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Genetic Testing for DQ2.5, DQ2.2, DQ7.5, DQ8?! Provider HELP!

Confusedcelic
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Confusedcelic Rookie
Confusedcelic
Posted

Hi

I have had genetic testing and this is what was provided:

·        HLA-DQA1 - rs2187668, CC, DQ2.5

·        HLA-DQB1 - rs7454108, TT, DQ8

So negative for 2.5 and 8.

However on researching I have found that I also could test for 2,2 and 7/7.5 to be absolutely certain in ruling out my gluten sensitivity as being caused by celiac.

Can anyone tell me where to get testing that includes 2.2 and 7.

I have Googled so much and so confused.

Enterolab - seems they only do 2.5, 2.2 and 8 (but not 7/7.5)

Kimbal - when you click on their Website (from Google) nothing happens

Everyone else seems to only test 2.5 and 8 which I have had already.

Please help! :)

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knitty kitty Grand Master
knitty kitty
Posted

@Confusedcelic,

I'm confused now.  Those are genes that code for Celiac.

Paste each line into Google.

HLA-DQA1 - rs2187668

 HLA-DQB1 - rs7454108

RMJ Mentor
RMJ
Posted
15 hours ago, knitty kitty said:

@Confusedcelic,

I'm confused now.  Those are genes that code for Celiac.

Paste each line into Google.

HLA-DQA1 - rs2187668

 HLA-DQB1 - rs7454108

Those are the genes that code for susceptibility to Celiac disease IF they have certain alleles, but the listed results (CC and TT) are NOT the celiac-related alleles.

Sorry I don’t know where to get testing for the other HLA haplotypes, unless you want to go for whole genome sequencing.

Scott Adams Grand Master
Scott Adams
Posted

Sorry, but I don't know which labs might perform the specific tests for each gene that could be related to celiac disease.

The number of genes associated with celiac disease is more than two, but there are two main genes that are commonly tested for celiac disease susceptibility. These genes are HLA-DQ2 and HLA-DQ8.

  • HLA-DQ2: The majority of individuals with celiac disease (about 90-95%) carry the HLA-DQ2 gene.
  • HLA-DQ8: Around 5-10% of individuals with celiac disease have the HLA-DQ8 gene.
  • Other Genes: While HLA-DQ2 and HLA-DQ8 are the primary genes associated with celiac disease, having these genes doesn't guarantee that someone will develop celiac disease. Additionally, a small percentage of individuals with celiac disease don't have either of these genes. This suggests that other genetic factors may also play a role, though they are less common.

This article has more information about the genes associated with celiac disease:

 

 

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
21 hours ago, knitty kitty said:

@Confusedcelic,

I'm confused now.  Those are genes that code for Celiac.

Paste each line into Google.

HLA-DQA1 - rs2187668

 HLA-DQB1 - rs7454108

Those are not the only ones

 

There are 6 SNPs in total and I have had 2 and want to find somewhere that does the rest

 

DQ2.5 - rs2187668

DQ8 - rs7454108

DQ2.2/DQ4 - rs2395182 / rs7775228 /rs4713586

DQ7 - rs4639334

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
4 hours ago, Scott Adams said:

Sorry, but I don't know which labs might perform the specific tests for each gene that could be related to celiac disease.

The number of genes associated with celiac disease is more than two, but there are two main genes that are commonly tested for celiac disease susceptibility. These genes are HLA-DQ2 and HLA-DQ8.

  • HLA-DQ2: The majority of individuals with celiac disease (about 90-95%) carry the HLA-DQ2 gene.
  • HLA-DQ8: Around 5-10% of individuals with celiac disease have the HLA-DQ8 gene.
  • Other Genes: While HLA-DQ2 and HLA-DQ8 are the primary genes associated with celiac disease, having these genes doesn't guarantee that someone will develop celiac disease. Additionally, a small percentage of individuals with celiac disease don't have either of these genes. This suggests that other genetic factors may also play a role, though they are less common.

This article has more information about the genes associated with celiac disease:

 

 

I know the 2 main thanks but between 4 to 6& of people are negative for DQ2 and DQ8 and postive for DQ7 (see the Italian study below) and have celiac - hence my question only about where tests for the remaining genes as I have seen people on here stating they are DQ7 positive but not putting where they were tested for that.

 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580462/

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
6 hours ago, RMJ said:

Those are the genes that code for susceptibility to Celiac disease IF they have certain alleles, but the listed results (CC and TT) are NOT the celiac-related alleles.

