Genetic Results For 4 Year Old- Homozygous Dqb102

[ajacl]

Hi. I was hoping to gain some understanding from my 4 year olds genetic screening. She has had and continues to have numerous struggles and symptoms. However, we are just now realizing that all of her symptoms fall in line with Celiac.

Her pediatrician tested her for two antibodies. I believe it was tTG and anti-gliden? Unfortunately, I do not have the results available to me right now, but will be requesting them tomorrow. Both of the the antibody labs they ran came negative.

At the time of her lab draw her doctor was quick to inform me that it is not uncommon to have a false negative. She highly recommended the genetic screening.

We got her results Friday afternoon and I think I may understand them somewhat, but am still confused! I would greatly appreciate any feedback!

DQ2- positive

DQ8- negative

Final results:

DQA1*02:01, 05:01

DQB1*02:01, 02:02

The patient is positive for DQ2 and is homozygous for DQB1*02. Celiac disease risk from the HLA DQA/DQB genotype is approximately 1:10 (10%).

I tried to follow along using the wiki link. Am I correct that she is DQ 2.2 and DQ 2.5? Also, I'm really not following what she homozygous for. I understand it's for DQB1*02, but it does not include the .01 or .02 in it's results. Are those the same?

We have two other children. One does not show signs of celiac or an intolerance. Our youngest one is still an infant. Am I correct that they would have at least one copy of DQB1*02?

We will be making an appointment with a pediatric GI doctor, but in the meantime I just wanted to try and understand. I know there is a risk chart from 1-8. Would anyone happen to know where she'd fall on it?

Thank you so much!

[kareng]

This person is asking a similar question. I tried to copy my response but the links didn't work.