Can You Help Me With My Gene Test Results?

[scstampin]

My GI ordered the gene test for Celiac, and I requested a copy, but I have no idea how to read it, can anyone help?

DQ Alpha 1 01,05

DQ Beta 1 03,5:01

Then it says under Interpretation: see comments. But there are no comments. It just says gene pairs not present. My 3 yr old daughter was diagnosed with celiac through blood and biopsy. And I have a ton of symptoms... diarreah, severe upper abdominal stomach pains, nausea, low iron, bone and joint pain, hair loss, bloating, insomnia....and the list goes on. (I finally realized that this stuff is NOT normal, and I need to figure out what is causing it!)

So, do these test results mean I could not have Celiac disease?

Also, would that mean that my daughter got the genes for it from my husband and he should be blood tested as well even if he has no symptoms?

Thanks!

[ravenwoodglass]

Gene tests can not be used to firmly rule celiac in or out. Many have one of the two most commonly associated genes and never develop celiac and others have celiac but not one of those two genes.

Has your doctor done any other celiac related tests on you? If not they should. And yes with a DD positive to both blood and biopsy your DH also needs to be tested along with any siblings either of you or you DD have.

When you are done with all your testing if you are having symptoms you should try the diet. Making the house gluten free after testing might not be a bad idea.

[scstampin]

I did have other tests done, kind of in backwards order though! We have since realized that the Medifast weighloss program I was doing at the beginning of this year has alot of certified gluten free foods, so I was pretty much gluten free for 10-12 weeks without really realizing it or thinking gluten had anything to do with my health issues.(and I thought I was feeling SO good because I was losing weight and exercising more...but maybe that was not the only reason!) After I lost the weight and went off the diet I would say I was probably "gluten light" because I was trying to eat a lot of fruits, veggies, salad, lean meat, etc to keep the weight off. So........ I am thinking now my testing could have been affected because of that. Anyway...on to the testing:

I was having a colonoscopy and endoscopy to look for other things that could be causing my upper abdominal pain since having my gallbladder out last december, and we had not yet had my daughter tested at that time, but I knew a little about celiac disease, so I asked the nurse if the GI would biopsy for celiac. She replied "celiac disease would not cause your abdominal pain, but he could biopsy for it I suppose"! He took 2 biopsies in the small intestine, and they were negative. (other test results from colonoscopy were GERD, Barrett's esophagus, gastritis, and espohagitis - have the physician notes somewhere but can't seem to find them at the moment, I also have the pictures from the scope somewhere)

Then after my daughter's blood test came back positive, and we were waiting on her biopsy results, I went in and had the celiac panel done, which was negative as well. Here were the results:

Deamidated Glaidain Abs, IgA 4 (range 0-19)

Deamidated Gliadin Abs, IgG 2 (range 0-19)

t-Transglutaminase (tTG), IgA <2 (range 0-3)

t-Transglutaminase (tTG), IgG <2 (range 0-5)

Endomysial Antibody IgA: Negative

Imunoglobulin A, Qn, Serum 80 (range 70-400)

After colonoscopy and endoscopy I was put on omeprazole and carafate and was told to call in after 3 weeks to see if it was helping the pain. It was not, so the GI did an endoscopic ultrasound to look for bile duct stones. By this time, my daughter had been diagnosed, so I talked to the GI nurse before the procedure on the phone and asked with the new information on my daughter, if they could rebiopsy for celiac doing more than 2 biopsies since they would be in there again anyway, she called me back and said "No".

At follow up GI appt. I talked to the Dr. about my daughter being diagnosed and now all the sudden he was like "OH...well let's do the gene test then". (results posted above). He also ran other blood tests:

Endomysial Aby - Negative

Tissue Transglutaminase Antibody (IgA) <1.2 (range: <4 negative)

A bunch of other levels were run, and the nurse called and said "everything looks fine, everything is negative". But when I got the copy of the results there were 2 flagged as high.

Globulin 3.4 (normal range 2.7-3.2)

Chloride 110 (normal range 98-107)

They are not super high (I don't think?), but I was frustrated that the nurse just said "everything is negative". I don't know what those elevated numbers mean...but still they are above normal range, and she didn't even bring it up.

Sorry for the long post! Any input on any of these test results would be greatly appreciated!

