So Confused About Test

[AWeddDesigner]

Hi All,

I really need some clarification.

Here are my results:

Biopsy - Colon Doctor says I am fine. No Celiac Disease

Primary Care Doctor - Says yes you have it

DQ2 (DQA1 0501/0505, DQB1 02XX

DQ8 (DQA1, 03XX, DQB1 0302

Final Results DQA1 * 0201

DQB1 * 0202

I don't know if I have it or not. Please help me understand.

[MsCurious]

Hi All,

I really need some clarification.

Here are my results:

Biopsy - Colon Doctor says I am fine. No Celiac Disease

Primary Care Doctor - Says yes you have it

DQ2 (DQA1 0501/0505, DQB1 02XX

DQ8 (DQA1, 03XX, DQB1 0302

Final Results DQA1 * 0201

DQB1 * 0202

I don't know if I have it or not. Please help me understand.

These tests are so confusing aren't they? I did a lot of research when I got my test results back. Keep in mind this is just what I "think" this means, from all the reading I have done.

You have TWO HLA DQ markers, one from your mother, one from your father. Within each DQ marker there are two alleles. In your case they are DQA1*0201 and DQB1*0202. This set of your HLA DQ markers looks like HLA DQ2.2

(DQB1*0202 allele is linked to several DQA1* alleles, the linkage with DQA1*0201 forms the DQ2.2 haplotype).

A small percentage of celiac disease are associated with this haplotype, and some disease causing gliadins are presented by DQ2.2. Having this marker does not mean you have celiac disease, it simply means you are in the "pool" of about 30% of the population, who have the possibility to develop celiac disease.

Having said that though, if you were NOT diagnosed with celiac and:

you have a genetic marker for celiac

you have celiac type symptoms

you respond favorably to a gluten free diet

you more than likely have a gluten sensitivity/intolerance aka: NCSG (non-celiac gluten sensitivity). If you can add a positive blood test to that list you have four out of five, on the list of diagnosing celiac. Biopsy remains the "gold standard" for determining positive celiac, however, I have read resent research that suggests a four out of five test is being used by some doctors to "officially" diagnose celiac. I'll post that below.

Four out of Five Test:

"Celiac disease is the only treatable autoimmune disease, provided that a

correct diagnosis is achieved and a strict, lifelong gluten-free diet is

implemented. The current diagnostic algorithm for celiac disease includes

initial screening serological tests, followed by a confirmatory small

intestinal biopsy showing the autoimmune insult typical of celiac disease.

The biopsy, considered the diagnostic gold standard, has been recently

questioned as a reliable and conclusive test for every case. Indeed, the

wide variability of celiac disease-related findings suggests that it is

difficult to conceptualize the diagnostic process into rigid algorithms that

do not always cover the clinical complexity of this disease.

Instead we find clinically useful the shifting to a quantitative approach that can be

defined as the "4 out of 5" rule: the diagnosis of celiac disease is

confirmed if at least 4 of the following 5 criteria are satisfied:

1. typical symptoms of celiac disease;

2. positivity of serum celiac disease immunoglobulin A class autoantibodies at high titer;

3. human leukocyte antigen (HLA)-DQ2 or DQ8 genotypes;

4. celiac enteropathy at the small bowel biopsy;

5. response to the gluten-free diet."

I have DQ2.5 and once my biopsy is done, I will be going gluten free regardless of the outcome, because I have the genetic marker, and the symptoms that are relieved by a gluten free diet. You might consider doing the same, it should help emensely! Hope this helps you! Contact your doctor with your questions... that's the best thing to do. Good luck and hope you feel better real soon!

After thought: The way you wrote your results, it almost looks like your two positive alleles were each from a separate DQ marker, meaning one allele from each parent. Typically, as in my case I received a solid DQ marker from on parent, meaning both alleles were within one marker. If you did receive one allele from each parent (when put together they indicate HLA DQ2.2) I don't believe your first degree relatives have nearly the chance of inheriting the same. I don't remember the official medical term for this type of situation, but celiac is less likely to be an issue within your family. You can always do more research.

EDIT ADDED: Since the third poster may have confused you a bit, let me explain that the FIRST two genetic sequences that you have listed in your post appear to be simply there for reference purposes, and are NOT your results. Your personal test results are the two bottom alleles (pair of markers) that you have listed under FINAL results. These two alleles indicate that you DO have genetic marker indicating the possibility of developing celiac disease (specifically HLA DQ2.2). If this confuses you.. send me a message, and I'll try to direct you to some information that may help you understand better.

Essentially, it appears that you have a postitive test for the genetic markers for celiac. Did doc do any serology testing for celiac (blood tests)? Was this an endoscopic biopsy of the small intestine?

[mushroom]

I am confused when you say your "colon" doctor says you don't have celiac. Did he do a colonoscopy or a gastroscopy (i.e., top end or bottom end?) You cannot diagnose celiac with a colonoscopy.

[nora-n]

I know a bit about those gene tests; the problem is the many ways labs report them.

Now those two different reports do not match at all, except for that they agree on that there is a DQ2, the first one says it is the celiac DQ2,5 but the second report says it is the less celiac prone 2,2.

Now what exactly does the lab report say?

