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Genotyping

Peta

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Peta Explorer
Peta
Posted

Took my 15 year old son to the doctor again today.

He is still very low in iron and is awaiting a biopsy (hopefully in the next few months).

He has had the HLA DQ2/DQ8 genotyping for Coeliac.

The results were:

HLA DQ2 Alleles

DQA1 *05 Positive

DQB1 *02 Positive

HLA DQ8 Alleles

DQa1 *0301 Positive

DQB1 *0302 Positive

The doctor seems to be pretty sure from these results that my son has celiac?

Doesn't this just mean he is predisposed to coeliac but doesn't necessary mean he has it?

I questioned that the serum test (antibodies) came back negative but he said that the genotyping for Coeliac gives a clinical positive to coeliac so we now just need the biopsy to prove it?

Can someone tell me if this gene test says anything more than he carries the gene?... it doesn't mean a positive clinical testfor celiac though does it?

I feel that you 'experts' can probably interpret the test results better than the doctor.

Thanks for any opinions.

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psawyer Proficient
psawyer
Posted

A positive genetic test means that he is susceptible to celiac disease. It does not diagnose anything. Only about ten percent of those who carry the genes develop the disease. Low iron is a common symptom.

False negatives, especially in young children, are common on both the blood test and the biopsy.

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