Genetic Test Results........

[roxieb73]

OMG......... So they are negative which means not Celiac. What does the rest of it mean?

HLA-DQ2

(DQA1*05/DQB1*02)

Negative

HLA-DQ8

(DQA1*03/DQB1*0302)

Negative

HLA-DQA1* 01

HLA-DQA1* -

HLA-DQB1* 0502

HLA-DQB1* 0602

[Skylark]

You're DQ5, DQ6. By the way a negative test only means you're at low risk for celiac. There are people without the so-called celiac genes who are celiac by blood and biopsy.

[Cara in Boston]

Not having the most common gene does NOT mean you don't have celiac (or that you won't develop it at some point).

The gene test is just another "clue" for doctors to follow when trying to diagnose a patient. It does not rule out celiac or diagnose celiac. It just tells you if you have the genes that most celiacs carry. There are lots of exceptions, so in the end, it really tells you nothing.

My son's genetic test indicated "very low risk" and our first doctor said, based on this and his overall health, NO CELIAC.

Found a celiac specialist who did an endoscopy on him and he was found to have extensive celiac damage.

He is like a new kid gluten free. I'm so glad we didn't listen to the first doctor.

Cara

[VydorScope]

Enterolab who does gene testing for Celiac states in their FAQ that the gene test is not foolproof and some people are negative on the gene test and still have full blown Celiac. They also state in their FAQ that the only sure test is response to the diet.

So my question for you is have you had any other tests? Have you tried going gluten-free, and has it worked? If yes, then forget the gene test.

[MoMof2Boyz]

very interesting! My son's genetic test came back extremely low risk. His blood test was negative however, he has a low total serum IgA BUT the DGP IgG was tested(along with others) and is negative.

[tlcounts]

Do you mind me asking where you got your gene test done through? I'm considering ordering through Enterolab.

[kareng]

From the Univ of Chicago Celiac CT:

Open Original Shared Link

Who can order the gene test? Does

it have to go to a special laboratory?

How much does it cost?

Genetic testing is available through most

doctors. At-home test kits are also available

from Kimball Genetics and Prometheus

Laboratories. Pricing for the test varies: athome

kits cost approximately $400; when

done through a blood draw the test can

cost as much as $2,000. More and more

insurance companies are covering the cost

for the test, especially if the individual being

tested has a risk factor for the disease.

[Jestgar]

Keeping in mind, there is no identified "Celiac gene". DQ2 and DQ8 are associated with celiac disease, but 30% of Caucasians have one of these two genes anyway. If you break down the numbers:

If you have celiac disease, there is a 95% chance you'll have either DQ2, or DQ8. If you have DQ2, or DQ8, this indicates only a slight risk increase for celiac disease.

[IrishHeart]

Genetic testing used to be used as a more of an exclusionary test, not as a diagnostic tool.

If someone had typical symptoms, but was negative on both blood and biopsy and did NOT have either DQ2 or DQ8, celiac was ruled out.

[ravenwoodglass]

  On 6/12/2012 at 10:57 PM, IrishHeart said:

Genetic testing used to be used as a more of an exclusionary test, not as a diagnostic tool.

If someone had typical symptoms, but was negative on both blood and biopsy and did NOT have either DQ2 or DQ8, celiac was ruled out.

And unfortunately some doctors will have a patient with both positive blood and biopsy but then gene test and if one of those 2 genes are not present will tell the patient the blood and biopsy were false positives.

[roxieb73]

  On 6/12/2012 at 7:34 PM, Skylark said:

You're DQ5, DQ6. By the way a negative test only means you're at low risk for celiac. There are people without the so-called celiac genes who are celiac by blood and biopsy.

Well I think testing is over but I do plan on going gluten free tomorrow regardless.

[roxieb73]

  On 6/12/2012 at 8:26 PM, Cara in Boston said:

Not having the most common gene does NOT mean you don't have celiac (or that you won't develop it at some point).

The gene test is just another "clue" for doctors to follow when trying to diagnose a patient. It does not rule out celiac or diagnose celiac. It just tells you if you have the genes that most celiacs carry. There are lots of exceptions, so in the end, it really tells you nothing.