Sorry I don’t know where to get testing for the other HLA haplotypes, unless you want to go for whole genome sequencing.

yes I was listed as being NEGATIVE for celiac on the results but they dont test everything so that is what I am looking for now

I know Neutrogenomix do the full 6 SNPs but only as part of a larger nutrition gene test, so before committing to something like that (as it will be duplicating a lot of what I paid for elsewhere) I wanted to see if anywhere just did the full celiac panel below (as I only have the 2 SNPs I posted)

DQ2.5 -rs2187668

DQ8 - rs7454108

DQ2.2/DQ4 - rs2395182, rs7775228, rs4713586

DQ7 - rs4639334

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Scott Adams Grand Master
Scott Adams
Posted

They will be discovering more of these markers in the future, they have not found them all yet, can I ask why it's so important for you to test for all of them? 

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS. It's not clear if people with NCGS would have any genes for it.

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
On 6/18/2024 at 11:17 PM, Scott Adams said:

They will be discovering more of these markers in the future, they have not found them all yet, can I ask why it's so important for you to test for all of them? 

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS. It's not clear if people with NCGS would have any genes for it.

I have already explained that in my initial post, negative for 2.5 and 8 but unless you also test 2.2 and 7/7.5 you cannot rule out celiac and ideally i would like to do that.

I am not sure why having certaintly /ruling out a serious auto immune seems a strange thing to want to ascertain when all it would take is an additional test.

I know I have NCGS at least but as I outlined my question is to be certain about celiac.

Scott Adams Grand Master
Scott Adams
Posted

I'm not sure if you read my replies either--not all genetic markers for celiac disease have been discovered, and more have been found only very recently. As far as I know there is currently no way to rule out celiac disease 100% via genetic testing alone.

knitty kitty Grand Master
knitty kitty
Posted

@Confusedcelic,

Have you done the anti-gluten antibody testing?

Were the results borderline?  High? Low? 

Endoscopy?

Nutritional deficiencies?

Other autoimmune diseases?

Current symptoms?

TaliaW Newbie
TaliaW
Posted

Hey Confusedcelic, 

What a great question! :) Glad to find a discussion on this topic. I am a gut-focused naturopath based in Australia and I have some patients I am wanting to test very thoroughly for coeliac disease. They have symptoms of coelaic and cannot gluten load due to the discomfort. I have been looking into this issue of which genes to test based on the latest research. Thanks for posting that study by Tinto, et.al (2015). There is also this short 2024 letter to the editor written by an team of gastroenterologists working at a clinic in Italy saying the same thing, that HLA DQ-7.5 is important to test, particularly in certain populations. Good to know. 

This is a link to the article - https://onlinelibrary.wiley.com/doi/10.1111/iji.12671 - and below is a quote from the article:

Quote

"However, in our experience, coeliac patients expressing only HLA-DQ7.5 do exist, and among coeliac patients diagnosed at our centre are roughly as common as those with only DQ8 or only DQ2.2. More precisely at our centre we have diagnosed 6 DQ7.5+, 6 DQ2.2+ and 4 DQ8+ coeliac patients. This may seem strange at first, but it might be explained by the very high frequency of the DQ7.5 haplotype in the Italian general population (26%), whereas DQ2.2 is less common (15%) and DQ8 is quite rare (2%) (Margaritte-Jeannin et al., 2004). These figures differ significantly from those of other populations, as data show a HLA-DQ7.5 prevalence of 17% in France (Margaritte-Jeannin et al., 2004), 11% in a European American population (Megiorni et al., 2009) and 10% in Scandinavia (Margaritte-Jeannin et al., 2004)".

I wonder if the company 23&me tests for it? I am not a genetics expert but I know you can send your saliva in, and then once processed, download your raw genetic data. You can then upload it to various servers including MTHFR Support, Livewello, or Genetic Genie and it will give you a report. I just don't know if those servers report on DQ-7.5. But I will ask some of my more genetically savy practitioner colleaugues and report back! 

TaliaW Newbie
TaliaW
Posted

Ah ha, found a 2019 study that looks at different testing kits and the if they include DQ-7.5 : https://pubmed.ncbi.nlm.nih.gov/31066583/

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
On 6/22/2024 at 3:16 AM, knitty kitty said:

@Confusedcelic,

Have you done the anti-gluten antibody testing?

Were the results borderline?  High? Low? 

