Finally Got Genetic Testing Results

[cityelle]

Hello to all! I've been reading the forum for years. Here is a little bit about me. In 2008, I begin to vomit EVERYDAY. The BMs were ruthless. The vomiting lasted for months. When it finally stopped I had a BM probably around once per month is I was lucky. Fastforwarding, in 2011 I finally went to the Dr. I told him I think I'm allergic to fiber. He says "maybe it's gluten." After googling the term, I finally stop eating it. At least I thought I did (hidden gluten.) I've been 100% gluten-free with minor incidents of being glutened here and there. When I have gluten in my system it's not gas, bloating, or constant trips to the restroom. It's a nightmare. I speak 6 to 8 hours USING the toilet, my hair falls out ( we're talking old man bald spots and receeding hairline - not sexy for a chick), I get itchy, my body gets pins and needles, + a bunch of other things.

 

Well, at the top of the year, I finally got the CELIAC DISEASE COMPREHENSIVE REFLEX PANEL 

Component	Standard Range	Your Value
IMMUNOGLOBULIN A	81 - 463 mg/dL  (MINE =105)
TISSUE TRANSGLUTAMINASE AB, IGA	<4 U/mL (MINE = 1)
Value Interpretation <4 Antibody Not Detected > or = 4 Antibody Detected

 

My genetic tests (HLA) came in this morning, but I don't think I'm reading it right. That or may I'm in denial because I can not eat a crumb anything containing gluten without getting sick for MONTHS.

INTERPRETATION		see note
The patient does not have the HLA-DQ variants associated with celiac disease. More than 97% of celiac patients carry either HLA-DQ2(DQA1*05/DQB1*02) or HLA-DQ8(DQA1*03/DQB1*0302) or both. Genetic counseling as needed.
HLA-DQ2(DQAX05/DQB1X02) - Negative
HLA-DQ8(DQA*03/DQB1*0302) - Negative
HLA-DQA1 - 01
HLA-DQA1 - 01
HLA-DQB1 - 0602
HLA-DQB1 - 0603

 

BTW, I have autoimmune problems (hyperthyroid) and a lot of systematic inflammation (like lupus but no dx). It's so much going on with me including allergies + mood intolerances. Yet, ALL of my blood tests came back negative. If I didn't have documented proof of how sick I get, I would probably  be locked up for a mental evaluation. 

Any leads or suggestions?

[mommida]

That is the  "normal" way of getting diagnosed for Celiac when you are eating gluten.

All the Celiac genes are not identified yet.  (They were asking for volunteers for genetic testing a few years back.  It could have been 11 years ago by now. )

If you have figured out eating gluten makes you sick, just don't eat it.  If you need a label, you are gluten intolerant.

[cyclinglady]

From my research, the genetic test is given to help rule out and NOT diagnosis celiac disease.   It is thought that some 30% of the population carries the standard celiac genes just a few go n to develop celiac disease.   Not having those genes is a good sign you might never develop celiac.  There are some rare people who have different genes but still end up having celiac disease.  Why?  Science has not caught up yet and those genes have not been identified or studied enough.  That is why a genetic test is only used to help rule out celiac disease.

Were you consuming gluten for 8 to 12 weeks daily prior to the TTG test?   If not, the result is invalid.  Unfortunately, you have to be consuming gluten for the celiac tests to work.  You could be like me.  My TTG tests are always negative.  I test postive only to the DGP iga test.  My biopsies revealed intestinal damage.  You did not have the complete celiac blood panel.  

If you have been gluten free and are seeing improvement, you might just continue on without a diagnosis.

I wish you well!  Welcome to the forum.   

[cityelle]

12 hours ago, mommida said:

That is the  "normal" way of getting diagnosed for Celiac when you are eating gluten.

All the Celiac genes are not identified yet.  (They were asking for volunteers for genetic testing a few years back.  It could have been 11 years ago by now. )

If you have figured out eating gluten makes you sick, just don't eat it.  If you need a label, you are gluten intolerant.

Hi Mommida. Thank you for the info.

[nora-n]

You are double DQ6, which is more a gluten sensitivity gene

We have had at least two celiacs with DQ6 here

your Ttg-IgA was negative
DGP was not run I think, nor EMA

[mommida]

My genetic test result from Prometheus labs was very puzzling.  The doctors office did not give me the results, but informed me I was negative for the Celiac genes.  (12 years ago)  Now I really questioned this because my daughter's result was positive for 2 Celiac genes DQ2 and DQ8.  I wanted the test done over again, because they couldn't even tell me if I was genetic match to my daughter. I paid a lot of money that was not covered by insurance.

Prometheus labs said NO WAY they would do it over again.  They prompted stated I was part of the known 2% off tests that would not test positive for the gene, genes mutate, and that every lab blood test has at least 30% human error factor.

This is from what is considered to be one of the best genetic testing labs of the world.  As they are used for testing Egyptian mummies and other such historical documentations worldwide.

Genetic testing is only so far along and now there are more discoveries of chimeras.  That is when one living being is formed by DNA of separate beings.  Think of it as fraternal twin demise with the other surviving twin absorbing the body of the "lost" twin.  If you care to look into this further...  a recent article Unborn uncle fathered man's child or a documentary "I am my own twin".