[scstampin]

Also wanted to add... I do think I will go gluten free with my daughter anyway after exhausting my options with testing, but I would like to try to get a diagnosis if I DO have Celiac disease, because I feel that if I don't have that, I won't a basis to ask for other testing. I broke both of my femurs in a car accident 12 years ago, and my bones took years to heal and they did not know why. I had to have one leg re-rodded because they were worried the rod was going to break as it was bending because the bone wasn't healing around it as well as it should.

Now, I feel like maybe I need to have a bone density scan done, and maybe I wasn't absorbing nutrients (or the vitamins and calcium I was on at the time?) But I don't think I could just say "hey, I want this test done", unless I have a "reason" I guess.

[scstampin]

Also, what genes does this mean I have? I see people posting I am DQ2 and DQ8 or whatever they are. I can't tell why my 2 genes are from these results. Can someone help?

Thanks!

[beachbirdie]

Also, what genes does this mean I have? I see people posting I am DQ2 and DQ8 or whatever they are. I can't tell why my 2 genes are from these results. Can someone help?

Thanks!

I've been trying to learn the "system" so I went out on the web diggng up a lot of gene stuff. To my inexpert eye it looks like you might have a DQ7. Some studies are suggesting that indeed DQ7 MIGHT be implicated in a small percentage of celiac cases, about 2% of them.

Hopefully one of the scientifically literate members will see your question and offer a better answer soon.

Open Original Shared Link

Open Original Shared Link

[squirmingitch]

It seems to me that none of your tests are valid. Not the scope nor the celiac panel. Reason being that you were gluten light. Add to that, the fact that there is a 30% false neg. rate in the first place & in short --- you're screwed as far as testing goes. Now, the only way to get accurate testing would be to go back fully on gluten for 3 months eating the equivalent of 4 slices of bread per day. And STILL you would have the false neg. factor.

[scstampin]

Beachbirdie, thanks for your response! So is it the DQ alpha or DQ beta that looks like it is DQ7? Still trying to figure out the other gene. No CLUE how this stuff works!

Very interesting articles. Now that my daughter has been diagnosed, I am very curious to know what her genes are...if she has DQ2 or 8 or not.. we may get her tested just to know.

squirmingitch, yes I agree, I think the scope and blood tests were invalid, I kick myself for being gluten light before, even though it was unknowingly. But I feel like if I had been eating "normal" and not trying to lose weight I would have had accurate results.

As of right now, I am eating gluten....and not feeling very well, but I am hoping to get testing again. We'll see how long I can continue my challenge....

[nora-n]

To decipher the DQ genes, you can look at the chart at wikipedia, there is a good chart under HLA DQ and also one under HLA DR.

Now you have

"DQ Alpha 1 01,05

DQ Beta 1 03,5:01"

From the charts you see they missed your 05 alpha chain, which is half a celiac gene, you are half DQ2,5, the alpha part.

There have been some with half genes here and one got an official diagnosis following a pill cam endoscopy.

(by the way, there has been research that shows that taking only two biopsies will miss half the celiacs, they should take way more samples)

The 01 belongs to 01*0501 as far as I can see, so you have one DQ5,1 which is also DQ1 (DQ1 is DQ5 and DQ6)

The remaining 05 gets the remaining 03* and they do not specify which one, but they were only looking for 0501 0302 which is DQ8. So they did not report more deeply.

BUT THEY SHOULD HAVE REPORTED THE 05* ALPHA since that is half a DQ2,5.

The charts list one 0505 with 03*

it is DQ7,5 which is 0505 0301

Also, you are IgA deficient, or very close to it. This will make your IgA type test results lower than they should be.

Now if you were gluten light, this makes diagnosis often impossible unless you go back on a gluten challenge.

The latest recommendations I have read is at least 0,5 grams gluten per kg weight per day for several weeks, even three months or more.

[squirmingitch]

Nora, can you please provide a link for your last statement? The question has come up several times lately & with ppl arguing that it is not necessary to consume that much gluten for that long so it would be nice to be able to provide documentation as to how much the recommendation is.

Also would be good to give newbies so they can take "official" recommendations to their doc.

Thanks!

[nora-n]

Okay, must look for the 0,5 grams recommendations, I think I found it on pubmed, but there are several on 0,3 grams on pubmed. The 0,5 gram recommendations was the latest I found.

[beachbirdie]

nora_n nailed it down.

One note on the wikepedia article talks about the combining of a DQ2.5 (of which you apparently have half) and the DQ 7.5 to make a DQ2.5. That's a big celiac risk. And the DQ7 is NOT risk-free.

