genetically susceptible individuals with the specific markers HLA-DQ2 and HLA-DQ8, ingestion of gluten-containing grains causes inflammation of the small intestine and leads to malabsorption. Symptoms may be gastrointestinal and/or a wide range of other multi-systemic manifestations such as iron-deficiency anemia, chronic fatigue, osteoporosis, dermatitis herpetiformis, and attention-deficit/hyperactivity disorder. Early diagnosis and lifelong treatment with a gluten-free diet is critical to relieve inflammation and symptoms and to reduce the risk for development of secondary autoimmune disorders such as type 1 diabetes. Silent celiac disease, involving inflammation without symptoms, is also important to detect and treat.

Kimball Genetics offers the Celiac Disease DNA Test, a genetic test with increasingly recognized importance in the diagnostic work-up of celiac disease. The test is valuable because it excludes the diagnosis of celiac disease in patients with a negative result, detects family members at risk for the disorder, and is accurate even when the patient is on a gluten-free diet. Both antibody testing and small bowel biopsy require going off a gluten-free diet to gain reliable results if the patient initiated the diet before diagnosis.

Kimball Genetics is the only laboratory presently offering celiac disease DNA testing on cheek cell specimens with results available in one day. Dr. Peter Green of the Celiac Disease Center at Columbia University says "Cheek cell testing at Kimball Genetics is convenient and tremendously popular with my patients since it eliminates the need for blood draw. The one-day turnaround time and expert genetic counseling provided with Kimball's service are much appreciated." The Celiac Disease Foundation also recommends Kimball Genetics' Celiac Disease DNA test due to these unique features of its service.

In concurrence with the National Institute of Health's "Celiac Disease Campaign for Health Care Providers and Public," Kimball Genetics, Inc. conducts ongoing educational efforts including presentations to gastroenterologists, family practitioners, nautropaths, chiropractors, and nutritionists, and assists national celiac support groups. Dr. Annette Taylor and genetic counselors from Kimball have written an in depth review about celiac disease, co-authored by Dr. Peter Green, soon to be published in GeneReviews online. In addition, Kimball Genetics is collaborating with Drs. Xavier Castellanos and Dominick Auciello from New York University Child Study Center and Dr. Peter Green from Columbia University on an exciting new research study to determine the incidence of celiac disease in children with attention-deficit/hyperactivity disorder (ADHD) or learning disabilities.

About Kimball Genetics, Inc.

Founded in 1994 by Annette K. Taylor, M.S., Ph.D., Kimball Genetics is a national DNA diagnostic laboratory specializing in testing for common genetic disorders that are preventable or can be treated. Known for its unparalleled turnaround time and distinctive focus on genetic counseling and education, the company has a major focus on celiac disease and is at the forefront of education and testing for this disorder. Other major areas of testing currently include inherited hypercoagulability, hemochromatosis, cystic fibrosis, and fragile X syndrome. Soon Kimball will be expanding into pharmocogenomic testing which allows for the personal customization of drug therapy.
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Old 12-02-2006, 02:08 PM
jcc jcc is offline
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Thanks, Marilyn!
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The Gluten File
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Old 12-02-2006, 03:36 PM
annelb annelb is offline
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Quote:
Originally Posted by canoe View Post
Kimball Genetics offers the Celiac Disease DNA Test, a genetic test with increasingly recognized importance in the diagnostic work-up of celiac disease. The test is valuable because it excludes the diagnosis of celiac disease in patients with a negative result, detects family members at risk for the disorder, and is accurate even when the patient is on a gluten-free diet. Both antibody testing and small bowel biopsy require going off a gluten-free diet to gain reliable results if the patient initiated the diet before diagnosis.
Thanks for this info, Marilyn.

Don't forget about the small percent of people who have CD without DQ2 and DQ8. I think it gives a false reassurance to some who may develop CD or GS without those genetic markers. From all I have read, the only thing a genetic test can do is tell you what markers your genetic markers are, but it cannot tell you if you have or will have problems with gluten. Seems that doctors don't mind if a few people slip through the cracks.

Wish Kimble would test for the other markers as does Enterolab - but those are controversial for the present time.
Anne
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Old 12-03-2006, 02:27 AM
GFPaperdoll GFPaperdoll is offline
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It is going to be a travesty that they will not test for DQ1. I was at my Houston Celiac support group today, talking to the new doctor on our board, that volunteered, he is from Boston childrens Hospital and now at Texas Childrens Hospital in Houston. I was telling him about my family & our DQ1 genes & he said you mean DQ2 & I said no DQ1 - it was completely over his head, I am sure he has never heard of DQ1 and he thought I was a nut case, I guess. He has celiac himself. He said that he was diagnosing a lot of it here in Houston, although the "genetic type of people" in Houston were very different than the Boston area.

& I mentioned to the director that my sister was just diagnosed by a blood test & she said that is not enough, & then I said well she also tested positive thru Enterolab. I get the gist that most of these people think you have to have a biopsy to be dx. I personally think they are still in the dark ages of celiac. My sister is obviously gluten intolerant but does not have intestinal damage although she does have IBS etc.

so gene testing is good, but oh sooooo many DQ1 people are going to be missed and these are the people that are going to get so sick with failure of the heart, kidneys, liver etc, not counting the brain on and on...
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Old 12-03-2006, 09:21 AM
OZZ OZZ is offline
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Marilyn, thanks for the info. While at the conference, I talked to the Kimball reps and discussed how many of us want to know more than are we a DQ2 or DQ8. I told her to come here and read about all the DQ1 people and how they are getting better going GF. She was very interested and said they actually could tell you your DQ1 numbers but don't give that info out because the script only asks for the Celiac HLA.

So, I would imagine anyone going through this group only has to call and ask them to be more specific. Of course this is hear say so no guarantees from me.

I think the cost ranges somewhere in the $350 range and I am not sure if buying the test costs more...they were giving away some tests at the conference.

I do hope they come here and read about all the DQ1 people who have the exact same symptoms as the DQ2 and DQ8 people. Do we have a link to a genetic post here? I will look.

Here it is: http://brain.hastypastry.net/forums/...ead.php?t=3404

Last edited by OZZ; 12-03-2006 at 09:27 AM. Reason: adding the link
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Old 12-04-2006, 12:54 PM
Zonulin Zonulin is offline
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And Dr. Scot Lewey concurs with Dr. Kenneth Fine regarding haplotypes - this article by Lewey from celiac.com states that unless you are HLA DQ4, you WILL have a problem with gluten: http://www.celiac.com/st_prod.html?p_prodid=1359 I think they should just test for HLA DQ4, and assume that whatever autoimmune illness the patient has is at least partially caused by eating gluten. But I always like to simplify things to eliminate brain cobwebs.

Karen
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