| Posted by: curlyqsmom , Apr 17,2008,07:31 |
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Ten facts you need to know about celiac genetic testing
10 facts you need to know about celiac disease genetic testing. 1. Genetic testing can help determine your risk as well as your children’s risk for celiac disease. 2. Celiac genetic tests are readily available and can be done on blood or on a sample from a mouth swab but your doctor may unaware of the tests, how to order them, or how to interpret the results. 3. Genetic testing can be done whether you are eating gluten or not eating gluten. Blood tests for celiac disease antibodies however need to be done while eating gluten and become negative within a few weeks of restricting gluten. 4. Your insurance may not pay for the test. Even if your insurance covers the test they likely will require a pre-authorization. When ordering the tests the following diagnostic codes are helpful: 579.0 (Celiac disease); V18.59 (family history of GI disease); and/or V84.89 (genetic susceptibility to disease). 5. Even if your doctor orders celiac genetic testing and your insurance covers it, the laboratory that performs the test may or may not perform the all of the necessary components of the test. So, before you accept that have a negative test you need to know if the test included both the alpha and beta subunits of HLA DQ or just beta typing. 6. If you are a man a negative genetic test may not exclude the possibility of celiac disease anymore than a negative blood test. Men more commonly have negative genetic tests and blood tests. 7. The number and type of at risk genes matter when determining both your risk and the severity of celiac disease. Two copies of DQ2 carries more risk than one copy of DQ8 or only partial DQ2 but even a single copy of DQ2 alpha subunit carries risk for celiac disease though most laboratories do not test for this component of the celiac genes. 8. The absence of at risk genes DQ2 and/or DQ8 does not exclude the possibility of being gluten intolerant or sensitive. You may respond to a gluten free diet even if you don’t have DQ2 or DQ8 or have true autoimmune celiac disease. 9. You can get genetic testing without a doctor’s order and the tests can be done without having blood drawn or insurance authorization if you are willing to pay between $150-400. 10. Laboratories in the U.S. that are known to offer complete alpha and beta subunit genetic testing include Kimball Genetics, Prometheus, and LabCorp. Bonfils, Quest and Enterolab only test for the beta subunit portions and may miss part of a minor alpha subunit that carries a risk of celiac disease. So, in summary, genetic tests for celiac disease are readily available both on blood and mouth swab samples. These tests can determine the risk of developing celiac disease and predict severity as well provide information regarding family members risk. The absence of any portion of the high risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, this requires that both alpha and beta subunit testing is performed. Even then being negative for DQ2 and DQ8 does not completely exclude the possibility of celiac disease, especially in men, and by no means excludes the risk of gluten intolerance or sensitivity. Recent studies have provided further information that is gender specific. If you are a man, your risk of celiac disease may be higher than a woman if you don’t have the classic genetic patterns and your blood tests may be negative. If you are a woman your risk for celiac disease is generally higher than a man, especially if you have received the at risk gene from your father. Celiac is arguably the most common autoimmune disease. It is very common. It is easily treated. It affects 1/100 people worldwide. However, most people with celiac disease (>90%) are unaware, undiagnosed or misdiagnosed. Most adults finally diagnosed with celiac disease have suffered at least 10-11 years and have seen more than 3 or more doctors. Don’t be one of those missed or who suffers needlessly. Learn about the genetic testing of celiac disease and if necessary educate your doctor about this testing. HLA-DQ and Susceptibility to Celiac Disease: Evidence for Gender Differences and Parent-of-Origin Effects. Megiorni F et al. Am Journal Gastroenterol. 2008;103:997-1003 Copyright © 2008, The Food Doc, LLC, All Rights Reserved.
Scot M. Lewey, D.O., FACP, FAAP, FACOP Author Bio Dr. Scot Lewey is a digestive disease specialist doctor (board certified gastroenterologist) whose medical practice focuses on digestive and food related illness. Also, known as Dr. Celiac, the Food Doc, Dr. Lewey shares his experiential knowledge for a healthy gut, healthy life on-line. Start learning today from his extensive personal and professional experience. Dr. Lewey is uniquely qualified as an expert and one of the few GI doctors who is also gluten sensitive and dairy sensitive. He has nearly a quarter of century of experience in the diagnosis and treatment of food allergy & intolerance, colitis, Crohn's disease and IBS. He is married to someone who has Celiac disease. He and his family live gluten free in Colorado.
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Replies:Re: Celiac Testing
Re : Celiac Testing --- curlyqsmom Posted by: KimS , Apr 17,2008,08:14 Top of Thread
Thanks for sharing that. Joel was just diagnosed with Celiac and just yesterday I fought with the PCP to have my 14 yrs. old tested even though he's asymptomatic (we think).Kim
Joel 11 Crohn's, Celiac
(Humira, azathioprine, prevacid)Re: Re: Celiac Testing
Re : Re: Celiac Testing --- KimS Posted by: curlyqsmom , Apr 17,2008,09:55 Top of Thread
Kim,
You may want to check out the sight where the info is from.thefooddoc.com
He is a GI who is motivated by the fact that his wife has refractory celiac disease. He seems to delve into things that others don't seem to--I find it quite interesting.
You may also want to check out this sight if you need some meal ideas or things for special occasions.
http://www.mcgovernsorganics.com/
Wishing you the best sorting this all out.
Re: Re: Re: Celiac Testing
Re : Re: Re: Celiac Testing --- curlyqsmom Posted by: KimS , Apr 17,2008,11:02 Top of Thread
Great site.Thanks
Re: Re: Celiac Testing
Re : Re: Celiac Testing --- KimS Posted by: curlyqsmom , Apr 17,2008,09:52 Top of Thread
Kim,
You may want to check out the sight where the info is from.thefooddoc.com
He is a GI who is motivated by the fact that his wife has refractory celiac disease. He seems to delve into things that others don't seem to--I find it quite interesting.
