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Genetic Test- Results


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9 replies to this topic

#1 Simona19

 
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Posted 19 September 2010 - 12:07 PM

I got my son's resutls from the genetic test which is:

HLA-DQ2 (DQA*05/DQB1*02) Positive
HLA-DQ8 (DQA*03/DQB1*0302) Negative

HLA-DQA1* 05
HLA-DQA1* -
HLA-DQB1* 0201
HLA-DQB1* 0301

Note: The patient has one of the HLA-DQ variants associated with celiac disease. More than 97% of celiac patients carry either HLA-DQ2 (DQA1*05/DQB1*02) or HLA-DQ8 (DQA1*03/DQB1*0302) or both. However, 39% of the general U. S. population carry these HLA-DQ variants, as a consequence, the presence of HLA-DQ2 or DQ8 or both variants is not per se diagnostic of celiac disease.

:huh: :huh: Is 0201 same as 02 on top?


My genetic test is:

HLA- DQ2 (DQA*05/DQB1*02) negative
HLA- DQ8 (DQA*03/DQB1*0302 negative
HLA- DQA1* 01
HLA- DQA1* 05
HLA- DQB1* 0301
HLA- DQB1* 0502

In the both results I can see HLA-DQA1*05. I have just a half a gene DQ2 and my son have the whole gene DQ2.

I would like to ask you, if anybody knows which side of our family members gave us that gene(I mean father, or mother side)? Can you even tell?
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#2 cassP

 
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Posted 19 September 2010 - 02:26 PM

alrighty, hopefully a moderator or more knowledgeable member than me will chime in because i THINK i get it- BUT these gene numbers/language is very hard to translate.

i THINK your son has 1 DQ gene: DQ 2.5 (which ive read is THEE most classic celiac gene)

and then i THINK you have 2 DQ genes: DQ1 and DQ5 (they're not "classic" but new studies, including out of europe say all the DQ genes have Celiac possibilities.

so, that is my GUESS at translating this. and im thinking your son's father has a DQ2 gene.

?? hope i got it right ??
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1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

#3 Simona19

 
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Posted 19 September 2010 - 05:33 PM

alrighty, hopefully a moderator or more knowledgeable member than me will chime in because i THINK i get it- BUT these gene numbers/language is very hard to translate.

i THINK your son has 1 DQ gene: DQ 2.5 (which ive read is THEE most classic celiac gene)

and then i THINK you have 2 DQ genes: DQ1 and DQ5 (they're not "classic" but new studies, including out of europe say all the DQ genes have Celiac possibilities.

so, that is my GUESS at translating this. and im thinking your son's father has a DQ2 gene.

?? hope i got it right ??

It's mean that he needs to be tested? He does have the hypothyroidism and high blood pressure (in his case it is genetic, his father and mother both have it. He - from 24 years of age).
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#4 cassP

 
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Posted 19 September 2010 - 06:41 PM

It's mean that he needs to be tested? He does have the hypothyroidism and high blood pressure (in his case it is genetic, his father and mother both have it. He - from 24 years of age).


"he" as in your husband? having at least 1 DQ 2 gene doesnt mean he has it, but he does have the potential. many celiacs dont have any symptoms. if your husband is regularly ingesting gluten-> then it couldnt hurt at all to get a blood test!
oh, actually- if your son has it- then all 1st degree relatives should absolutely get tested.
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1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

#5 Simona19

 
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Posted 20 September 2010 - 09:15 AM

"he" as in your husband? having at least 1 DQ 2 gene doesnt mean he has it, but he does have the potential. many celiacs dont have any symptoms. if your husband is regularly ingesting gluten-> then it couldnt hurt at all to get a blood test!
oh, actually- if your son has it- then all 1st degree relatives should absolutely get tested.


When I told my husband that he should get tested too, he was so shocked. He is against the all tests. I gave him to try some of my gluten free and milk free substitutes. It was priceless to see his reaction. Some of them are very, very, very bad. He don't want to even think about going on gluten free diet. This is funny.

I was checking Hla-DQ1 in Wikipedia and there are always talking about alleles DQA1*0101, DQA1*0102 - 0103 -0104.
I have only DQA1*01 and the other half DQB1*0502 which can be the part of DQ1. I need to have DQA1*0102:DQB1*0502 to have HLA-DQ1. Is this true?
Is HLA-DQ1 gene to be considered for celiac disease? Why The Quest laboratory didn't included all known variants for celiac disease?
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#6 ravenwoodglass

 
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Posted 20 September 2010 - 10:03 AM

