Quest Diagnostics HLA-typing... confusing to read

[pjbenson97]

I currently have a myriad of symptoms that seem to align with celiac disease. I got bloodwork done and it was negative (although not sure if I was eating enough gluten to trigger anything). I ended up getting HLA-typing done through Quest Diagnostics and my doctor told me that the results below rule out celiac:

 

HLA DQ2
Negative
 
HLA DQ8
Negative
 
HLA VARIANTS DETECTED: HLA DQA1*
01
 
HLA DQA1*
05
 
HLA DQB1*
0301
 
HLA DQB1*
0602

 

However, the test summary for HLA typing says this on the Quest Diagnostics site:

  Quote

Negative results for both HLA-DQ2 and HLA-DQ8 virtually exclude the diagnosis of celiac disease and indicate an extremely low risk for subsequent development of the disease (≥95% negative predictive value). In rare cases, however, when DQ2 and DQ8 heterodimers are negative, the presence of 1 of the DQ2 alleles (eg, either DQA1*05 or DQB1*02) is consistent with a diagnosis of celiac disease.

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So... doesn't my test say I have HLA-DQA1*05? It says I have a variant detected... am I incorrect in how I'm interpreting this? I'm very lost and my doctor seems to think nothing of this variant. Since so far I've been seronegative, I'm trying to figure out if a gluten challenge before testing again makes any sense. Thanks in advance!

[trents]

  On 2/14/2022 at 9:00 PM, pjbenson97 said:

I currently have a myriad of symptoms that seem to align with celiac disease. I got bloodwork done and it was negative (although not sure if I was eating enough gluten to trigger anything). I ended up getting HLA-typing done through Quest Diagnostics and my doctor told me that the results below rule out celiac:

 

HLA DQ2
Negative
 
HLA DQ8
Negative
 
HLA VARIANTS DETECTED: HLA DQA1*
01
 
HLA DQA1*
05
 
HLA DQB1*
0301
 
HLA DQB1*
0602

 

However, the test summary for HLA typing says this on the Quest Diagnostics site:

So... doesn't my test say I have HLA-DQA1*05? It says I have a variant detected... am I incorrect in how I'm interpreting this? I'm very lost and my doctor seems to think nothing of this variant. Since so far I've been seronegative, I'm trying to figure out if a gluten challenge before testing again makes any sense. Thanks in advance!

Expand Quote  

You could also have NCGS (Non Celiac Gluten Sesitivity) which has many of the same symptoms as celiac disease but for which there is no test available. But NCGS is 10x more common than celiac disease.

[pjbenson97]

  On 2/14/2022 at 9:13 PM, trents said:

You could also have NCGS (Non Celiac Gluten Sesitivity) which has many of the same symptoms as celiac disease but for which there is no test available. But NCGS is 10x more common than celiac disease.

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Yeah I'm wondering if that's a possibility here. I'm just confused by these results - I mean, I'm not crazy in reading that and seeing that I *do* have one of the alleles... right? These results are confusing to read on the Quest website.

[trents]

  On 2/14/2022 at 9:00 PM, pjbenson97 said:

I currently have a myriad of symptoms that seem to align with celiac disease. I got bloodwork done and it was negative (although not sure if I was eating enough gluten to trigger anything). I ended up getting HLA-typing done through Quest Diagnostics and my doctor told me that the results below rule out celiac:

 

HLA DQ2
Negative
 
HLA DQ8
Negative
 
HLA VARIANTS DETECTED: HLA DQA1*
01
 
HLA DQA1*
05
 
HLA DQB1*
0301
 
HLA DQB1*
0602

 

However, the test summary for HLA typing says this on the Quest Diagnostics site:

So... doesn't my test say I have HLA-DQA1*05? It says I have a variant detected... am I incorrect in how I'm interpreting this? I'm very lost and my doctor seems to think nothing of this variant. Since so far I've been seronegative, I'm trying to figure out if a gluten challenge before testing again makes any sense. Thanks in advance!

Expand Quote  

You could also have NCGS (Non Celiac Gluten Sesitivity) which has many of the same symptoms as celiac disease but for which there is no test available. But NCGS is 10x more common than celiac disease.

Edit: The only genes that I am aware of that have been definitely tied to celiac disease are DQ2, DQ8 and maybe DQ9 (this last one is a new discovery and I'm not sure it has been vetted).

Edited February 14, 2022 by trents

[kiriaussie]

  On 2/14/2022 at 9:00 PM, pjbenson97 said:

I currently have a myriad of symptoms that seem to align with celiac disease. I got bloodwork done and it was negative (although not sure if I was eating enough gluten to trigger anything). I ended up getting HLA-typing done through Quest Diagnostics and my doctor told me that the results below rule out celiac:

 

HLA DQ2
Negative
 
HLA DQ8
Negative
 
HLA VARIANTS DETECTED: HLA DQA1*
01
 
HLA DQA1*
05
 
HLA DQB1*
0301
 
HLA DQB1*
0602

 

However, the test summary for HLA typing says this on the Quest Diagnostics site:

So... doesn't my test say I have HLA-DQA1*05? It says I have a variant detected... am I incorrect in how I'm interpreting this? I'm very lost and my doctor seems to think nothing of this variant. Since so far I've been seronegative, I'm trying to figure out if a gluten challenge before testing again makes any sense. Thanks in advance!

