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DNA Testing

Jessi Leigh

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Jessi Leigh Newbie
Jessi Leigh
Posted

What exactly does a "low likelihood" dna test mean?  I've asked for a print out of the results, but my Dr hasn't responded.  I've heard mixed things- might be positive for one allele and not another?  I've exhibited all the symptoms for years, but my new doc did the dna test.  He's an RA, btw, and is not experienced with celiac.

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Jmg Mentor
Jmg
Posted

Obviously you need to pin that Doctor down and get a straight answer but I think genetics testing can only exclude, not diagnose:

Quote

   Therefore, the celiac disease gene tests are mainly useful to rule out celiac disease in cases where Open Original Shared Link are present. 

Open Original Shared Link

So if it's low liklihood that sounds like it's not excluded celiac, just that you may not have the optimum pairings of genes for highest risk:

Open Original Shared Link

Even if the genetics tests excludes celiac you can still have gluten intolerance! 

Best of luck :)

GF-Cheetah Cub Contributor
GF-Cheetah Cub
Posted

I probably should leave your question to the experts, but I am going to answer it anyway...

My understanding is that there are two genetic markers that can cause celiac disease in a person.  They are DQ2 and DQ8.   If you are not a carrier of DQ2 or DQ8, you will not develop celiac disease.   If you do carry these genes, you still may not have celiac, but have the potential for it.

There are different DQ Genotypes that carry different degree of risks for developing celiac disease.

I am going to guess that you do carry the DQ2 or DQ8 gene, but one of the lower risk version known to develop into celiac disease.  

Since (or if you indeed) you carry the gene, I think you should schedule an endoscopy and to confirm or rule out the actual disease.

 

workingk9 Newbie
workingk9
Posted
On 6/18/2016 at 2:27 AM, gluten-free-Cheetah Cub said:

I probably should leave your question to the experts, but I am going to answer it anyway...

My understanding is that there are two genetic markers that can cause celiac disease in a person.  They are DQ2 and DQ8.   If you are not a carrier of DQ2 or DQ8, you will not develop celiac disease.   If you do carry these genes, you still may not have celiac, but have the potential for it.

There are different DQ Genotypes that carry different degree of risks for developing celiac disease.

I am going to guess that you do carry the DQ2 or DQ8 gene, but one of the lower risk version known to develop into celiac disease.  

Since (or if you indeed) you carry the gene, I think you should schedule an endoscopy and to confirm or rule out the actual disease.

 

I am curious about this. My sister has biopsy confirmed celiac disease and my niece (not my sister with celiac's daughter, but a different sister's daughter) also has biopsy confirmed celiac disease. I am negative for rs7454108 (HLA-DQ8) and rs2187668 (HLA-DQA1), but I am homozygous for rs842647 (REL) and rs601338 (FUT2) and heterozygous for many ICOS genes and a couple other genes associated with celiac disease risk.  According to this article--  Open Original Shared Link

*Most* people with celiac disease will have HLA polymorphisms, *but* new studies are showing a correlation with polymorphisms in other genes and celiac disease.  Open Original Shared Link

I have an appt with a GI on June 27th to see if I have celiac disease or gluten sensitivity and to ask about the gene issues. 

I am new to the board. Am overwhelmed with the info. I don't want to hijack this thread so I will start a new one with regards to my symptoms and history. 

 

Carey

Jessi Leigh Newbie
Jessi Leigh
Posted
  • Author

I got the print out and took it to my new dr because what my RA was saying didn't seem to add up.  When I pressed him for more info, he said I didn't have any of the markers. Turns out he read the test wrong!  Since then, my new doc also questioned all my previous bloodwork and asked why I hadn't been told that my counts were really low or tested for ferritin levels. My ferritin was at 10, so, yeah, 4 other Dr's missed anemia on my labs. It's been frustrating to say the least, but I am finally feeling a little bit hopeful with my new primary doc. She's just referred me to a specialist focusing on celiac. Considering my former gp told me "that whole celiac thing is just a fad", I'm feeling a bit more secure. 

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    • StuartJ
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      Unfortunately, the development of celiac disease usually is not an end in and of itself. It usually brings along friends, given time. It is at heart an immune system dysfunction which often embraces other immune system dysfunctions as time goes on.
    • Celiacpartner
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