Wishing you the best sorting this all out.
Re: Re: Celiac Testing
Re : Re: Celiac Testing --- KimS Posted by: Laura D. , Apr 17,2008,08:33 Top of Thread
Kim,May I ask how Joel was dx? Symptoms or why it was even considered? Did he have the genetic test done?
I'm curious b/c Max had some ++ on the DNA test and some abnormalities on the celiac panel along with flattened villi at one point but our celiac "expert" does not think he has it although has a chance of developing.
I'm really sorry you all have to deal with another thing. I know on the one hand it sounds so great b/c you "just" have to eliminate gluten and you're good to go but I know how hard that can be. Did you order the goody basket that Virgie talked about? Good luck.
Laura (max 4 IBD)Re: Re: Re: Celiac Testing
Re : Re: Re: Celiac Testing --- Laura D. Posted by: KimS , Apr 17,2008,09:03 Top of Thread
Laura -Joel's Celiac diagnosis has been a real circus. First they say he has it, then they say he doesn't, now they say he does again. He has abdominal pain, joint pain, sometimes diarrhea but not much, and mouth sores. On biopsies, he's had flattened villi, normal villi, flattened villi, scalloping in the pillcam - it depends on which EGD results you want to use.
His DNA test put him in the highest risk group of developing Celiac (31X that of the general population) and his TTG IgA was high and EMA IgA was postive. Total IgA was also high, but I'm not sure yet what that means.
The main reason the GI has pursued this is because he believes that the Crohn's is under fairly good control despite the continued symtpoms.
Yes, you're right, it is another thing to deal with. We've been gluten free before and it didn't seem to help much, but maybe it wasn't long enough, or maybe there is some other food we need to eliminate. I don't know.
Virgie did mention the goodie basket, but I haven't been able to find it yet. I'm sure that was way more info than you really wanted. I hope it helps some.
Kim
Re: Re: Re: Re: Celiac Testing
Re : Re: Re: Re: Celiac Testing --- KimS Posted by: Laura D. , Apr 17,2008,10:36 Top of Thread
Not TMI at all. I am a little bit lost in what all of the testing means. Max had blunted villi in his duodenum with a dx. of UC at one point so I asked for the celiac panel to be done. Well, the orders were in the computer but were not supposed to be done for several weeks out because he had been gluten free. The lab did them anyway and some were abnormal. Our nurse kept saying they were abnormal due to nutrition. I told her I didn't understand and she just kept saying the same damn sentence over and over ...'it's because of nutrition". Finally since I was not getting it I guess she said lets put this to rest and do the DNA test. Guess she wasn't planning on him having some positives. Only one or two alleles but enough that they needed to re consider. Review of biopsies say not at the moment but it all seems so up for interpretation.
I hope the diet helps Joel's symptoms quickly.Laura
Link to basket - I encourage all newly dx with Celiac to get this
Re : Re: Re: Re: Celiac Testing --- KimS Posted by: Virgie , Apr 17,2008,10:25 Top of Thread
Hi! Sorry it took so long to get back to you.Here is the link to get the care basket.
http://www.celiacdisease.net/care-packageIt is a really great basket. It has cookbooks, printed info. A gluten free products book, coupons, plus many full size gluten free products to try. I definitely encourage all those newly dx to get this as it has so much information in it. It helps you to feel less overwhelmed by the prospect of going gluten free.
How long were you gluten free before? I have heard that it can takes weeks before it could help. Also you have to be extremely careful of cross contamination. For example - My kids like to use straws and they each have their own container to help with avoiding cross contamination. Son thought of that because he said if I am holding a sandwich and then reach in to grab a sraw I could get crumbs on a straw that she might use next. Good thinking son! I would not have thought of that. I knew to get a new toaster just for her, new cutting board, new pasta strainer (that is a bigger as gluten can really stay iside those little holes), etc. She also has her own container of butter, jam, etc. We write GF on things so we know that is hers and not to contaminate it. Well you probably do know all of this but just wanted to make sure that you did. I know people in daughters school has no clue as to what is all involved in being gluten free. They had state testing at school the last couple of days and they offer snacks of course daughter couldn't eat any of it as it was banana bread and cinnamon rolls. The teacher in charge was like "Well I know you can't eat this so I will just have to eat it for you" haha. It didn't bother her too much but still I wish they would offer something that she could eat. I mean couldn't of they brought in some apples and bananas? Oh well.
Good Luck Kim and let me know if you need anything.
Virgie
P.S. He may not have celiac but could be gluten sensitive which could account for the test results being what they are.
Re: Link to basket - I encourage all newly dx with Celiac to get this
Re : Link to basket - I encourage all newly dx with Celiac to get this --- Virgie Posted by: KimS , Apr 17,2008,10:59 Top of Thread
Thanks for the link Virgie. I wasn't trying to rush you.It is possible that he was getting cross contamination or that we just didn't do the diet thoroughly enough or long enough. The GI seems to feel it is Celiac, but like I think I told you, he's reviewing the biopsies again to be sure and may do another EGD. We'll see.
There are so many things to consider with food prep and shopping. It is very overwhelming. I'm sure we'll adjust in time and then it will seem perfectly normal to us.
Your daughter is a real trooper. With all the allergies and digestive disease problems of today, it seems like somebody in the school should have at least notified the parents about what was being given to the kids in case they needed alternatives.
Thanks for the link and all your help.
Kim