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From:
Johanne Johnson et Robert Bilodeau <[log in to unmask]>
Date:
Tue, 31 Oct 2000 07:52:27 -0500
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<<Disclaimer: Verify this information before applying it to your situation.>>

This was my questions:

>Hi Iist, I was seing these tests advertised on the internet and I was
>wondering how accurate are the HLA gene tests to depist celiac disease.
>
>If it is accurate, should it be used instead of the biopsy?
>What genes are involved in celiac disease?
>
>If you had this test, please let me know what you think about it.

The answers I received were very interesting.

I think it is a question that interest a lot of people, because I received
more e-mail saying that they were looking for to read my summary, than other
e-mail.

Thanks to everybody and here are the answers I received:

*****************************

The gene test, at least the one given by Dr. Fine's Lab, merely tells you
whether or not you have an inherited pre-disposition to Celiac Disease and
Lactose Intolerance. It does not diagnose the disease. However, if you do
NOT have the gene, then you cannot have the disease- so you can use the gene
test to eliminate celiac disease as a cause of you problems if your results
are negative.

Dr. Fine can be contacted by email at: [log in to unmask]

************************************

We did the cheek swab gene test for my 3 year old, had the blood tests, but
NOT the biopsy. We decided to do that because I have Celiac (his mom) and
so does his sister. His IgG blood test was positive and his gene test came
back positive. He is now gf and he is healthier, his daily tummy aches are
gone, and so is his excema.

The gene test does NOT indicate that a person has Celiac NOW, only that they
have the predisposition to get it. But for my son, I am sure he had an
active case of Celiac and I was just making sure he had the gene.

For most people, I would not recommend the cheek swab gene test INSTEAD of a
biopsy. I would recommend it IN ADDITION to a biopsy since biopsies often
return false negatives. It is one more piece of the diagnostic puzzle.

**************************************

>The HLA tests aren't a substitute for the antibody tests and biopsy for
>celiac. They can be helpful to confirm a diagnosis and to tell those of
>us who went gf before getting antibody tests if we have the genetic makeup
>for celiac. 20% of the population has the same genes but not all of
>those get the disease. It's a combination of genetics and environment.
>
>I'm awaiting the results myself of a test I had taken a month
>ago! Specialty labs tests for HLA DQA 0501, DQB 0201, and DRB 0301, the
>most common genotype for celiacs. To further complicate matters, not all
>celiacs have this genotype! So you can see it's far from perfect. But if
>one has the above genotype, it confirms a celiac diagnosis because 90% of
>celiacs are of this type.

****************************

I have no medical training. I did attend a lecture by a research doc in
the MASS/ RI support group. She said they have not identified the
precise genetic marker yet. They have found a marker that all celiacs
have - BUT 1/3 of all the regular population has it too, and not all of
them have CD, so there is at least another unidentified marker that they
are trying to identify.

*****************************

Hope it helps.

Johanne Johnson
Montreal QC Canada

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