Very Confused...

[nutrifoodie]

I have been trying to figure out what exactly gene testing is for Celiacs, and how to go about it...

but I am getting confusing responses. First I was under the impression that for gene testing they have to take blood, and then a wonderful lady here told me that it is a cheek cell swab that you freeze and ship. (for labs that only do ship away testing the cheek cells make sense, as we cannot draw our own blood without going to a lab) but now my mother is confused and making me doubt the whole cheek cell thing (I have been forwarding her stuff to read about Celiacs).

please clear up my confusion!!

[ravenwoodglass]

It can be done with a cheek swab, don't think you freeze it though. I had mine done by Enterolab and also as a participant in the National Geographic Genographic project and both used the swab. If you are sending a stool sample that would be frozen.

[Mother of Jibril]

I did my genetic test through Enterolab... just a cheek swab. You don't even have to freeze it! You give each swab a good rub on the inside of your cheek (one for each side), let them dry, put them back in the wrapper, and ship the samples off through UPS. Very simple! With tax it was $174. It took about three weeks for the results to show up in my e-mail.

[sbj]

"I have been trying to figure out what exactly gene testing is for Celiacs."

Gene testing won't tell you if you have celiac disease. Don't be confused by Enterolab or other posts or sites - a cheek swab, stool testing, even a genetic test via blood can't diagnose celiac disease.

[Mother of Jibril]

True... genetic testing can't give you a diagnosis of celiac disease. But... it does indicate your level of risk (since 98% of celiacs have either DQ2 or DQ8). Also, some people find themselves in a situation where they can't get an accurate blood test. An allergist (a medical doctor who probably should have known better) advised me to try a gluten-free diet without offering a celiac panel first. The diet gave me SO much relief... there was no way I could go back to eating gluten! So... for me, a positive response to the diet + related autoimmune disorders + the DQ8 gene = no more gluten.

[sbj]

True... genetic testing can't give you a diagnosis of celiac disease. But... it does indicate your level of risk (since 98% of celiacs have either DQ2 or DQ8).

I agree with most of what you say except the part about level of risk. Even if you have the genes for celiac that doesn't mean much. Lots of people have the genetic capability but very few actually have celiac disease. This is something I've never quite been able to sort out. If one feels better going gluten free, how does it help to know you have the genetic capability? That still doesn't tell you whether you have celiac disease.

I've provided some advice to nutri before so I hope she understands I only mean well and want to be sure that - like so many others - she does not get confused by Enterolabs and some posters who talk about Enterolab's ability to 'diagnose' celiac even though you're not eating gluten. Just because the diet resolves some issues and you have the genes, don't assume you either have or don't have celiac. The gluten-free diet helps to resolve many issues even if you don't have celiac. But you might still have other issues. If you are correct with a self-diagnosis (celiac) you should do more than just follow the gluten-free diet; you should run a CBC, check for anemia, check for nutritional and vitamin deficiencies, and check your bone density.

Unless I am mistaken, nutri - you're at college? The student health center should be able to set you up for a celiac blood panel lickety-split! If I remember correctly, you had skin issues - perhaps you should first see a dermatologist for a skin biopsy - that's one way to confirm celiac disease.

[Mother of Jibril]

Just because the diet resolves some issues and you have the genes, don't assume you either have or don't have celiac. The gluten-free diet helps to resolve many issues even if you don't have celiac. But you might still have other issues. If you are correct with a self-diagnosis (celiac) you should do more than just follow the gluten-free diet; you should run a CBC, check for anemia, check for nutritional and vitamin deficiencies, and check your bone density.

I agree 100% with this! I don't assume that I have celiac and I don't assume that I don't have it

Incidentally, I did have a CBC (which showed elevated liver enzymes and borderline anemia), a metabolic panel, and I found out I have autoimmune hypothyroidism. I'd still like to get a bone scan... and be tested for Sjogren's antibodies. I'm seeing a new doctor in three weeks.

For me, the best thing about the genetic test is that it can indicate other disorders to watch out for. DQ8 is associated with type I diabetes and rheumatoid arthritis. DQ7 is associated with thyroid disorders, casein intolerance (which my son has), lupus, grass and pollen allergies, etc... It was absolutely worth the money I spent. It also tells me that both of my parents and both of my kids have at least one gluten-sensitive gene and might benefit from a gluten-free diet.

