Can Anyone Help With Genetic Test Results?

[momtotwins]

I need help interpreting my son's genetic test results. He was tested through Labcorp, and the top states that he is DQ2 positive and DQ8 negative. Then it said:

DQA1*01MV, 0501

DQB1*0201, 0501

I was hoping to figure out what this part means because I know there can be different degrees of risk depending on whether you are homozygous or heterozygous for DQ2. Am I correct that he has 1 alpha 501 and 1 beta 201, which would make him heterozygous for dq2? I am not sure what the 01MV means in the alpha part, or why there are 2 501s. Thank you... I am new to all of this!

[MsCurious]

I need help interpreting my son's genetic test results. He was tested through Labcorp, and the top states that he is DQ2 positive and DQ8 negative. Then it said:

DQA1*01MV, 0501

DQB1*0201, 0501

I was hoping to figure out what this part means because I know there can be different degrees of risk depending on whether you are homozygous or heterozygous for DQ2. Am I correct that he has 1 alpha 501 and 1 beta 201, which would make him heterozygous for dq2? I am not sure what the 01MV means in the alpha part, or why there are 2 501s. Thank you... I am new to all of this!

I wouldn't worry about the specific DQ2 that your son has, since just by virtue of having DQ2 he falls into the pool of people who have the genetic predispositon to "possibly" develop or have celiac. You still have to keep a close watch if he doesn't have it now. He will need to have periodic testing through his lifetime to ensure that he hasn't developed it. The tricky part is catching it if he's got silent celiac. And of course being aware of sypmtoms, should he develop them, as they can present in so many different ways.

I would take a stab at helping you with the specific DQ2 marker, but I'm not familiar with the way this particular lab wrote the findings. Without seeing the rest of the report... its unclear exactly how they referenced things.

[momtotwins]

I wouldn't worry about the specific DQ2 that your son has, since just by virtue of having DQ2 he falls into the pool of people who have the genetic predispositon to "possibly" develop or have celiac. You still have to keep a close watch if he doesn't have it now. He will need to have periodic testing through his lifetime to ensure that he hasn't developed it. The tricky part is catching it if he's got silent celiac. And of course being aware of sypmtoms, should he develop them, as they can present in so many different ways.

I would take a stab at helping you with the specific DQ2 marker, but I'm not familiar with the way this particular lab wrote the findings. Without seeing the rest of the report... its unclear exactly how they referenced things.

Thank you so much for your reply. We are having a hard time deciding what is best to do for him. To make a long story short, my daughter is believed to possibly have celiac or at least is very gluten sensitive. She had very obvious symptoms right after we started her on gluten foods, but had a neg. antibody test. She had only been on gluten for about 6 weeks prior to testing and was not even 1 year old, so we know that test may not have been accurate. Due to how sick she was, we opted out of waiting to do a biopsy. She also is DQ2 positive.

After learning about the genetics of celiac with her, we started wondering about our son. He had no symptoms except he was falling off the growth charts. Antibody test was negative last year at age 3. We decided to start him on a gluten free diet with his sister, just to see if it helped. He did start to get back on the low end of the charts and is maintaining there, though he is still small. The hard part is we don't know if his growth is related to the diet or not. We don't want to make him stay gluten free if it's not necessary, but we don't want to impair his growth either if the two might be related. It is so hard trying to make the right decisions with your kids without knowing all of the information. Anyway, thanks again for your help.

[zimmer]

Have you and / or your husband been tested? Logically, your children inherited it from somewhere.

We've done no genetic testing (4 children). It's not clear-cut, and even people with no genetic markers have problems with gluten.

If your children are improving with no gluten in their diet, then that would be my answer (speaking as a mother).

It will not hurt them NOT to eat wheat and other grains. Once I did some reading on that subject, it "sealed the deal" for me. Even if I didn't have to avoid it, I would on the basis of wanting to feed my family a healthful diet.

[nora-n]

Kinda looks like DQ5 and DQ2,5, but I do not understand that MV thing.

For the alpha and beta chains (often they list the beta chains first, and then the alpha chains) (and one has two DQ genes, so sometimes they call one of them 1 and the other 2) you can go to the HLA DQ page on en.wikipedia.org and they have a good chart.

There have been postings here by others who phoned or contacetd the labs and then got all the results, and got some more answers.