How long have you been back on gluten? I feel for you putting yourself through all the discomfort.

Two biopsies were not enough. Ugh. If they are going to go to the trouble, and cause all the expense that comes with the biopsy, they should do it right in the first place.

[scstampin]

Kudos to all of you that "get" the gene stuff and have done the research! I have read and read and read about it over the last few weeks but it is SO confusing to me! So THANK YOU for all your help!

I have been back on gluten fully for about a week and a half, maybe 2 weeks. If I haven't eating much gluten during the day, I will eat a few pieces of toast before bed just to make sure I got enough. Before that I was gluten light. My poor husband...he turned 30 this weekend,so we got a sitter and went out to dinner and stayed at a bed and breakfast. I have been making sure to get enough gluten everyday, and didn't want to risk "messing anything up" with my challenge, so we went to dinner and I had pasta and some bread. I ate about 1/4 of it, and by the time we left the restaurant, I was so bloated I looked 5 months pregnant and just felt awful. We ended up going back to our room early instead of going out and just going to bed because I was so sick.

anyway, I am wanting a second opinion and had all my tests sent to Mayo in Rochester and am waiting to hear back from them to see what they say. We live about 2 hours from Rochester, and have family there, so I am hoping it works out for me to see the Celiac specialist there. I have not sent in my genetic test results, so I will probably call tomorrow to give them those.

I agree! 2 biopsies were def. not enough! And I was so upset with the GI nurse, when I asked her if they could take more biopsies again since they would be down there anyway for my endoscopic ultrasound, and she said "No". Frustrating! What would be the harm in doing a few extra biopsies!? Although since I wasn't eating lots of gluten then, it may not have been accurate anyway.

So I have half the DQ2.5 gene....Do GI's typically recognize that as a celiac risk?

And then the other gene is DQ 7 or is it DQ 1??? Sorry still a little confused? Beachbirdie said it looks like I have DQ7 and Nora said DQ 1, or do I have both of those? Where does the half gene fit in?

sorry for all the questions and thanks for all the help!

[nora-n]

You have DQ5 and DQ7,5.

The half DQ2,5 is the ,5 in the 7,5.....(the alpha chain)

The DQ1 (which is DQ5 and 6) might make you very sensitive to gluten, by the way, even with neuro symptoms from gluten. There are even some forums with several DQ1 people and neuro issues from gluten.

About the 0,5 grams gluten question above, I found my reference

Open Original Shared Link

Note there are several other references lately that say small amounts of gluten also cause damage to the villi, but for those who got a negative biopsy despite eating some gluten, it may look like increasing the gluten may do the trick to get diagnosed.

Most celiacs suddenly turned celiac after some huge stress in their life. So increasing the gluten for the gluten challenge might be neccessary.

With those who became symptomatic as a small child, a small amount of gluten might do the trick, but nowadays children do not have to go through a new gluten challenge like before, and that was just a few years ago...

[squirmingitch]

Nora you're a doll! Thank you!

[nora-n]

[beachbirdie]

Beachbirdie, thanks for your response! So is it the DQ alpha or DQ beta that looks like it is DQ7? Still trying to figure out the other gene. No CLUE how this stuff works!

Very interesting articles. Now that my daughter has been diagnosed, I am very curious to know what her genes are...if she has DQ2 or 8 or not.. we may get her tested just to know.

squirmingitch, yes I agree, I think the scope and blood tests were invalid, I kick myself for being gluten light before, even though it was unknowingly. But I feel like if I had been eating "normal" and not trying to lose weight I would have had accurate results.

As of right now, I am eating gluten....and not feeling very well, but I am hoping to get testing again. We'll see how long I can continue my challenge....

nora is " da man"! She really "gets it" and explains it well.

[scstampin]

Thank you SOO much for taking the time to help me understand all of this!

[Glutenfreemomma]

scstampin,

Did you ever get a diagnosis? Are your genes DQ7 and DQ5? My story is very similar to yours. Thank you!

[nvsmom]

scstampin,

Did you ever get a diagnosis? Are your genes DQ7 and DQ5? My story is very similar to yours. Thank you!

scstampin has not been active on the board for a couple of years, so I am afraid that you may not get a response.  Perhaps start your own thread concerning those genes.  

 

Best wishes.

[Glutenfreemomma]

Thanks for letting me know!