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paperbagprincess

What Does The Gene Test Mean?

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My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.

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My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.

In short, blood tests can often have false negatives. Your GP is correct about the gene test in that if you have the gene, you can develop celiac but won't necessarily. If you have the genes, close relatives with celiac, symptoms of celiac (vitamin deficiencies likw B12 and folate) which resolve on a gluten-free diet, then chances are you have celiac.

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My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.

Did they tell you whichgenes you had? There is such an array of them.

You can read some about the genes here, and in the table that is about halfway down the page you can click links to each separate DQ type.

The presence of the gene does not confirm a diagnosis, but it does point to a genetic predisposition to getting celiac. Your family history and positive response to being gluten free tell you a LOT. Sounds like healthy choice for you.

beachbirdie

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I have found the Wikipedia articles easiest to understand search for HLA-DQ). The genetic marker tests - HLA-DQ reports list the results as the marker numbers. www.Enterolab.com only gives the results for the HLA-DQ B but other labs report the marker number of the HLA-DQ A and B. The A and B are subunits or alleles of the HLA DQ gene. We inherit one DQ gene from each parent, an A and a B. The report usually states whether a person has one or two main celiac markers.

An older test done by serology tests for the shape of the antigen binding site. Drs often prefer to use the terminology of this test. The Wiki article will tell you how to figure out how to tell whether you have a DQ1 thru DQ8 or DQ9 and there are individual articles for each HLA-DQ class.

My Enterolab results (DNA assay)

HLA DQ B 0302

HLA DQ B 0602

The 0302 is a main Celiac marker (often referred to as a gene)

The 0602 is a marker that put me at risk for developing non-celiac sprue ( a Leaky Gut Syndrome, not autoimmune)

The older terminology:

The 0302 translates to a HLA-DQ8

The 0602 translates to a HLA-DQ6

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I have heard that there is an at home DNA "genetic" test that you can order, swab and send off for results and the cost is reasonable......I will try to get the name and post it for you. I have not used it myself but have considered it for my children to rule out celiac....their blood tests were negative at this time but I would like to know if they carry the gene instead of testing every couple of years.

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Thanks everyone. I live in New Zealand so that sending the swab away thing is probably not available here. I'm not sure which of the gene tests I had done, the doctor just said it was positive. Thanks everyone.

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