Genetic Test Results

[JustMe75]

My doctor didn't know what the results mean, so I thought I'd ask here. I know I have the DQ2 but what does the rest mean?

HLA-DQB1 02(DQ2)

HLA-DQB1 - (DQ-)

HLA-DQ2 Positive

HLA-DQ8 Negative

Says below: Serologic equivalent is given between parentheses

The (-) indicates homozygosity or unidentified allele

all of the results were in the "In Range" column

Anyone understand this?

[nora-n]

It just means that the other beta allele was negative for DQ2 or DQ8.

They did not test for which DQ type it was.

(In the thread here is a wiki link that explains the DQ types (nor so much on topic, but)...Open Original Shared Link )

nora

[JustMe75]

Ok, thank you. I was reading a little and looked up "homozygosity" and read that it means "The state of possessing two identical forms of a particular gene, one inherited from each parent". But the results say its either that or an unidentified allele. So I wasn't sure if that meant I had double DQ2 or an unidentified one. Soo confusing!

[JustMe75]

Sorry... more questions. I now have my daughters' genetic results in hand and one of them is exactly like mine and the other says HLA-DQ2 and HLA-DQ5. I am stilll wondering what the (-) means on mine and my youngest daughters results. I tried calling the lab and they said they can't talk to me only the doctor and my doctor is cluless when it comes to this.

Has anyone else seen that on their results? The "(-) indicates homozygosity or unidentified allele" part? If that means its homozygosity thats double DQ2, right? Or if its unidentified allele, why is it unidentified? Would they really not test which type it is or is it an unknown allele? I figured maybe when they see one positive they just didn't test the other but they did on my older daughters, the DQ5.

Also, I have seen some stuff on what the other DQ's make you more susceptable to, what is the 5?

I was just curious if it is double does that mean all my kids would get the DQ2 from me for sure? Do they get one from each parent and if the parent is double then there is no other option? If my youngest is double too does that mean her dad has a DQ2 too?

I am really sorry for asking so many questions. I just feel like I have no where else to get any answers but here and I am a little bit obsessive (understatement of the year ) and need to understand this.

[nora-n]

Sorry... more questions. I now have my daughters' genetic results in hand and one of them is exactly like mine and the other says HLA-DQ2 and HLA-DQ5. I am stilll wondering what the (-) means on mine and my youngest daughters results. I tried calling the lab and they said they can't talk to me only the doctor and my doctor is cluless when it comes to this.

Has anyone else seen that on their results? The "(-) indicates homozygosity or unidentified allele" part? If that means its homozygosity thats double DQ2, right? Or if its unidentified allele, why is it unidentified? Would they really not test which type it is or is it an unknown allele? I figured maybe when they see one positive they just didn't test the other but they did on my older daughters, the DQ5.

--------------

I was just curious if it is double does that mean all my kids would get the DQ2 from me for sure? Do they get one from each parent and if the parent is double then there is no other option? If my youngest is double too does that mean her dad has a DQ2 too?

Yes, it is weird since they say 5 (DQ5 is a subtype of DQ1, and the alpha allele is 0101 and the beta is 05* or *05 I do not remember which, and there are lots of very gluten sensitive persons on the internet with DQ1) and they printed a - so I thought it meant it was negative for DQ2 or 8, just like my test was.

Yes, they get one from you and one from the father.

And, some people have half celiac genes, like just the 0202 in the beta allele without the 0501 in the alpha or what ever it is supposed to be.

More on the wikipedia page on DQ, and some pubmed abstracts where they say that some celiacs only have half the gene.

But I have no idea if that is what the lab means.

Confusing.

Open Original Shared Link

nora

[JustMe75]

I called the pediatricians office and spoke with a doctor (ours was out) and she said it is a vague answer and she would leave a note for our doc to call the lab for an explaination.

thanks!

[nora-n]

Maybe if you post which lab did the gene tests, someone might know how they report the test results. I have read here that many labs only test positive or negative for DQ2 or DQ8 so I assumed your results were positive or negative for DQ2 or 8.

Maybe they report DQ5 as well, and leave - whern it is negative for DQ2, 8, or 5, I do not know. Have not seen things like that here.

My blood was only tested for DQ2 or 8.

nora

[JustMe75]

Thank you for all your answers Nora. The tests were done at Quest Diagnostics. I was wondering the same thing, if they only test negative or positive.

It is just such a vague answer tho, I would think they would just not even put down the second one or say it was DQ2 or DQ8 negative. Not the unidentifiedpart, which sounds like they don't know what it is, or homozygosity which means something important - that there are 2 of the same.

I am curious if anyone else had that wording on theirs.

[JustMe75]

The pediatrician just called me back. He spoke with the lab and they said my youngest does have double DQ2. I do too. That means either her dad has a DQ2 gene also or he said it is possible with me having double DQ2 that I passed both on to her. With the combination of 2 DQ2 genes a child can inherit both genes from one parent.

He said to start her on the gluten free diet.

[nora-n]

Yes, this makes more sense.

I think it would have been more clear if they had reported the double DQ2 the first time.

nora