Endoscopy?

Nutritional deficiencies?

Other autoimmune diseases?

Current symptoms?

No I dont want to do all that being negative for the main two markers when I can just test for the other 2 markers and if they are negative know that within reason I do not have celiac (and can just concentrate on NCGS)

16 hours ago, TaliaW said:

Ah ha, found a 2019 study that looks at different testing kits and the if they include DQ-7.5 : https://pubmed.ncbi.nlm.nih.gov/31066583/

oh thank you will have a look at this :)

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
17 hours ago, TaliaW said:

Hey Confusedcelic, 

What a great question! :) Glad to find a discussion on this topic. I am a gut-focused naturopath based in Australia and I have some patients I am wanting to test very thoroughly for coeliac disease. They have symptoms of coelaic and cannot gluten load due to the discomfort. I have been looking into this issue of which genes to test based on the latest research. Thanks for posting that study by Tinto, et.al (2015). There is also this short 2024 letter to the editor written by an team of gastroenterologists working at a clinic in Italy saying the same thing, that HLA DQ-7.5 is important to test, particularly in certain populations. Good to know. 

This is a link to the article - https://onlinelibrary.wiley.com/doi/10.1111/iji.12671 - and below is a quote from the article:

I wonder if the company 23&me tests for it? I am not a genetics expert but I know you can send your saliva in, and then once processed, download your raw genetic data. You can then upload it to various servers including MTHFR Support, Livewello, or Genetic Genie and it will give you a report. I just don't know if those servers report on DQ-7.5. But I will ask some of my more genetically savy practitioner colleaugues and report back! 

No they dont Ahmed El-Sohemy discusses how limited they are in a YouTube video (his company does the full testing I am after but not standalone its part of a huge nutritional testing barrage and I have most of the other tests)

17 hours ago, TaliaW said:

Hey Confusedcelic, 

What a great question! :) Glad to find a discussion on this topic. I am a gut-focused naturopath based in Australia and I have some patients I am wanting to test very thoroughly for coeliac disease. They have symptoms of coelaic and cannot gluten load due to the discomfort. I have been looking into this issue of which genes to test based on the latest research. Thanks for posting that study by Tinto, et.al (2015). There is also this short 2024 letter to the editor written by an team of gastroenterologists working at a clinic in Italy saying the same thing, that HLA DQ-7.5 is important to test, particularly in certain populations. Good to know. 

This is a link to the article - https://onlinelibrary.wiley.com/doi/10.1111/iji.12671 - and below is a quote from the article:

I wonder if the company 23&me tests for it? I am not a genetics expert but I know you can send your saliva in, and then once processed, download your raw genetic data. You can then upload it to various servers including MTHFR Support, Livewello, or Genetic Genie and it will give you a report. I just don't know if those servers report on DQ-7.5. But I will ask some of my more genetically savy practitioner colleaugues and report back! 

sorry I only saw the 2nd half of your comment intiailly on 23 and Me which I have resonded too so hopefully that helps! I am glad the discussion was of some help t to you. I also find Dr Peter Osborne useful on Gluten he has so many lectures on YouTube on Gluten!

Confusedcelic Rookie
Confusedcelic
Posted
  • Author
On 6/21/2024 at 10:48 PM, Scott Adams said:

I'm not sure if you read my replies either--not all genetic markers for celiac disease have been discovered, and more have been found only very recently. As far as I know there is currently no way to rule out celiac disease 100% via genetic testing alone.

I did I just think its off topic. I asked where to test what i am looking for. We dont know what we dont know.

Well right now allopathic doctors are telling people CATAGORICALLY they do not have celiac if they are negative for 8 and 2.5 - when we know that 2.2 and 7/7.5 are involved. There are multiple examples all over saying this categorical statement.

I am not going to worry right now about what we dont yet know. I have explained several times what i am looking for specifically and why. I would like to keep on topic about that. To the best of current knowledge testing negative on all 4 would within the current framework mean gluten senstivty is not celiac (bearing in mind most doctors would already tell me I am not celiac and can never be etc which my research tells me is wrong)

TaliaW Newbie
TaliaW
Posted

Hi, so I spoke to a colleague who has one patient who is 9 years old, and my colleague send them to the GP for coeliac testing here in Australia (the patient is in Queensland) for Coeliac Gene testing via their GP.  The lab they used was QML and the panel automatically tested DQ7.5 which was great as that was the one gene that came back positive and that child is absolutely thriving only 2 weeks into a gluten free diet. The child had had previously done many years of unsuccessful SOS feeding therapy and had an ARFID diagnosis, but is now eating more just 2 weeks into gluten-free. So that is good to know  at least one lab is using it in Australia and it is a free test. 