I also think he got the DQ2 from Dad and yes he should be tested. As should, if you are diagnosed, your brothers and sisters and Mom and Dad. If you have any other children they should be tested also.
There is a lot of really tasty gluten free food out there. Have him try some Snyder's pretzels, Pamelas Double chocolate chunk cookies, A pizza made with Gluten Free Pantries French Bread Mix to name just a couple. Don't even tell him the stuff is gluten free just put it in front of him. When I first went gluten free, for example, the only bread I could find was Ener-g, it has the consistance of styrofoam,IMHO and I didn't even know to microwave or toast it. Yes that stuff was disgusting. Again in my opinion for you Ener-g bread lovers. Now they have bread like Grainless Baker, UDI, Kinnickkinnick and more and better baked goods every day.
Make your dinners gluten free, you DH doesn't even have to know. So many regular dinner items can be made gluten-free or are naturally so that you should be able to do it without him noticing. Then after a couple weeks ask him how he likes your cooking lately. When it gets the rave reviews then let him know they were all gluten free. After some steak and potatos, chicken are rice, fish and homemade fries, stuffed peppers, parmesan oven baked chicken etc. he might change his mind on how horrible the diet is.
As to whether or not the DQ1... is a celiac associated gene, well it is in my case. My gene is DQB1 0303 or also called DQ9. Companies in the US generally only test for the two most recognized celiac genes. There are actually many more. It used to be considered to be 9 that were associated with celiac new research is looking at as many as 27. Gene testing does not diagnose celiac or tell you that you have it. It is simply part of the puzzle but not the end piece.
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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#7 cassP

 
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Posted 20 September 2010 - 10:20 AM

yes- everything that ravenwood said :D

im sorry, but all of those allelle numbers and complete gene numbers really confuse me.
i wish they would always just translate it simply for me.

my understanding is that DQ2 & DQ8 account for nearly 95% of Celiac cases. AND i believe that there's about 27 DQ genes that all have potential and possibility for Celiac. companies in america just dont test for all of them yet.

everyone in your family should be tested. (like i HOPE for everyone in my family to be tested.)
undiagnosed celiac can POTENTIALLY lead to a lot of unneccesary illness & even premature death-> our families should get tested so they can be around for a long time :)
  • 0
1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

#8 nora_n

 
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Posted 24 September 2010 - 12:17 PM

Son must be DQ7,5 and DQ2,5, and you are DQ7,5 but they did not tell you that.
They did not report the other 05* alpha chain, they just reported positive for 05 and often labs report it this way.
We know he must be double 05* in the alpha alleles since you have the DQ7,5.

See the other answer on this forum here, the other lab did report the DQ7,5 as half a DQ2 gene. (the 05* alpha chain is half a DQ2,5 gene and it contributes more to celiac than just the 02 part)

Of course father has a DQ2,5, at least one.
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gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#9 ddennis11

 
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Posted 25 November 2010 - 04:40 AM

I got my son's resutls from the genetic test which is:

HLA-DQ2 (DQA*05/DQB1*02) Positive
HLA-DQ8 (DQA*03/DQB1*0302) Negative

HLA-DQA1* 05
HLA-DQA1* -
HLA-DQB1* 0201
HLA-DQB1* 0301

Note: The patient has one of the HLA-DQ variants associated with celiac disease. More than 97% of celiac patients carry either HLA-DQ2 (DQA1*05/DQB1*02) or HLA-DQ8 (DQA1*03/DQB1*0302) or both. However, 39% of the general U. S. population carry these HLA-DQ variants, as a consequence, the presence of HLA-DQ2 or DQ8 or both variants is not per se diagnostic of celiac disease.

:huh: :huh: Is 0201 same as 02 on top?


My genetic test is:

HLA- DQ2 (DQA*05/DQB1*02) negative
HLA- DQ8 (DQA*03/DQB1*0302 negative
HLA- DQA1* 01
HLA- DQA1* 05
HLA- DQB1* 0301
HLA- DQB1* 0502

In the both results I can see HLA-DQA1*05. I have just a half a gene DQ2 and my son have the whole gene DQ2.

I would like to ask you, if anybody knows which side of our family members gave us that gene(I mean father, or mother side)? Can you even tell?



My daughter has exactly the same results as your son. Did you figure out what the last for lines of the testing represents? She is negative on all the screenings but low Immunologlbun A and high gladian antibodies IGG
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#10 Celiac Ninja

 
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Posted 26 February 2013 - 06:34 AM

I've been reading up on HLA-DQ8 and DQ2, there appears to be one disease that could mask itself as celiac. That's schmidt's disease. Very similar symptoms between the two. I've had two celiac panels and my igg and iga were showing autoimmune disease. Schmidt's is also an autoimmune http://en.wikipedia....chmidt_syndrome  Heres the long list including celiac disease http://en.wikipedia....oimmune_disease

 

I am interested in getting re tested, being gluten free has helped but I'm still really suffering daily, as if I can't keep up. Been on a gluten free diet for 6-7 years. Diagnosed after I have lymphona cancer. My blood pressure is and always has been abnormally low but my heart is strong and healthy. I do have hypoglycemia, dizziness and numbness on a regular basis even when I do not have cross contamination from gluten. The first sign of cross contamination is the bubbles building in my mouth by my tonsils, then the whole digestive reaction happens. I could vry well have celiac disease and I do not want to risk a "test" to see if I'm wrong (eating gluten), but I do have very weak hormone production/balance and low energy which I counter act with sugar. I've given up the coffee.

 

So I want to get re tested and talk about this. Not sure where to begin though?


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