Sorry to get off on this tangent, nutrifoodie. What would you hope to gain from a genetic test? Obviously there are many factors to consider. If you're still eating gluten, please do get a blood test. That's the simplest way to get a diagnosis of celiac disease. Just remember that a negative result doesn't rule it out.

[nutrifoodie]

I agree 100% with this! I don't assume that I have celiac and I don't assume that I don't have it

Incidentally, I did have a CBC (which showed elevated liver enzymes and borderline anemia), a metabolic panel, and I found out I have autoimmune hypothyroidism. I'd still like to get a bone scan... and be tested for Sjogren's antibodies. I'm seeing a new doctor in three weeks.

For me, the best thing about the genetic test is that it can indicate other disorders to watch out for. DQ8 is associated with type I diabetes and rheumatoid arthritis. DQ7 is associated with thyroid disorders, casein intolerance (which my son has), lupus, grass and pollen allergies, etc... It was absolutely worth the money I spent. It also tells me that both of my parents and both of my kids have at least one gluten-sensitive gene and might benefit from a gluten-free diet.

Sorry to get off on this tangent, nutrifoodie. What would you hope to gain from a genetic test? Obviously there are many factors to consider. If you're still eating gluten, please do get a blood test. That's the simplest way to get a diagnosis of celiac disease. Just remember that a negative result doesn't rule it out.

Yes! I have posted my health story here before, unfortunately no one responded, so I didn't get much response if people thought I could have Celiac. I do have skin issues, but it is not DH and so it can't be biopsied. The dermatologist said it was seborrehiac dermatitis.. gave me a steriod oil, sent me on my way.... I would continue typing but you can read the whole story about the problems I have if you read my previous topic posts.

I have much more problems than just skin. The Big C (constipation) is one of my biggest problems.

I am in college!

I am off gluten (as well as several other things), and have been since February.. (see my signature).

My dad has recently discovered his problems are linked to wheat as well, and I think he might have celiac disease because he has a rash very like DH and other symptoms. He is going to get gene tested.. so that will tell me if I have the RISK to develop and/or have Celiacs. I KNOW the gene testing does not diagnose me. Being off wheat for so long I cannot do the blood test for antibodies, and I have low sIgA (found this out (along other things) from a stool panel), so I wouldn't show up for the antibodies if I did a normal Celiac panel anyway (there was also a gliadin test in the stool panel that came up negative of course).

[Mom2Twins]

Yes! I have posted my health story here before, unfortunately no one responded, so I didn't get much response if people thought I could have Celiac. I do have skin issues, but it is not DH and so it can't be biopsied. The dermatologist said it was seborrehiac dermatitis.. gave me a steriod oil, sent me on my way.... I would continue typing but you can read the whole story about the problems I have if you read my previous topic posts.

I have much more problems than just skin. The Big C (constipation) is one of my biggest problems.

I am in college!

I am off gluten (as well as several other things), and have been since February.. (see my signature).

My dad has recently discovered his problems are linked to wheat as well, and I think he might have celiac disease because he has a rash very like DH and other symptoms. He is going to get gene tested.. so that will tell me if I have the RISK to develop and/or have Celiacs. I KNOW the gene testing does not diagnose me. Being off wheat for so long I cannot do the blood test for antibodies, and I have low sIgA (found this out (along other things) from a stool panel), so I wouldn't show up for the antibodies if I did a normal Celiac panel anyway (there was also a gliadin test in the stool panel that came up negative of course).

Hi! I'm glad to hear that you are aware that the gene testing can't diagnose anything. From what I understand, gene testing is good to "rule out" celiac. If you don't have DQ2 or DQ8, than it is unlikely you will develop celiac (I'm not getting into gluten intolerance because I don't know enough about the genetics).

Where this would seem useful would be in my situation - I may get my kids tested, so I know whether they inheirited my celiac genes or not. If not, then we don't have to keep testing them.

It would also be useful (somewhat) for someone like yourself who is already gluten free, in that it can rule out celiac as a cause if you don't carry the genes. Keep in mind, I have read that somewhere between 30% and 40% of the population have these genes, but 1% has celiac, so having the genes is no indication of celiac - but it can rule it out.

Hope this helps! I know it's not easy to get testing once you are gluten free.

Here'a a helpful link about genetic testing:

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