Newbie - Genetic & Celiac Testing Resultsquestions

[discountshopper]

I was originally tested for Celiac because my 10 year old niece tested positive and my 5 year son has had "intestinal issues" for a couple years. I was told that in order for insurance to cover his testing costs he would have to have a first degree relative test positive. So, while I did not think I personally would test positive I did it because I wanted to get my son tested.

My genetic test results came back positive for HLA DQ2 (DQA1*0501 - DQB1*0201) and my blood tests only showed "equivocal" in one area, Tissue Transglutaminase AB, IGG (although not IGA). I am scheduled for a biopsy in 2 weeks.

My test results allowed testing for my son, who tested positive for HLA DQ2 but negative on the blood tests and (currently) negative on the biopsy.

My niece (who was the first to be identified) was not genetic tested, blood tested equivocal in only 1 area (TTG Ab IGA), and tested absolutely positive on the biopsy.

My question is this -- several other family members have tested DQ2 positive but negative on the blood tests (no others have been biopsied yet). With this family history, do you believe that a positive genetics test would constitute a positive Celiac diagnosis? Family members are scattered throughout the country (USA) and are getting conflicting information from their doctors. Most are being told that if they don't have "symptoms" then they shouldn't worry about it. Others are being told that they could try the gluten-free diet if they want to. No others are currently getting biopsied.

An interesting addition -- which will hopefully be pursued -- my father has auto-immune hepatitis. He tested negative on the celiac panel but did not do the genetic testing. His test results are probably skewed due to 12 years of Prednisone. He's quite resistant to further testing although has started a gluten-free diet just to see if it affects his liver enzyme levels associated with the AI-hepatitis.

How much weight do you give positive genetics testing in the absence of positive Celiac blood testing results?

[nettiebeads]

I don't blame you for being confused. The genetic testing is for the marker for celiac disease. Just because you have the gene doesn't mean you have celiac disease. What it means is that you have the ability to develop celiac disease if the right circumstances arise. And it also means that if you are having digestive issues that suggest celiac disease but negative test results for celiac disease but have the celiac disease marker, you probably would want to try the gluten-free diet anyhow. I have the strangest feeling that I probably didn't help at all because now I'm confused.

[KaitiUSA]

I was originally tested for Celiac because my 10 year old niece tested positive and my 5 year son has had "intestinal issues" for a couple years.  I was told that in order for insurance to cover his testing costs he would have to have a first degree relative test positive.  So, while I did not think I personally would test positive I did it because I wanted to get my son tested. 

My genetic test results came back positive for HLA DQ2 (DQA1*0501 - DQB1*0201) and my blood tests only showed "equivocal" in one area, Tissue Transglutaminase AB, IGG (although not IGA).  I am scheduled for a biopsy in 2 weeks.

My test results allowed testing for my son, who tested positive for HLA DQ2 but negative on the blood tests and (currently) negative on the biopsy.

My niece (who was the first to be identified) was not genetic tested, blood tested equivocal in only 1 area (TTG Ab IGA), and tested absolutely positive on the biopsy.

My question is this -- several other family members have tested DQ2 positive but negative on the blood tests (no others have been biopsied yet).  With this family history, do you believe that a positive genetics test would constitute a positive Celiac diagnosis?  Family members are scattered throughout the country (USA) and are getting conflicting information from their doctors.  Most are being told that if they don't have "symptoms" then they shouldn't worry about it.  Others are being told that they could try the gluten-free diet if they want to.  No others are currently getting biopsied. 

An interesting addition -- which will hopefully be pursued -- my father has auto-immune hepatitis.  He tested negative on the celiac panel but did not do the genetic testing.  His test results are probably skewed due to 12 years of Prednisone.  He's quite resistant to further testing although has started a gluten-free diet just to see if it affects his liver enzyme levels associated with the AI-hepatitis.

How much weight do you give positive genetics testing in the absence of positive Celiac blood testing results?

<{POST_SNAPBACK}>

A positive gene test just means you are predisposed to celiac and it can activate at any time in life. Some people do not get symptoms at all with celiac so you can't go by that..they should be tested every so often to make sure the gene has not activated celiac.

You may also want to get a complete blood panel done. There are some blood tests that are very accurate.

A biopsy can rule celiac in but not out. If it is in beginning stages and not damaged yet it could some back negative...if there is sporadic damage they can easily miss it..they only take a few samples out of your intestines which are huge. So even a negative biopsy can not rule out celiac.