Please Explain The Genetic Test Results

[jaggirl47]

This is the genetic report:

DQ2 (DQA1 0501/0505, DQB1 02XX)

Negative

DQ8 (DQA1 03XX, DQB1 0302)

Negative

Final results:

DQA1*02: ARSW, 02:01

DQB1*02: YE, 06: ABUXJ

Code translation:

YE 02/12

ARSW 02/08/09/11

ABUXJ 02/84/108/111/113/114/115/116/117/127

The patient is positive for DQB1*02, one half of the DQ2 heterodimer.

The GI doc just called me and said that his genetic test was completely negative but this is word for word the report. Please help!!!!

[cyclinglady]

Here is a link about gene testing:

Open Original Shared Link

[jaggirl47]

That doesn't give any info on testing positive with 1/2 gene though on the DQB1 gene.

[jaggirl47]

OK, I just got off the phone with the lab for help understanding. This is what my son tested as:

 

DQ2A

DQA1 01:02

DQA1 01:08

DQA1 01:09

DQA1 01:11

 

DQA1 02:01

 

DQ2B

BQB1 02:02

DQB1 02:12

 

DQB1 06:02

DQB1 06:84

DQB1 06:109

DQB1 06:111

DQB1 06:113

DQB1 06:114

DQB1 06:115

DQB1 06:116

DQB1 06:117

DQB1 06:127

 

The way the lab explained it to me is that my son is DQ2.2. He tested negative for DQ2.5. Because he tested negative for 2.5 but positive for 2.2 he was reported as testing positive for 1/2 of the DQ2 heterodimer.

 

Does anyone understand all of these numbers?

[murphy203]

Hi jaggirl, I just got my genetic results back, too, and I found this site to be very useful:  Open Original Shared Link

 

Sounds like your son may be a the "low" risk category with a DQ2.2 and another low-risk gene, but you probably should call your doctor and insist on an explanation.  

 

Best wishes

[jaggirl47]

The problem I have with the doctor is when he called me yesterday, he said my son was negative for ALL genes related to Celiac. He looked at the portion where it said my son was negative for DQ2.5 and DQ8 but completely missed what he did test positive for. I had the report right in front of me and when I commented that he wasn't negative for all genes I was treated with complete rudeness. It even states in the report that the comments need to be read to see the results, not just the negative DQ8 and DQ2.5.

 

The haplotype my son was assigned was HLA-DR7-DQ2 which is seen in Celiac.

[murphy203]

Sounds to me like your best option is to call your doctor back, or wait until your followup appointment (if you have one).

[jaggirl47]

We go back April 6. Supposedly the doctor is going to call me back today.

 

I reached out to my ex-husband yesterday to try and get genetic info from him. The info I managed to get (he is adopted but does know his bio parents) is that his dad has juvenile onset type 1 diabetes and "random issues". His mom denies anything other than bi-polar. My ex informed me yesterday that he has severe lactose intolerance, which I knew about. What I didn't know, until yesterday, is that he was hospitalized multiple times as a child/young teen for "stomach issues". He was never given a diagnosis though. Those hospitalizations happened throughout the 80's and early 90's so I am not sure if they did celiac testing then. Most of his hospitalizations lasted 1-2 weeks. He still suffers from digestive issues and he agreed to go get testing for celiac.

[murphy203]

Let us know how it goes, hopefully he can explain things properly to you!!

When I researched my HLA DQ8 gene, I found numerous references correlating the presence of the same DQ2 and DQ8 genes with type 1 diabetes and other autoimmune conditions, but in reverse predominance: 90% celiac disease cases have DQ2, 90% type 1 diabetes cases have DQ8. I have a son with type 1 diabetes, so I guess I now know who is to blame for sharing the "bad" gene!

[jaggirl47]

I do know that with my son's DQ2.2 gene he has the beta chain most responsible for gluten intolerance. The alpha chain not so much. The risk the lab gave him for celiac with the genes he has was 1:210. He is getting an endoscopy.

 

BTW, it's always the ex-husband's fault lol.

[StephanieL]

I can understand wanting specific answers but it sounds like your Dr. is answering thing for you but you aren't satisfied with her/his response or how they are dealing with it.  If you have these issues with the Dr. perhaps you may be better off getting a second opinion? I just can't see letting a Dr. put my kid under when I am unhappy with pretty basic questions I have not being answered to the fullest.  

[jaggirl47]

It's not that I'm not satisfied with his response to my son's issues. I'm not happy with the fact that he failed to read the genetic report and gave false info to me. As far as seeing other doctor's, it has taken 8 years to even get a GI referral. From the first appointment the GI doc said he can look at my son and see he has malabsortion issues. Yes, it is that obvious by just looking at my son.

[murphy203]

You clearly know more about genetics than me -- consider me here for moral support, and feel free to blame the ex -- especially with his history. Yesterday, my dad handily assigned blame to my mom for my bad genes, but it could as easily be him!

[LauraTX]

I have nothing to add except: Yep, blame the ex!!! 

[jaggirl47]

I just got off the phone with my son's GI. He apologized for not reading the results properly and consulted directly with the lab himself. We went over the history I was able to get from my ex as well. While going over the CBC results that show anemia, he said that even though the iron panels came back normal he feels my son most likely has iron deficiency anemia. He thinks the iron panels came back in the normal range due to my son being on a gluten free diet for 1 1/2 months prior to the blood test. Apparently my son had an iron panel when he was 5 and it showed IDA then but the doctors never told me and never looked further into it. We go back April 6 and that has been changed from a follow up appointment to a pre-op appointment. We are looking to do the endoscopy the week of April 20 which will put us at 6ish weeks on gluten.

[cyclinglady]

Whew! It sounds like you are getting some answers. Sorry, I could not help you with Gene testing. I never had that done, so I have not researched it.

[jaggirl47]

We did the gene testing because the celiac panel our hospital does showed him negative. He didn't have a good panel though. They only did tTG IgA and IgG and the AGA IgA and IgG panels. They didn't do (and refuse to) the DGP tests or the EMA test.

[murphy203]

Kind of sinks that they didn't follow up on iron deficient anemia before, but I am happy to read that you are getting some answers now. Hang in there!!!

[jaggirl47]

After 8 years we are finally getting somewhere. As much as I don't want my son to have celiac, at the same time I do want the diagnosis because that means we found the problem. I hope that makes sense.