Often doctors get only the results for DQ2 or 8, but the lab did test for all the genes, and patients here got the rest of the results.

Sounds like you got results for DQ1 subtype 5, and DQ2,5.

By the way, those with DQ1 can be very very gluten intolerant, very sensitive , and they can have neuro symptoms from gluten.

[MsCurious]

Thank you so much for your reply. We are having a hard time deciding what is best to do for him. To make a long story short, my daughter is believed to possibly have celiac or at least is very gluten sensitive. She had very obvious symptoms right after we started her on gluten foods, but had a neg. antibody test. She had only been on gluten for about 6 weeks prior to testing and was not even 1 year old, so we know that test may not have been accurate. Due to how sick she was, we opted out of waiting to do a biopsy. She also is DQ2 positive.

After learning about the genetics of celiac with her, we started wondering about our son. He had no symptoms except he was falling off the growth charts. Antibody test was negative last year at age 3. We decided to start him on a gluten free diet with his sister, just to see if it helped. He did start to get back on the low end of the charts and is maintaining there, though he is still small. The hard part is we don't know if his growth is related to the diet or not. We don't want to make him stay gluten free if it's not necessary, but we don't want to impair his growth either if the two might be related. It is so hard trying to make the right decisions with your kids without knowing all of the information. Anyway, thanks again for your help.

Hi momtotwins,

My heart goes out to you, with having to deal with the unanswered questions with your kids. I know if I were in your shoes, I would be turning the earth upside down to find the right answers and solutions for my kids. It's such a hard thing to pin point and even moreso with little ones. I don't know if you have access to a celiac center, but if it were me, that's what I would strive for, if at all possible. If that is not an option for you, perhaps you could call one of the well known celiac centers, and get a referral for a good pediatrician who is known in your area for keeping abreast of the most recent research dealing with celiac and gluten sensitivity. I would be HIGHLY suspicious of gluten with anyone who has the 2.5 marker. I know "they" say that this genetic marker means they only have the chance of having it, but if there are symptoms present, and they respond favorably to a gluten free diet, that says volumes.

I keep remembering reading one doctor's article that said, even if tests are negative, if she has patients that test positive for DQ2 or DQ8, and they have symptoms, she puts them on gluten-free diet, and then challenges in a few months. That usually tells the truth, when testing fails. I would try to find a doctor in touch with celiac disease though, since kids have so much other stuff going on just in their general development. That would give me peace of mind, knowing my kids' doctor knew what he was doing and my kids were being well taken care of. Some doctors seem so clueless, and blow people off... hopefully yours is good and will at least attempt to learn rather than do that. I wish you the very best for you and your kiddlings... I can feel how frustrated you are and how much you care. I wish I had answers for you. Please keep us posted on how things are going for you. Hang in there! Hope everybody feels better soon!

[momtotwins]

Thank you all again so much for your responses. It helps a lot just to talk to others who have been through it and understand. I am definitely going to look into calling the lab for more info and also trying to find a better celiac specialist in the area.

Zimmer-I had the antibody testing done. I was still nursing my daughter when we discovered she needed to go gluten-free, so I asked to have the panel run before I went gluten-free with her. It was negative. My husband hasn't had any testing. The more research I do, the more in favor I am of keeping my son gluten-free long term, but I'm having some trouble getting support for that decision. I'm also not sure how accomodating his kindergarten will be next year without a diagnosis.

Thank you again. This board has been a wonderful resource for me.

[zimmer]

After learning about the genetics of celiac with her, we started wondering about our son. He had no symptoms except he was falling off the growth charts. Antibody test was negative last year at age 3. We decided to start him on a gluten free diet with his sister, just to see if it helped. He did start to get back on the low end of the charts and is maintaining there, though he is still small. The hard part is we don't know if his growth is related to the diet or not. We don't want to make him stay gluten free if it's not necessary, but we don't want to impair his growth either if the two might be related. It is so hard trying to make the right decisions with your kids without knowing all of the information. Anyway, thanks again for your help.

If it's any consolation, my youngest followed a similar pattern on the growth charts, but caught up by her 4th birthday. We didn't know about my celiac at the time, and she has had no symptoms and tested negative recently. Therefore during her growth spurt she did not have any change to her diet. So your son's growth could be related to the gluten-free diet, or it could be that he was going to start growing anyway (just on a different curve than the "norm"). It's very hard to know! My pediatrician was reassuring that if she was otherwise happy, healthy and thriving, not to worry.