Some people here reported that the results were not complete, but the lab did have the complete result and they got it when they phone or contacted the lab. Often they just report positive or negative for DQ2 or 8. (but they actually have the whole thing, both beta and alpha chains)

Note that the first report just looks for the presence of 05* and 02* which together make up 2,5 but there are a couple of possibilities, and one of them includes the 2,2 as well but the 2,5 is made up in trans. (by DQ2,2 plus DQ7 if it is DQ7,5 since that one has the 05* alpha chain)

by the way, one cannot rule out celiac with DQ2,2 since some do have celiac, just the risk is smaller than with 2,5. There have been several 2,2 here asking the gene questions.

[MsCurious]

I know a bit about those gene tests; the problem is the many ways labs report them.

Now those two different reports do not match at all, except for that they agree on that there is a DQ2, the first one says it is the celiac DQ2,5 but the second report says it is the less celiac prone 2,2.

Now what exactly does the lab report say?

Some people here reported that the results were not complete, but the lab did have the complete result and they got it when they phone or contacted the lab. Often they just report positive or negative for DQ2 or 8. (but they actually have the whole thing, both beta and alpha chains)

Note that the first report just looks for the presence of 05* and 02* which together make up 2,5 but there are a couple of possibilities, and one of them includes the 2,2 as well but the 2,5 is made up in trans. (by DQ2,2 plus DQ7 if it is DQ7,5 since that one has the 05* alpha chain)

by the way, one cannot rule out celiac with DQ2,2 since some do have celiac, just the risk is smaller than with 2,5. There have been several 2,2 here asking the gene questions.

I believe you are misinterpreting the post. The first two genetic sequences are the DQ2 and DQ8 markers that they look for when testing. They are listed for REFERENCE purposes only. (They listed those on my results as well, as a reference).

The FINAL test results listed are the actual alleles found during testing. In this case those two alleles together = HLA DQ2.2 is a MUCH smaller population than DQ2.5, but still does fall into the "pool of possibility" of developing or having celiac disease.

[nora-n]

makes sense, so the second was the result they reported.

In that case i would contact the lab and ask for the complete results, as several people here have reported the lab did have all the beta and alpha chains but only reported what was thought to be relevant regarding celiac.

if one goes to wikipedia, they have several articles on DQ2 etc. and some celiacs do have DQ2,2.

by the way, DQ2,2 and 2,5 and DQ8 etc. are just the nicknames, the actual names are the beta and alpha chains...but it is easier to relate to the nicknames.

[nora-n]

Yes, I understand the report now, it is DQ2,2 since they looked for any 05* in the alpha chain and there was none.

(05* in the alpha chain would be DQ7 in this context)

Several people have psoted about 2,2 so we do know that some celiacs have 2,2, also wikipedia says that some celiacs have 2,2.

Still, it would be interesting what the other gene is.

If it is any DQ1 (which has 01* in the alpha chain) this is connected to gluten sensitivity and gliadin antibodies in the brain. Often the labs do not report DQ1.

Dr. Hadjivassiliou found that 20% of his gluten ataxia patients had DQ1.

[AWeddDesigner]

I am confused when you say your "colon" doctor says you don't have celiac. Did he do a colonoscopy or a gastroscopy (i.e., top end or bottom end?) You cannot diagnose celiac with a colonoscopy.

Yes he did a biopsy and he said everything looks find. That is what is confusing. I would thinks that he would have to send a biopsy off to a lab.

[mushroom]

You are correct. Ask him for a copy of the pathologist's report. Sometimes you can see damage to the small intestine with the naked eye; but usually you need to look at the slides under a microscoope.

[AWeddDesigner]

This is how it is setup:

Celiac Disease HLA DQ Assoc.

Test Result

DQ2(DQA1 0501/0505, DQB1 02XX) Positive

DQ8 (DQA1 03XX, DQB1 0302) Negative

Hopefully that helps. The doctor who diagnose me with Celiac has Celiac - I would hope she would know how to read the test. If not then may she does not have it either. ; )

There are a couple things that make me think I have it:

• The colon doctor said I did not have it and I ate biscuit in gravy. I had the worst mouth ulcers and the biggest cold sore the next morning.
  
• I have no energy at all. Exhausted all the time.
  
• Blood test came back and I low in B12 and Vitamin D. I had been taking Vitamin D
  
• I have no energy at all. Exhausted all the time.
  
• Infertility
  
• Obesity
  
• Muscle weakness
  
• Joint Pain
  
• Sleeping a lot
  

Sorry for the bluntness:

Does anyone have issue with there rectum when they eat gluten.

[MsCurious]

This is how it is setup:

Celiac Disease HLA DQ Assoc.

Test Result

DQ2(DQA1 0501/0505, DQB1 02XX) Positive

DQ8 (DQA1 03XX, DQB1 0302) Negative

Yep if what you originally posted is correct, you would be DQ2.2 positive.

[nora-n]

Now this makes it unclear again, as 05* in the alpha chain means DQ2,5.

The first posting here said 02* in alpha and 0202 in beta, which is DQ2,2

[MsCurious]

Now this makes it unclear again, as 05* in the alpha chain means DQ2,5.

The first posting here said 02* in alpha and 0202 in beta, which is DQ2,2

It's really a non-issue, regardless this person is DQ2 positive.