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Test Results - Opinions Please

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Finally got copies of my daughters test results as we've ditched our paed in favour of a coeliac/gastro specialist. In short her antibody screen was negative, but as there is Coeliac in the family we took her gluten-free and she improved.

At first glance, I don't think she's had the full set of bloods done..? Can someone clarify? And the genetic test is all gobbledegook to me - can anyone make sense of it?

I'd just really like to be informed as possible for our appointment Weds.


Tissue transglutaminase IgG - Negative

IgA high sensitivity assay g/L result = 0.23 (0.2 - 0.7 Normal)

HLA Typing Test Results:

Test results - HLA-DQA1*02, DQA1*05; DQB1*02, DQB1*03

Definitive results - HLA-DQA1*02:01, DQA1*05:01:01G; DQB1*02:02/12, DQB1*03:01/27-29/35/42/44/47/49-51/83/84N

Positive for the DQ2 (DQA1*05/DQB1*02) genotype associated with Coeliac Disease


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The DNA testing is Greek to me too. It looks like she has the DQ2, which is associated with celiac disease, but about 30% of the world has that yet only 1% of the world has celiac disease. A positive genetic test just means that she is in the 30% group of people most at risk of developing celiac disease, and not that she has celiac disease.


She only had one celiac disease test run: the tTG IgA. While that's a good test, it's only one test, and not a perfect test at that - it misses between 5-25% of all celiacs. (See page 12 of this report: http://www.worldgastroenterology.org/assets/export/userfiles/2012_Celiac%20Disease_long_FINAL.pdf) 


The full celiac disease test panel is:

tTG IgA and tTG IgG

DGP IgA and DGP IgG (best test for detecting celiac disease in children)


AGA IgA and AGA IgG (older and less reliable tests)

total serum IgA (control test)


She also had the total IgA run, and I think she is very close to being deficient in IgA. About 5% of all celiacs, or 1/20, are deficient in IgA. IgA deficiency means that all IgA based celiac tests (like tTG IgA, EMA IgA, DGP IgA) are likely to show a (false) negative in those tests.  Because your daughter's IgA is close to being low, I think you should definitely have the IgG celiac based tests run.


If you are going to run more tests, do it before going gluten-free.


There is also the chance of it being non-celiac gluten sensitivity (NCGS), for which there are no diagnostic blood tests yet - only a positive response to the gluten-free diet (over a few months) is diagnostic.


Best wishes!  :)

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