However, I am in Western Australia (a different state) and have rung two of the main labs here - Western Diagnostic Pathology and Clinipath - and they both do just DQ2 and DQ8. I will report back if I find out more.

TaliaW Newbie
TaliaW
Posted

For anyone following this thread, I spoke to a genetic data processing service called Livewello (https://livewello.com/about/dna-kits#order-kit) , and they said out of all the different companies that offer DNA testing (23&me, Ancestry, MyHeritage, etc), the only company that reports on HLA-DQ7.5 is Dynamic DNA (in Africa) and Livewello sell DNA testing directly for $169 USD that uses them.

I am still trying to work out if uploading 23&me data to the Livewello site and getting their 'gluten sensitivity report' achieves the same result, or if you have to use Dynamic DNA. Stay tuned.

TaliaW Newbie
TaliaW
Posted

Okay, so for anyone in Australia wanting to test HLA-DQ7 and DQ7.5, Helius Group labs - which includes Western Diagnostic Pathology, QML, TML, Dorevitch, Laverty, and Abbott pathlogy - all include HLA-DQ7 and DQ7.5 now. Here is a link to find your local Healius Group labs: https://www.healius.com.au/ 

Healius labs outsources all genetic testing to a company called Genomic Diagnostics. I rang them and confirmed they definitely test HLA-DQ7, HLA-DQ2.5, HLA-DQ2.2, and HLA-DQ8. It's not listed on their website yet as they haven't updated it but they do it and they are one of the main pathology providers in Australia which means it's a free test via the GP.  

For people in other countries (other than Australia), the main option I know of is to do a genetic test via the Livewello website - they are connected to Dynamic DNA (just to correct myself above, the Dynamic DNA lab is in the US, not Africa). Dynamic DNA raw data contains  DQ7 (rs4639334), and then Livewello includes it in it's coealic report. The cost is $169 USD. 

There are other companies that offer coelaic testing in the US that include HLA-DQ7, and three of those are discussed in this article:  https://pubmed.ncbi.nlm.nih.gov/31066583/

Scott Adams Grand Master
Scott Adams
Posted

We'll do an article on this topic so that it will be easier for people to find genetic testing companies.

  • 3 months later...
Jennie6308 Newbie
Jennie6308
Posted

Hi, I know this was posted earlier this year, but Quest labs just types you .. as in it just gives you your two A and two B alleles.

 

I came back positive for Celiac - DQ2.5 and positive for DQ7 which is getting some notice lately.  I'm also positive blood work, deficiencies, symptoms, mom has Celiac, etc... hope that helps if you're still looking.  You can order the test direct through Quest

  • 3 weeks later...
AnnaNZ Apprentice
AnnaNZ
Posted

Hi 'ConfusedCelic'. I was very interested to read your post and the letter from Prof. Federico Biagi you linked to. Blown away actually!

I am DQ7.5. I tested sero-negative for Celiac 10 days AFTER giving up gluten (August 2023) when I knew very little about this topic. I now know a whole lot. I am not game to do a gluten challenge. My body is still 'recovering'. I did my tests through my GP here in New Zealand although here the genetic result is termed differently which confused me for a while:

DQA1*05 and DQB1*03:01 (DQA1*05) = DEMONSTRATED

Relative risk for coeliac disease - VERY LOW

It seems to me that statistics can give you slanted views. Perhaps what this really means is, there are a low percentage of people generally with this gene combination rather than the genes giving a low risk of developing celiac disease.

The other thing that I found strange was, the letter and the work it referred to, talk about 'only having DQA1*05, not also having DQB1*02:01'. It doesn't seem surprising to me that there could be another combination of genes capable of causing celiac disease.

On a local facebook chat this month, 2 people stated that they had been diagnosed celiac 30 years ago via biopsy when they were 2 and 3 respectively, and they have now 'learned' via private testing companies that they 'aren't celiac after all'. Presumably, they were only tested for the 'common' types. I am astonished at how much disinformation goes on. I have pointed them to the letter from Prof. Federico Biagi.

Did you ever manage to complete the other genetic tests?

Denia Newbie
Denia
Posted

I used AlphaBiolabs.com and was tested for DQ2.2

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