My son's genetic test indicated "very low risk" and our first doctor said, based on this and his overall health, NO CELIAC.

Found a celiac specialist who did an endoscopy on him and he was found to have extensive celiac damage.

He is like a new kid gluten free. I'm so glad we didn't listen to the first doctor.

Cara

Wow I guess there is still a chance but I am just going gluten free to see how it goes.

[roxieb73]

  On 6/12/2012 at 8:42 PM, VydorScope said:

Enterolab who does gene testing for Celiac states in their FAQ that the gene test is not foolproof and some people are negative on the gene test and still have full blown Celiac. They also state in their FAQ that the only sure test is response to the diet.

So my question for you is have you had any other tests? Have you tried going gluten-free, and has it worked? If yes, then forget the gene test.

I did have a brief trial and felt so much better! I guess that is why I am so surprised.

[roxieb73]

  On 6/12/2012 at 10:12 PM, tlcounts said:

Do you mind me asking where you got your gene test done through? I'm considering ordering through Enterolab.

I just went to my doc and quest diagnostics did it and my insurance paid for it.

[roxieb73]

  On 6/12/2012 at 10:39 PM, Jestgar said:

Keeping in mind, there is no identified "Celiac gene". DQ2 and DQ8 are associated with celiac disease, but 30% of Caucasians have one of these two genes anyway. If you break down the numbers:

If you have celiac disease, there is a 95% chance you'll have either DQ2, or DQ8. If you have DQ2, or DQ8, this indicates only a slight risk increase for celiac disease.

Wow someone had done their homework.

[IrishHeart]

  On 6/12/2012 at 11:45 PM, ravenwoodglass said:

And unfortunately some doctors will have a patient with both positive blood and biopsy but then gene test and if one of those 2 genes are not present will tell the patient the blood and biopsy were false positives.

Yes, and my doctor told me of a man who had negative blood, neither gene, no celiac in the family and total villous atrophy upon biopsy, which he did based on symptoms. Wise doc.

[roxieb73]

  On 6/13/2012 at 1:27 AM, IrishHeart said:

Yes, and my doctor told me of a man who had negative blood, neither gene, no celiac in the family and total villous atrophy upon biopsy, which he did based on symptoms. Wise doc.

Wow! That is a great doc! Well I still have this hideous rash on my legs I am going to ask to see a dermatologist and see if they will biopsy and I still have the GI doc wanted to do an endoscopy anyway so we will see. Regardless I am going Gluten free tomorrow and see what happens. Otherwise I give up I have nothing else I can think of.

[roxieb73]

Here is what I sent to my doctor.......... He is pretty easy and wants to figure things out too. What do you think?

Ok I admit I was ready to throw in the towel and give up but I just can't. I refuse to believe this can't be fixed. I WILL walk up that waterfall on my vacation!!!! Call me crazy but I still believe Gluten is the culprit! I have been doing some investigating and here is what I found. First here are my HLA results....

HLA-DQ2

(DQA1*05/DQB1*02)

Negative

HLA-DQ8

(DQA1*03/DQB1*0302)

Negative

HLA-DQA1* 01

HLA-DQA1* -

HLA-DQB1* 0502

HLA-DQB1* 0602

So basically double whammy with the DQ1 or *subtypes DQ5,DQ6* (DQA1*01/DQB1*0502) and (DQA1*01/DQB1*0602) ** Of course they also say with 2 of this gene the probability of developing these symptoms are much higher **

There are a lot of articles and studies out there that say in patients with HLA DQ1 they are at greater risk for Gluten Sensitivity causing much of the same problems as Celiac. Including vitamin deficiency which causes Nutritional Neuropathy

Here are a few articles I saw and as I said there are many more.

From the Journal of Neurology, Neurosurgery and Psychology with practical neurology

Gluten sensitivity as a neurological illness

Open Original Shared Link

From Wikipedia

Gluten-sensitive idiopathic neuropathies

Open Original Shared Link

Neuropathy associated with gluten sensitivity

Open Original Shared Link

Medscape

Complex Regional Pain Syndromes

Open Original Shared Link

I am not sure how many of my symptoms can be attributed to this but I do know I was starting to feel better when I was doing the Adkins diet. So I am going to go Gluten free and see how things go. My biggest problem is walking and peripheral neuropathy would explain that. As is I can barely walk from the house to the car without feeling like my legs are going to give out and the burning and tingling is terrible. The edema is so bad I feel the water on my knees. It is all squishy. Yuck!

