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Has The Gene Test Failed You?

kookaburra

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kookaburra Rookie
kookaburra
Posted

My son has classic celiac symptoms. We've done the gluten challenge, which overwhelmingly has confirmed it. We've challenged it twice (with oats), ad he responds like a celiac. It seems so incredibly open and shut, yet he has had a negative Prometheus gene test.

Anybody out there had a negative gene test then later tested positive for Celiac?

thank you so much for your help.

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Guhlia Rising Star
Guhlia
Posted

First, let me say that I think you're doing the right thing by keeping him gluten free if gluten makes him sick, regardless of the diagnosis. Second, keep in mind that not everyone who is sensitive to gluten actually has Celiac Disease. It's possible that his sensitivity is caused by gluten intolerance rather than Celiac. Also, it's possible (unlikely, but possible) that he has Celiac even without the known Celiac genes. Has he been through the blood testing or endoscopy yet? Either way, the resulting treatment will be the same, the gluten free diet. You've already proven that he reacts very poorly to it. Hats off to you for accepting dietary response as a good enough reason to withhold gluten! Some parents will not put their children on a gluten free diet without positive test results.

CarlaB Enthusiast
CarlaB
Posted

I've heard of one person on this board who tested positive by biopsy and blood test for celiac and has 2 DQ1 genes (not celiac genes).

I am negative for celiac, and negative for celiac genes. Small amounts of gluten make me sick and I presented the "classic celiac" symptoms. Some of us just can't tolerate gluten!!

mommida Enthusiast
mommida
Posted

I won't go through any further testing to get the "gold standard" diagnoses.

My daughter and I are equally sensitive. Our genetic tests were done by Prometheus labs. She has DQ2 and Dq8 celiac genes, mine tests we negative for known celiac genes. If we were both diagnosed to the "gold standard" we would have been included in the study at Columbia for the "missing" parent Celiac gene.

Another thing to remember... Before the blood draw the test was said to be 99% accurate. After the test results Prometheus labs said that EVERY blood test has at least a 30% error rate, genes mutate (how can a biological mother child not genetically match?), or my test was the 1% the test was not going to pick up.

Another thing... not every insurance company is going to cover "new" technology and you might have to pay for genetic testing out of your own pocket.

L.

kookaburra Rookie
kookaburra
Posted
  • Author

I won't go through any further testing to get the "gold standard" diagnoses.

My daughter and I are equally sensitive. Our genetic tests were done by Prometheus labs. She has DQ2 and Dq8 celiac genes, mine tests we negative for known celiac genes. If we were both diagnosed to the "gold standard" we would have been included in the study at Columbia for the "missing" parent Celiac gene.

Another thing to remember... Before the blood draw the test was said to be 99% accurate. After the test results Prometheus labs said that EVERY blood test has at least a 30% error rate, genes mutate (how can a biological mother child not genetically match?), or my test was the 1% the test was not going to pick up.

I appreciate the detailed answer. After taking the gluten challenge & testing it twice, I just can'tbelieve it ain't so (I have a hard time believing he doesn't have it). I guess I just have to find it in me to have faith & proceed with the gluten-free diet without that piece of paper. I tell you, though, the paper would sure be helpful with schools and in-laws in particular. I feel like I'm fighting against the tide.

happygirl Collaborator
happygirl
Posted

I've read the story of the girl(?) who was a biopsy confirmed Celiac and did not have the "celiac" genes. It was amazing. Does anyone have the link to share?

Laura

confused Community Regular
confused
Posted
I've read the story of the girl(?) who was a biopsy confirmed Celiac and did not have the "celiac" genes. It was amazing. Does anyone have the link to share?

Laura

I would love to read it also. I am convinced i have celiac also and i dont have the celiac gene. I have scheduled an appt to have an biopsy of my rash, it looks exactly like DH, and dont that say if u have DH you automatically have celiac.

I am almost tempted to even do an new gene test and see if i come up with the same genes.

Do all labs come up with the same genes (promethesus vs entrolab)

I truely beleive there are other celiac genes out there that they have not found yet. Does anyone have a good book that goes into detail about the genes. I have done some searching online this morning, but havent found too much good information to read. I also wanted to find some good information about celiac/gluten and different nationalities.

any help would be appreciated

paula

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mommida Enthusiast
mommida
Posted

Not having the paper han't been a problem with school, just tell them what happens when gluten gets ingested. The big "D" word or projectile vomit or both at the same time gets the point accross. They don't want to clean up a mess like that, and will take your word for it.

As for in-laws they might be a little harder, just tell them how it is. Invite them over to deal with the aftermath of a gluten accident.

L.

If I remeber right wasn't it ms. celiac (sillyyak) screwed's personal blog that had the link to diagnosed celiac with no celiac genes?

nora-n Rookie
nora-n
Posted

mommida, you simply must have either DQ2 or 8 if your daughter is DQ2-DQ8.

She got one allele from you, and one from her father.

If not, you must be a chimera, and still have DQ2 or 8 in the intestines, but non- DQ2 or 8 in the sample you gave.

nora

mommida Enthusiast
mommida
Posted

The chimera thing is a joke between my husband and I. I really like to just blame the lab that drew the blood and Prometheus labs for some type of mistake. I secretly wonder if my results were mixed up and there is some poor sap on a gluten free diet for no reason.

L.

My husband is finally having the screening done. He has finally admited a difference when he eats gluten.

Nancym Enthusiast
Nancym
Posted

I'm reading a book on genetics and learned last night they've only identified about 1/2 of what the human genes do so far. So there's plenty of room in there for additional genes that haven't yet been identified.

nora-n Rookie
nora-n
Posted

Mommida, I think you should ask the lab to re-do the test. Obviously either they screwd up, or you are a medical sensation (chimera)

BTW, someone posted about chimeras the other day, they called it non-identical twins or semi-identical twins. (they were hermaphrodites)

mommida Enthusiast
mommida
Posted

I got their "well the test really isn't that accurate, lost 2% of unidentified genes, mutating genes, and blood draw/handling errors" response when I asked for the test to be redone. I asked for a comparison to my daughter's test to show mother /daughter relationship to prove it was my test or someone else's.

My husband and I watched the show "I am My Own Twin" and learned about the Chimera cases with no visible clues. We definately joke about it, but he has faith - "If any one in the world could be, you would." Who was posting about Chimeras? There is also something called fetalmaternal microchimerism (don't trust my spelling on that please) After a woman has had a pregnancy, genetic material from the child has been found in the woman's body including the bone marrow- year's after the pregnancy.

My husband is having the blood draw for screening and I think they are going to do the gene test too. (I think the doctor is really curious about the gene test too. My daughter really looks exactly like me to the point people have said she is my clone.)

L.

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