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Anyone Able To Interpret The Genetic Testing


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8 replies to this topic

#1 Debbie48

 
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Posted 29 December 2011 - 11:00 AM

Today I got my genetic testing back.

It shows category #4 DQ2 heterozygous. Related risk high. Though I see there is a Very High and Extremely High category, in addition to Moderate, Low, and Extremely Low.

Specifically, DQ2.5 (HLA DQA1*05:DQB1*201) are listed.

The only blood work that came back positive was the Anti-gliadin IGA, which was 24 on a range from 0-15.

Biopsy was done a few months before they were really looking for celiac so I don't know how many biopsies were taken, but they didn't show anything abnormal.

Yes, I have many symtoms but I also have sjogren's syndrome.

Have been trying to be gluten free but am still trying to work out things like shampoos, detergents, lotions, and the like. It will probably take awhile to get thing right.

I am not feeling at all better after a few weeks gluten free. In fact, I'd say that it feels like everything I eat makes me sick and I continue to lose weight.

Have pain in my arms and tingling in my face, legs, and feet.

Thoughts?
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#2 nora_n

 
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Posted 29 December 2011 - 04:41 PM

This is the most common celiac gene, also nicknamed HLA DQ2. (HLA DQ2,5)

You have only one copy of the DQ2,5 gene.

If you call the lab, they might have the result of the other gene (but it would not change things, since you already have the typical celiac gene)

Those genes are just about the risk, they do not mean you are celiac. Lots of people have HLA DQ2 and will never develop celiac disease.

The positive antigliadin IgA probably means it is early or patchy celiac, and with patchy celiac they might find a spot with celiac, or not, when taking biopsies.

Did they do the more specific deaminated gliadin test that many are getting now? It is much better at catching early celiac.
  • 1
gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#3 Debbie48

 
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Posted 30 December 2011 - 08:39 AM

They did 4 different tests on blood work before the gene test. Here's what came back.

IMMUNOGLOBULIN A-SERUM normal range

GLIADIN ANTIBODY, IGA 24 (Abn: H) 0 - 15 is normal

GLIADIN ANTIBODY, IGG normal range

TISSUE TRANSGLUTAMINASE-A normal range

Annotation:
GLIADIN ANTIBODY, IGA
strict gluten free diet.


As stated, they would not do another endoscopy because they had done one 3 months earlier while checking for something else. From what I read on the biopsy report, lab only received 2 samples from the small intestines, which looked normal.

The only thing shown in the endoscopy was inflammation of the stomach. Colonoscopy showed 3 small diverticula.

Nurse for GI doc says go gluten free, regular GP says this really doesn't mean anything. It's very important to me, of course. My son came back with the same blood work, with an even higher Gliadin Antibody, IGA of 36.
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#4 researchmomma

 
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Posted 30 December 2011 - 10:06 AM

They did 4 different tests on blood work before the gene test. Here's what came back.

IMMUNOGLOBULIN A-SERUM normal range

GLIADIN ANTIBODY, IGA 24 (Abn: H) 0 - 15 is normal

GLIADIN ANTIBODY, IGG normal range

TISSUE TRANSGLUTAMINASE-A normal range

Annotation:
GLIADIN ANTIBODY, IGA
strict gluten free diet.


As stated, they would not do another endoscopy because they had done one 3 months earlier while checking for something else. From what I read on the biopsy report, lab only received 2 samples from the small intestines, which looked normal.

The only thing shown in the endoscopy was inflammation of the stomach. Colonoscopy showed 3 small diverticula.

Nurse for GI doc says go gluten free, regular GP says this really doesn't mean anything. It's very important to me, of course. My son came back with the same blood work, with an even higher Gliadin Antibody, IGA of 36.

Take all this paperwork to a new GI that specializes in Celiac disease.
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#5 Skylark

 
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Posted 30 December 2011 - 04:44 PM

Nora has given you great advice. :)
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#6 Debbie48

 
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Posted 31 December 2011 - 07:54 AM

Thanks everyone!
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#7 domesticactivist

 
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Posted 31 December 2011 - 10:21 AM

Yup.
  • -1
Our family is transitioning off the GAPS Intro Diet and into the Full GAPS Diet.
Gluten-Free since November 2010
GAPS Diet since January/February 2011
me - not tested for celiac - currently doing a gluten challenge since 11/26/2011
partner - not tested for celiac
ds - age 11, hospitalized 9/2010, celiac dx by gluten reaction & genetics. No biopsy or blood as we were already gluten-free by the time it was an option.
dd - age 12.5, not celiac, has Tourette's syndome
both kids have now-resolved attention issues.

#8 nora_n

 
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Posted 01 January 2012 - 05:41 AM

There recently was a study trying to find out why one area in the U.S. had half as many positive biopsies compared to the other half of the country, and the difference was how many samples were taken.

Now the area where they took 4 or more samples while doing endoscopy, had twice as many diagnosed with celiac compared to where they only took about 2 samples.

I guess they missed your celiac, as the most common form of celiac nowadays is patchy celiac.

Also, the antigliadin test is known to rise first, and then the ttg, in early celiac.

I would guess that if you continue eating gluten, and even increase the gluten intake, then you will get a positive ttg test, and positive biopsies, after a month or two.

Things can change in a matter of a month or two or three.

But maybe the very specific deaminated gliadin test would tell you more beforehand, as it is very specific for celiac. If it is negative, it probably would not help to do another endoscopy yet.

(here in Europe we often do a gluten challenge to get a diagnosis, if the test results are dubious)
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gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#9 Debbie48

 
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Posted 01 January 2012 - 07:57 AM

You are so knowledgeable, Nora!

Thank you for the information!

I love this group!

Debbie
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