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Gene Testing Results


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16 replies to this topic

#1 bincongo

 
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Posted 06 January 2011 - 12:20 PM

I am a Celiac and was diagnosed by biopsy. I never had gene testing done. My daughter just got her gene testing back and she is positive for the gene. Now I guess her next step is to have the antibody testing done. What I am interested in is whether she got the gene from only me or maybe her father also. Her father's mother had Lupus.
Her results are positive for DQ2. No DQ8. She has DQA1 0501 or 0505 and DQB1 0201 or 0202.
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Dx Celiac July 2010 by Endoscopy biopsy- had Endoscopy for another reason, not for possible Celiac
Lactose intolerant discovered August 2010
Hypothyroid Dx 2009. Sleep Apnea 2005

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#2 ravenwoodglass

 
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Posted 06 January 2011 - 01:57 PM

The only way to tell who she got that particular gene from would be to test everyone. Also people can be celiac and have neither DQ2 or DQ8. I am a double DQ9 and am firmly diagnosed.
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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)

#3 Mari

 
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Posted 06 January 2011 - 06:02 PM

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).
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HLA-DQ B allele 1 *0602: HLA-DQ B allele 2 *0302
Gluten free and Cow Dairy free since 2006

#4 bincongo

 
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Posted 10 January 2011 - 09:08 AM

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).

I will have to contact my daughter to see if there was more information but I didn't think there was. She did a mouth swab test and sent it to Kimbell. I just have a feeling that she may have inherited problems from her father since he has Lupus on his side but I do know she could have gotten everything from me. My sister is also DQ2 positive but does not test positive for Celiac yet but she has other autoimmune diseases.
  • 0
Dx Celiac July 2010 by Endoscopy biopsy- had Endoscopy for another reason, not for possible Celiac
Lactose intolerant discovered August 2010
Hypothyroid Dx 2009. Sleep Apnea 2005

#5 ravenwoodglass

 
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Posted 10 January 2011 - 12:24 PM

My sister is also DQ2 positive but does not test positive for Celiac yet but she has other autoimmune diseases.


Has your sister tried the diet despite the negative results? If not she may want to give it a shot. I also tested negative and had a lot of autoimmune disease that went into remission on the diet.
  • 0
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)

#6 bincongo

 
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Posted 12 January 2011 - 05:42 PM

Has your sister tried the diet despite the negative results? If not she may want to give it a shot. I also tested negative and had a lot of autoimmune disease that went into remission on the diet.

I have told my sister that she might feel better being gluten free with her other autoimmune diseases and her doctor said that too. She says she is partly gluten free in that she limits her gluten but not totally.
  • 0
Dx Celiac July 2010 by Endoscopy biopsy- had Endoscopy for another reason, not for possible Celiac
Lactose intolerant discovered August 2010
Hypothyroid Dx 2009. Sleep Apnea 2005

#7 Judy3

 
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Posted 12 January 2011 - 08:10 PM

From what I have studied about the genetics of the HLA DQ* genes which I have DQ2 and have been diagnosed as Celiac is that you get it from both parents. The genetic codes must match from each side to produce the genes. (I'm not a doctor just stating what I have researched on my own).
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*Judy

Food allergies to fish, seafood, tree nuts, aspartame(Equal),flax seed, and many drugs
Stomach issues since childhood
Hypoglycemia (low blood sugar) age 6-44
Diabetes age 44 to present now going back to Hypoglycemia since gluten free.
Diagnosed with Fibromyalgia in 2005 and it's gone now that I'm aspartame and gluten free. Hmmm
Celiac disease- negative test in 2009, positive tests in Nov. 2010
Gluten free started 11/08/2010
Genetic tests positive- DQ2, positive -DQ6 (?) negative- DQ8 11/15/2010

#8 Skylark

 
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Posted 12 January 2011 - 08:38 PM

She has DQA1 0501 or 0505 and DQB1 0201 or 0202.

I don't understand. She should have a total of 4 alleles, two DQA1 and two DQB1. Did you mean to say "and" rather than "or"? I am also very confused by the results because DQA1*0501 and DQB1*0201 are linked, meaning they are close on the chromosome and tend to be inherited as a unit from one parent. Together they form DQ2.5, a gene that is strongly associated with celiac. It is also associated with juvenile onset diabetes, Sjogren's syndrome, and the linked DR3 is associated with lupus. The thing that is confusing is that the remaining DQA1*0505 and DQB1*0202 are not usually inherited together. Are you sure those are the exact results?
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#9 Skylark

 
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Posted 12 January 2011 - 08:59 PM

From what I have studied about the genetics of the HLA DQ* genes which I have DQ2 and have been diagnosed as Celiac is that you get it from both parents. The genetic codes must match from each side to produce the genes. (I'm not a doctor just stating what I have researched on my own).

Not exactly. You can get it from either parent, or from both. If you are so-called "double DQ2" it means you got a copy from each parent. It's quite possible to get celiac with a gene from one parent, or as Ravenwoodglass likes to point out, no "celiac" genes at all.
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#10 ravenwoodglass

 
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Posted 13 January 2011 - 07:19 AM

Not exactly. You can get it from either parent, or from both. If you are so-called "double DQ2" it means you got a copy from each parent. It's quite possible to get celiac with a gene from one parent, or as Ravenwoodglass likes to point out, no "celiac" genes at all.

