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NE Mom

Help With Gene Testing Results

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I had the gene testing done on my daughter but I'm not sure they did the right tests????? What do you think....

Results

HLA Class II, Locus DQB, Allele 1 Results:0303

HLA Class II, Locus DQB, Allele 2 Results: 0604

Serological Equivalent: DQ 6, 9

Explanation says "If less than 2 alleles are reported for a locus, the patient is likely homozygous"

I thought the gene testing was DQ 2 & 8?

What do you think the scores of 0303 & 0604 mean (greater than 2?)

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I don't know a great deal about genes but I do know one thing and that is that you can't use them as a for sure and for certain that she does or doesn't have celiac. Some doctors feel that you need to be either DQ2 or DQ8 and if you not you will never be celiac. That is false thinking.

With the DQ9 that she has, well that is a gene that I am familiar with since I have 2 copies of that one. I am firmly diagnosed but had a great deal of damage before the diagnosis as can be seen from my signature. I also had many false negative celiac panels but even though I was a test book celiac symptom wise no doctor even told me what 'celiac sprue' was or that I should try the diet even though the blood work was negative.

Has she had a celiac panel? If she hasn't make sure you have one done, and the endo if you choose to have it. Both tests have high false negative rates so do try her on the diet after all the testing is done.


Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying

"I will try again tommorrow" (Mary Anne Radmacher)

Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002

Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis

All bold resoved or went into remission in time with proper diagnosis of Celiac November 2002

 Gene Test Aug 2007

HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

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She has had four negative blood tests, two negative scope/biopsies, and positive Enterlab stool results and diet removal results.

What is telling you she was positive on DQ9? I have no idea how to read this results at all!

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She has had four negative blood tests, two negative scope/biopsies, and positive Enterlab stool results and diet removal results.

What is telling you she was positive on DQ9? I have no idea how to read this results at all!

it IS confusing-> it's easier if you read the "Serological Equivalent"-> which shows your daughter has one DQ 6 and one DQ 9.

once you do more of your own homework- you'll see that there are more DQ genes possibly involved with Celiac

also- many people get false negatives with blood AND biopsies... many times people don't get a positive test result untill they've become TOO sick ...

good luck-


1986- Elevated Speckled ANA/no Lupus.negative Sjorgens

2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.

no biopsy (insurance denied)

6/2010- Enterolab Gene Test:

HLA-DQB1 Allele 1 0302

HLA-DQB1 Allele 2 0302

HLADQ 3,3 (subtype 8,8)

7/2010- 100% Gluten Free

8/2010- DH

10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

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She has had four negative blood tests, two negative scope/biopsies, and positive Enterlab stool results and diet removal results.

What is telling you she was positive on DQ9? I have no idea how to read this results at all!

IMHO the truest test is removing gluten. If she improved when gluten was removed that combined with the positive stool tests would encourage me to follow the diet.

As the other poster said this:

Serological Equivalent: DQ 6, 9

Is what shows she is DQ9


Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying

"I will try again tommorrow" (Mary Anne Radmacher)

Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002

Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis

All bold resoved or went into remission in time with proper diagnosis of Celiac November 2002

 Gene Test Aug 2007

HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

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