Expand Quote  

Hi, 

I recently had the same test done by quest and had the same confusion reading the results. I didn't know that they specified the variant but I have compared your results to mine, and mine are different numbers. 
 

HLA DQ2 Negative

HLA DQ8 Negative

HLA VARIANTS DETECTED: HLA DQA1* 01

HLA DQA1* 01

HLA DQB1* 0503

HLA DQB1* 0602

It does seem like the HLA DQA1* line could be listing the variant. This is helpful for me because I was also wondering what variant I had! It looks like maybe I have DQ1? I am not sure if this is a correct interpretation either. I even had my friend who is a Nurse Practitioner look over it and she couldn't interpret it. 

I will say, as you can see I tested negative to the two major genes which is supposed to rule out celiac. However I had the celiac panel done anyway and I came up positive for one of the antibodies - DGP IGG! It does seem like genes alone are not enough to rule out celiac. If your dr doesn't want to order the test and you still suspect celiac and want to be sure, I used imaware's at home celiac screening. It is a finger prick test where you send a blood sample in to the lab and it is reviewed by a dr etc. It is not one of these unreliable home tests, it gives official results you can take to your dr. 

[pjbenson97]

  On 2/16/2022 at 7:39 PM, kiriaussie said:

Hi, 

I recently had the same test done by quest and had the same confusion reading the results. I didn't know that they specified the variant but I have compared your results to mine, and mine are different numbers. 
 

HLA DQ2 Negative

HLA DQ8 Negative

HLA VARIANTS DETECTED: HLA DQA1* 01

HLA DQA1* 01

HLA DQB1* 0503

HLA DQB1* 0602

It does seem like the HLA DQA1* line could be listing the variant. This is helpful for me because I was also wondering what variant I had! It looks like maybe I have DQ1? I am not sure if this is a correct interpretation either. I even had my friend who is a Nurse Practitioner look over it and she couldn't interpret it. 

I will say, as you can see I tested negative to the two major genes which is supposed to rule out celiac. However I had the celiac panel done anyway and I came up positive for one of the antibodies - DGP IGG! It does seem like genes alone are not enough to rule out celiac. If your dr doesn't want to order the test and you still suspect celiac and want to be sure, I used imaware's at home celiac screening. It is a finger prick test where you send a blood sample in to the lab and it is reviewed by a dr etc. It is not one of these unreliable home tests, it gives official results you can take to your dr. 

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Yeah I'm definitely thinking that the line saying the variants detected is just saying how many variants were found. Then the HLA DQA1* line actually tells you your variant. The Quest Diagnostics results are so difficult to read for no reason!

Interestingly enough, I did the imaware test but it came back negative. This was after on and off of eating either no gluten or very little gluten, which I think skewed my results. All my values (tTG-IgA, tTG-IgG, DGP-IgA) came back bottomed out. The only one ever so slightly elevated was DGP IgG! Not positive, but again I think I messed up my own results. I plan on doing a gluten challenge and revisiting the full panel, as I have been tested twice in the past on my normal diet but the only thing I was tested for was IgA the first time and then tTG-IgA and IgA the second time.

[trents]

  On 2/16/2022 at 7:59 PM, pjbenson97 said:

Yeah I'm definitely thinking that the line saying the variants detected is just saying how many variants were found. Then the HLA DQA1* line actually tells you your variant. The Quest Diagnostics results are so difficult to read for no reason!

Interestingly enough, I did the imaware test but it came back negative. This was after on and off of eating either no gluten or very little gluten, which I think skewed my results. All my values (tTG-IgA, tTG-IgG, DGP-IgA) came back bottomed out. The only one ever so slightly elevated was DGP IgG! Not positive, but again I think I messed up my own results. I plan on doing a gluten challenge and revisiting the full panel, as I have been tested twice in the past on my normal diet but the only thing I was tested for was IgA the first time and then tTG-IgA and IgA the second time.

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Keep in mind that having the genes only establishes potential for celiac disease. It does not guarantee you have it or will ever get it. About 40% of the population have the genetic potential but only about 1% have celiac disease. It takes a gene or genes and some triggering stress event such as a viral infection to activate the genes.

Edited February 16, 2022 by trents

[pjbenson97]

  On 2/16/2022 at 8:19 PM, trents said:

Keep in mind that having the genes only establishes potential for celiac disease. It does not guarantee you have it or will ever get it. About 40% of the population have the genetic potential but only about 1% have celiac disease. It takes a gene or genes and some triggering stress event such as a viral infection to activate the genes.

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Yeah, I just figured that since I have part of a gene that it's still possible. I believe a paper said I have a .05% chance of getting it still. However, my doctor used this as a "you definitely do not have it" kind of thing, which I think seems out of place.

[trents]

  On 2/16/2022 at 8:24 PM, pjbenson97 said:

Yeah, I just figured that since I have part of a gene that it's still possible. I believe a paper said I have a .05% chance of getting it still. However, my doctor used this as a "you definitely do not have it" kind of thing, which I think seems out of place.

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I would agree with your conclusion. I think we don't yet know all there is to know about the genetics involved in celiac disease.

[knitty kitty]

This article will help.  It mentions the genetic variables you both have listed in your posts.

 

"Genetic susceptibilty and celiac disease: what role do HLA haplotypes play?"

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502200/