If this is the cause can we check vitamin levels see if I am actually deficient in anything? I was thinking Vit D,E,B6,B12,Folate,Iron and Serum Ferritin. Also just in case Deamidated Gliadin IGA and IGG. I was actually borderline for iron deficiency anemia when tested by the GI doc. Here are labs...

IRON AND TOTAL IRON

BINDING CAPACITY

IRON, TOTAL 61 40-175 mcg/dL

IRON BINDING CAPACITY 408 250-450 mcg/dL

******* % SATURATION 15 15-50 % (calc) ********

FERRITIN 67 10-154 ng/mL

So what are your thoughts on this? If you think I am crazy just say so. lol I just can't go on like this. If I do I will be in a wheel chair soon. If you have any other ideas on what it may be I am all ears.

Also the Physical Therapist said when we get things sorted out he would be happy to do some strength training with me to try to get my strength up before my vacation.

I would like a referral to a dermatologist to address this ugly rash on my legs. It is getting worse and spreading now.

I am also going to ask the GI doc to go ahead with the endoscopy he wanted to do and see if we can find out why I puke every morning.

Ok I am done now let me know your thoughts or suggestions.

Roxie

[VydorScope]

  On 6/13/2012 at 5:31 AM, roxieb73 said:

I am also going to ask the GI doc to go ahead with the endoscopy he wanted to do and see if we can find out why I puke every morning.

Ok I am done now let me know your thoughts or suggestions.

Roxie

If you plan to do the scope you can not go gluten free until after it. Based on the little information in this thread and my lack of a medical degree I think that after the scope you should go gluten free and see what happens, regardless of how the scope turns out.

[IrishHeart]

I think you are wise to continue to pursue what is keeping you ill and headed for a wheelchair. I was in your position for 3 years and had I not been relentless, I do not know what would have become of me. Wheelchair, mental health ward, dead. I am still rehabbing my weak muscles a year and a half after DX. I had major loss of muscle mass. I still have bone pain and neuro symptoms that we hope will resolve entirely. I have been tested out the ying yang and receive excellent follow- up care and he leaves no stone unturned. But in the end, the muscles and nerves can only come back when they do. We can do all the PT in the world, but if there is malabsorption going on, recovery of muscle and tissue is difficult. I have to be patient.

So maybe I am more inclined to encourage you to keep pressing, but this is solely based on my experience.

Does the dermatologist know how to biopsy for DH? If so, that may be your best bet.

I agree with Vincent.

Regardless of the test results, go gluten-free. If you feel better off it, then that's your answer.

Good luck, hon.

[roxieb73]

I have only asked for a referal to a derm so I won't know if they are skilled with DH till I go in. Regardless I will badger them for a biopsy. Today I start gluten free. So hopefully on my way to recovery. Thank you so much for all your help!!!!

[IrishHeart]

Good luck and I hope you feel better soon!

[roxieb73]

Would anyone happen to know if blood tests are ever positve with DQ1?

[Skylark]

  On 6/13/2012 at 3:41 PM, roxieb73 said:

Would anyone happen to know if blood tests are ever positve with DQ1?

Yes, they can be. People with DH have positive bloodwork reasonably often.

With DQ1 you can also have very severe non-celiac gluten intolerance, where you get really sick from gluten but none of the tests show anything. You sound more celiac with the DH though.

[squirmingitch]

ROXIE, ROXIE, ROXIE!!!!!! DO NOT go gluten-free until you get the endoscopy & the dh biopsy! If you do then you will be almost assuring yourself of a negative on both counts. You have to be actively eating gluten for BOTH of those!!!!! And I don't mean gluten light. And I don't mean off gluten a week or two & then back on gluten a week or two but FULLY on gluten.

If you don't stay on gluten until those tests are completed then you may as well forget getting the tests. IMHO.