[salexander421]

Kinda looks like DQ5 and DQ2,5, but I do not understand that MV thing.

For the alpha and beta chains (often they list the beta chains first, and then the alpha chains) (and one has two DQ genes, so sometimes they call one of them 1 and the other 2) you can go to the HLA DQ page on en.wikipedia.org and they have a good chart.

There have been postings here by others who phoned or contacetd the labs and then got all the results, and got some more answers.

Often doctors get only the results for DQ2 or 8, but the lab did test for all the genes, and patients here got the rest of the results.

Sounds like you got results for DQ1 subtype 5, and DQ2,5.

By the way, those with DQ1 can be very very gluten intolerant, very sensitive , and they can have neuro symptoms from gluten.

Do you know of any literature out there that talks about DQ1 and gluten intolerance? I've been doing so many searches but can't seem to find much. My daughter has DQ8 and looks like DQ1 subtype 6. Thanks!

[MsCurious]

Do you know of any literature out there that talks about DQ1 and gluten intolerance? I've been doing so many searches but can't seem to find much. My daughter has DQ8 and looks like DQ1 subtype 6. Thanks!

Gluten-sensitive neuropathy controversy

Is DQ1 associated IGS?. In 2002, a team of British neurologists sorted the gluten-sensitive idiopathic neuropathies(131 individuals) with 41% (58 inds) that were AGA reactive.[25] Although N was not given on DQ studies one assumes that the DQ serotyping was on the set or subset of this 58 individuals or less. Of these 70% (41) were DQ2, of the remaining, 9% (5 of 58) were DQ8+, and the remaining (12) were DQ1. Although the authors made no remarkable claim about DQ1, the claim has propagated among off-clinical testing groups. This study has been the primary support for the DQ1 association. DQ1 typing is notoriously inaccurate, and undertyping and mistyping are common (for example DQB1*0502 in serological efficiency table above). The presentation was not statistically analyzed for significance and was reported in an editorial. A number of DQ2 or DQ8 patients are either celiac disease, undetected celiac disease, or GSE (testing for the full scale of GSE in 2002 was not technically possible); however the observed normal frequency of DQ2 in Kent was 35%. Therefore we can assume many, but not all DQ2 where GSE. The number of DQ8 was unremarkable relative to the normal DQ8 frequency, the number of DQ2 homozygotes was not disclosed nor the second serotype (every person has two serotypes although some have one apparent as they are homozygotes) for DQ2, DQ8 or DQ1. The normal frequency for DQ1 in Britain is 36.9%. Assuming that All DQ2 and DQ8 were GSE associated the random probability of a DQ1 is 0.008 (Fisher exact Test 61,40,12,0) indicating a significance of positive association. However, the authors made no attempt to remove GSEA patients from the group. Given an observed frequency of 70% DQ2, based on the random frequency of DQ2 of 35% the expected numbers of GSEA-DQ2 and -DQ8 are at maximum likelihood of 60%(~35), and the remainder are IGS(23). The Fisher exact probability of 0.5 is obtained with DQ1 lower than expected however this analysis is burdened by not knowing the second serotypes of patients. Tentatively, therefore when one eliminates only DQ2 and DQ8 that are likely part of GSE, and then considers DQ1 the association of DQ1 completely disappears. However, a likely 35% of these non-GSE, AGA+ neuropathies and probably result from other immunological conditions, possibly allergies to gluten or extension of an allergic response to include IgA and IgG.[26] But, the typical markers for ataxia such as anti-Purkinje cell or anti-neuronal nuclear antibodies appear not to be the targets of these gluten sensitive responses[27] Open Original Shared Link

This might shed some light on your question. The page also will help you with the DQ1 DQ6 connection. Hope this helps! (keep in mind it looks like the above study was done in 2002. There may be newer info out there, but the page will at least give you some info on the serotypes.)

[nora-n]

Just google hadjivassiliou, and check the articles and links here:

Open Original Shared Link

wikipedia is very very conservative as usual, they are about the same as cochrane.

[salexander421]

Awesome, thank you both!