Yes celiac is neither recessive or dominant and does not require two copies of the gene to be present like some genetic disorders. You can be celiac with only one copy from one parent.
Yea I am rather a fanatic about folks not always needing the recognized genes. I guess I will never 'get over' my DD's diagnosis being recinded. I am also sooo very thankful they didn't do gene testing on me until long after I was diagnosed. If they had I likely wouldn't be here posting today.
  • 0
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)

#11 nora_n

 
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Posted 13 January 2011 - 08:29 AM

Aboutthe weird results, I think I understand what happened.

They just tested for the presence of 05* and 02*.

The 02 in the beta chain may mean either DQ2,5 (which has 05* in the alpha chain) (and ther are two forms of DQ2,5, the cis and the trans, and the latter is made from DQ7,5 (shich has a 05* alpha chain) and DQ2,2)

or DQ2,2 which has 02 in the alpha chain. (but if one has another gene with a 05* alpha chain, like DQ7,5, they make up DQ2,5 in trans)

So the genes may be with this type of testing
either:

1.HLA DQ2,5 homozygous in cis (two of them) 2x 0501 in alpha, 0201 in beta

2.HLA DQ2,5 heterozygous in cis (just one copy) 0501 in alpha, 0201 in beta

3. HLA DQ2,5 in trans (just one copy possible) made up from DQ7 and DQ2,2.
DQ7,5 is 0505 in alpha, 0301 in beta
DQ2,2 is 0201 or 0301 in alpha, 0202 in beta .

So this is just a quick way of testing for the presence of DQ2,5 in either cis or trans.
  • 0
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)

#12 bincongo

 
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Posted 13 January 2011 - 08:47 AM

Good Gosh, I don't know how you guys figure these things out. I am going to send all your comments to my daughter. I guess the basic question I have is does anyone know if she could have inherited a gene from her father. I know I am Celiac and my sister has the DQ2 gene but is not yet Celiac. I guess I am hoping my husband will get testing if I had something to tell him along those lines.
  • 0
Dx Celiac July 2010 by Endoscopy biopsy- had Endoscopy for another reason, not for possible Celiac
Lactose intolerant discovered August 2010
Hypothyroid Dx 2009. Sleep Apnea 2005

#13 Skylark

 
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Posted 13 January 2011 - 12:04 PM

That makes sense, Nora.

Bincongo, the celiac genes came from either you, her father, or possibly both of you combined (half a celiac gene from one of you, half from her father). There is no way to tell who contributed which genes. If I were you I'd go really simple. Tell your husband that the way the test was done, it shows that your daughter has at least one celiac gene and possibly two. He has at least a 50% chance of having a celiac gene and needs to be tested.

(This is not strictly accurate but it's actually almost impossible to calculate the probability of him having a celiac gene from those particular testing results. ;) )
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#14 CMCM

 
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Posted 17 January 2011 - 01:12 PM

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).


Can anyone explain more about the above? Celiac disease runs thru my family. My mom has double celiac genes. Many in my family got tested via Enterolab. We want to find out what my father's 2nd gene was (from my test we know one of them...DQ1 0604, which is a gluten sensitivity related gene), and my sister got a gene test thru Kaiser, which would hopefully reveal what our dad's 2nd gene was. She said the results related to her by Kaiser were stated this:
I am in DQ2
A105
B102
Both of these could have come from mom too I was told! 40% of people with this profile are prone to celiac.

What???????

Our mom got tested at Enterolab, where she learned she has DQ2 0201 + 0201 (two identical celiac genes, one from her mother, the other from her father). I can't figure out how this relates to my sister's oddly stated gene results mentioned above. Her statement that both of these could have come from our mom...that doesn't make sense to me as one is from the father and one from the mother. Through our mom's testing,, we KNOW all the kids got one of the 0201 genes. Since our mom has double identical genes, how could one or the other have come from her, having two identical genes she has only one possibility to give to us all. And which of those above genes equate to our mom's DQ2 0201 gene? Is this result saying our Dad's 2nd gene was also a DQ2 celiac gene, just a different type than our mom's?

Any ideas/input?
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CAROLE

-------------
Enterolab 1/2006
IgA & tTg Positive
DQ2-0201 (celiac) and DQ1-0604 (gluten)
Casein IgA positive
Mom has 2 celiac genes
Both kids have a celiac gene.
Lots of celiac disease in my family, both sides.

#15 nora_n

 
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Posted 18 January 2011 - 02:40 AM

This means alpha chain 05* and beta chain 02*, same answer as mina above, this is DQ2,5 cis or trans, and they did not test all the way, just enough to tell if there was some kind of DQ2,5.
So now that you know your motherīs double DQ2,5 cis genes, this testing is completely worthless (meaning the test did not tell you anything new) since all children will have at least one copy of DQ2,5 cis.

Several other labs tell you exactly what alpha and beta chains you have.

Which reminds me, some people have posted here that they contacted the lab, asking for more specific results, and they did get the complete results.
That is because lots and lots of doctors get absolutely confused by the proper results, like 0501 in the alpha chain and 0201 in the beta chain or any other DQ result...they cannot decipher them so some labs just say if it is positive for A105* and B102* (which means alpha chain 05* and beta chain 02*, which means DQ2,5)
  • 0
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)




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