Monday, June 25, 2007

Celiac Gene Test Curiosity for Gluten-Sensitivity

Last week when I had a routine appointment with my general practitioner Doctor, I asked him if he could run an HLA (Human Leukocyte Antigens) DQ2 and DQ8 haplotypes genetic test out of curiosity. I wondered which of these genetic markers I carry for a predisposition to Celiac Disease and gluten-sensitivity. This was mainly for curiosity sake, and I figured that since I had health insurance, I might as well try to get the test performed under a plan I already pay for.

So, my generalist tells me that he doesn't run any type of genetic tests, and refers me to a doctor in the GI (Gastro-Intestinal) department to see if they will run such a test. I received a call from the GI doctor today, and when I mentioned wanting the test, he said they don't run genetic tests because they are "so expensive" to run. I asked him what "so expensive" was, and where he got that opinion from. He said he heard from other practitioners that the tests were "really expensive", although he had no first-hand experience with them. I had him quantify what he thought "really expensive" was, and he said "a couple thousand dollars or so".

Well, at this point I pretty much knew he was uninformed and tried to clue him in on the fact that such tests really are not nearly that expensive. I already knew that Enterolab offers a gluten-sensitivity gene test for $149.00 and told the doctor this. His first question was "is that a reputable firm?". Well, I sure hope so, as I have heard about it from a lot of people on the forums and elsewhere. Seems like it's not a very complicated test to take a swab from inside your mouth, and analyze the DNA for a couple genetic markers. These days, this should be rather straight-forward.

So, even though my health-provider (and health-insurance) won't cover the Celiac-Disease predisposition / gluten-sensitivity predisposition gene-test, a doctor in the GI department at my provider has at least now heard that the tests are lower priced than he thought they were. Who knows if that'll ever make a difference as to whether my insurer will ever offer or cover such a test in the future, or whether the information went in one ear and out the other, but I tried to get him to at least consider the idea.

Also, to be clear, I understand that a gene-test of this type is not a "front-line" test for Celiac. The reason this is the case is that even though you have one or both genetic markers, that does not necessarily mean you'll have Celiac Disease. But, what it can be quite useful for is to eliminate Celiac as a possibility when you have neither marker (the lack of both the DQ2 and DQ8 markers means with 99% probability that you'll not have a gluten problem / Celiac).

I think I'll go ahead and order the Enterolab test sometime in the coming weeks just to satisfy my curiosity. I figure, for $149, it'd be interesting to find out what genetic analysis has to say about my likelihood of having this condition. There are so many people in my extended family with the problem, I figure at least one of the markers must be present in the gene-pool somewhere.

What will knowing the details do for me?... not much, aside from satisfying a bit of curiosity, and giving me a bit more hands-on experience with some testing procedures.

12 comments:

Alison said...

Mike,
Kimball Genetics also runs the DQ2 and DQ8 tests. As far as Enterolab being reputable: my dad, who is a pediatrician, did the gene tests at both Kimball and Enterolab. Enterolab found the DQ8 and Kimball found none. When my dad questioned Kimball, they re-ran the test and realized they had made a mistake and indeed found the DQ8. My family believes Enterolab is doing a great (and accurate) job of testing for gluten-related (and casein and other) problems.
Alison

www.surefoodsliving.com

Sheltie Girl said...

Mike - I'm planning to do the Enterolab tests for myself and my family. After reading all the information about gluten-sensitivity it makes sense to do so.

My internal medicine specialist knows about Enterolab and says that they are a reputable lab. She wouldn't have any issues with accepting test results from them. Just thought you'd like to know.

Sheltie Girl @ Gluten A Go Go

Anonymous said...

I've read where a person had neither celiac gene but was celiac:
http://www.glutensensitivity.net/cases.htm#Allison

Re: cost of gene test. Consider that your doc was talking about blood vs enterolab's saliva test? I wonder what the difference is?!

Mike Eberhart said...

Thanks for the feedback everyone! That info on Enterolab and such was great, and I'm sure others will find it useful too. I will definitely give the gene-test a try just to see what it shows.

Anonymous said...

I had the gene tests done on all my kids and the research I have done says that the tests must go through the Mayo clinic or Promethius in CA (there are a few others) and the did cost a couple thousand each.

A&D said...

I'm also waiting for these tests to come to Canada. At this stage, they are only w/ special permission from our gene testing hospital. D

Anonymous said...

One thing to note - some labs only say you have DQ2 *IF* you have the DQ2.5 variant - encoded by DQA1*05 and DQB1*02 genes ..(DQ is in a pair labeled a1 and b1 - generally b1 puts you in the DQ category such as DQ2 or DQ8 but in this instance the a1 part is important - depending of course which authority you use) entero labs (unless they've changed) only test for the DQB1*02. So yes you might be DQ2 but not the DQ2 associated (by some) as Celiac - depends on the lab. One lab told my son he had both DQ2 and DQ8 .. but I supposedly had neither in a celiac gene test. I believe that I have DQ2 encoded by DQA1*02 and DQB1*02 so was "negative". Entero only test for the DQB1 side of the pair.

Not that their test is invalid just in the case of DQ2 may not be enough of a test - although they are taking the position that it doesn't make a difference if you are DQ2.2 or DQ2.5 .. you would still be susceptible to Celiacs. Other in the med community disagree. fwtw.

William said...

I am only learning the specifics about genetic tests for Celiac Disease or Gluten-Sensitivity. I am not shocked by the insurance company, though a little disapointed in them. Your documented venture is helpful. Thanks. William from www.glutenfreesimplicity.wordpress.com

Andy McBride said...

40% of the US population carry these genes so they are not an indication of Celiac disease. If you don't have them you cannot develop Celaic disease. It's like taking a test to see if you have a car, therefore figuring you must have a Ford.

Anonymous said...

So, what percentage of people that have the gene markers indicating a possible reactivity to gluten are in fact reactive? Our naturopath used the wording that if you have the markers, you have a "high likelihood" of developing gluten sensitivity and/or celiac?

Anonymous said...

Hey! Great blog :)

Just wondering if you got to trying the saliva test and what your results were? I'm thinking of doing the test but don't know which company to buy from!

Mike Eberhart said...

I personally have not had this test performed, Anonymous. Sorry I can't add my own first-hand experience to the mix. I already know for sure I have the condition, as do quite a few relatives, so I assume the genetic marker(s) would show; perhaps someday I will get this test just to see if my DNA lines up with these genetic-tests as I expect it does.