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What Genetic Testing Should I Request?

basilicious

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basilicious Explorer
basilicious
Posted

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!

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basilicious Explorer
basilicious
Posted
  • Author

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!

Well, I was really in a pinch when I posted this but was able to do some additional research that I wanted to share. In fact, it came from celiac.com, so it was my oversight!

The information was under Ten Facts about Celiac Disease Genetic Testing (link is here: https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html)

"The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on "negative celiac genetic testing". To definitively declare you have negative celiac genetic tests requires that the laboratory test for and report the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits. The DQ genetic patterns DQ2 and DQ8 have two subunits but some laboratories only test for the beta subunit. This DQ typing is complicated and difficult to understand even by physicians and scientists. I have written an updated detailed review that appears in the Spring 2008 issue of Scott-Free newsletter published by celiac.com."

So what I took from that is that I should request the genetic testing, which I did today during my appointment, and to help ensure a credible lab result, it's critical to ask that the lab test for both the alpha and beta subunits...to confirm the presence or absence of the entire HLA DQ genetic pattern. If the lab can't do that, then ask your doctor to find a lab that can. If there are other genes that others on here are aware of, please fill me in. I will continue my research and will append this posting if I find something of interest to others.

Also, for those who have been assisting me with my diagnosis process (@ravenwoodglass, @skylark, @rosetapper and several others), I wanted to update you that today I had blood drawn for: total IgA serum, anti-endomysial (EMA) IgA and Vitamin D. I hope to determine whether I have an IgA deficiency. Also, I don't expect my EMA IgA test to be meaningful since I am now gluten-free, but since I only had anti-gliadin IgA tested before, it's more a point of curiosity. Plus, between eating some gluten pre-biopsy, and eating out way too much to successfully avoid all gluten, it is a half-hearted attempt to double-check my blood test.

My doctor was surprisingly receptive to doing the genetic testing and is going to code it so that my insurance understands it is important to evaluate (and will therefore cover it). She's also going to test me for SIBO (at my request). She mentioned that it is key to have a credible clinic/hospital perform the SIBO breath test because the results are subject to rampant diagnosis errors...interesting tidbit.

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