Genetic Testing

[mamaw]

i'm sure this has been talked about before but I finally got my pcp to let me have the genetic testing, but he told me I would have to find out exactly what markers I wanted tested for. ( ANd I have to pay him ) Some docs are such idots but I agreed to find out everything I wanted . I just want to know what my genetics are regarding celiac.

SO I know I want to see if I have the DQ2 & 8 marker --- what else do I need to tell his guy???? I don't have time to read over all the old threads regarding this. And I want to do it while he is in the mood to let me do it....... He has no idea about any of this--- when I told him my daughter and grandson were full-blown celiac his comment was SSSSSSOOOOOOOOOO. DUh, I could have hit him.

It's pretty sad when patients have to inform wealthy doctors about illness'......

PlEASE anyone PM regarding this matter......

mamaw

[happygirl]

I actually have an article in front of me that I was reading ....

HLA-Dq2 and HLA-Dq8. One or both are presnt in 90 to 97% of Celiacs. However, these markers are in 25-40% of the general population, also. (i.e., so just having the gene doesn't mean we have it.)

Tell your dr (I'm sure you already know this!) that 1 in 22 first degree relatives and 1 in 39 second degree relatives have Celiac, also!

That's all I could find. I take it you have already had the blood work done?

[mamaw]

I had the bloodwork done and it came back false positive. Since the pcp doesn't give copies unless you pay a fee : I don't have the bloodwork . I know how much better I feel not eating wheat & gluten. I just wanted to know about the markers I may or may not have...

thanks

mamaw

[penguin]

  mamaw said:

I had the bloodwork done and it came back false positive. Since the pcp doesn't give copies unless you pay a fee : I don't have the bloodwork .

thanks

mamaw

Your Dr charges for copies of your bloodwork? Is that legal?!?!

[CMCM]

  mamaw said:

i'm sure this has been talked about before but I finally got my pcp to let me have the genetic testing, but he told me I would have to find out exactly what markers I wanted tested for. ( ANd I have to pay him ) Some docs are such idots but I agreed to find out everything I wanted . I just want to know what my genetics are regarding celiac.

SO I know I want to see if I have the DQ2 & 8 marker --- what else do I need to tell his guy???? I don't have time to read over all the old threads regarding this. And I want to do it while he is in the mood to let me do it....... He has no idea about any of this--- when I told him my daughter and grandson were full-blown celiac his comment was SSSSSSOOOOOOOOOO. DUh, I could have hit him.

It's pretty sad when patients have to inform wealthy doctors about illness'......

PlEASE anyone PM regarding this matter......

mamaw

Why don't you do the Enterolab gene test? It's $149. They send you the swabs, you follow directions in getting the sample (from your cheeks, inside your mouth) and send it back. Quick and easy!

With this doctor's attitude I wouldn't give him a penny. The money paid to Enterolab goes to their Intestinal Institute.

[mamaw]

yep, my pcp charges for copies but they will send them to another doctor for free...... Next time I go in I'm going to ask if this is his idea because he did get a new front office girl,,, The bell went off maybe she is pocketing the dollar for each copy. Wow, I hate to think that ,in fact that is a horrible thought so I truly hope I'm wrong about that!!!!!! She is kinda odd when I think of it............

I just may do the swab thing instead.

thanks

mamaw

[Rachel--24]

I second the recommendation of using Enterolab. Not only do they check for DQ2 & DQ8 (Celiac genes)...they also check for gluten sensitivity genes as well.

[Guest Robbin]

OMG!! I once worked in a drs. office where the front desk girl charged a quarter!! She was later fired for taking money from the petty change drawer!! What is your drs' problem? It's your money and you are paying him, after all. Doctors are in a SERVICE industry, aren't they?! Sometimes I wonder. I just did the enterolab because of loosing patience with my dr. It was very easy and the mailing couldn't have been easier either. Forgive my ignorance, but how can a positive be false? I thought a positive was nearly 100% ?

[mamaw]

I wish I knew the answer to the false positive thing as I have asked a zillion times to explain that one to me.... Doctors really suck... They just want money . I just try to stay gluten-free. but I was curious if I had the two genes DQ2 & DQ8. I thought maybe I could get ine ins to pay since it was close in my family. I also have to hace the testing pre-approved by my crappy ins. Been waiting about a week for that so I probably will have to do mailorder and pay. I don't know why we have to have ins. as mine pays next to nothing but they charge me like crazy.

So which is the best and most reliable for gene testing?????

thanks

mamaw

[CMCM]

  mamaw said:

I wish I knew the answer to the false positive thing as I have asked a zillion times to explain that one to me.... Doctors really suck... They just want money . I just try to stay gluten-free. but I was curious if I had the two genes DQ2 & DQ8. I thought maybe I could get ine ins to pay since it was close in my family. I also have to hace the testing pre-approved by my crappy ins. Been waiting about a week for that so I probably will have to do mailorder and pay. I don't know why we have to have ins. as mine pays next to nothing but they charge me like crazy.

So which is the best and most reliable for gene testing?????

thanks

mamaw

You have to have specific genes to develop celiac disease. Beyond the specifically identified genes, it is also believed that a number of other unidentified genes are perhaps involved as well.

Here's a capsule of what Dr. Green says in his new book:

HLA antigens are proteins found on the surface of almost every cell in the body. These HLS antigens patrol the immune system and identify other cells as either "self" or "nonself"--a foreign substance. Everyone has a slightly different version of these HLA proteins, but we each have 2 sets: one inherited from each parent. So we each react differently to different foreign substances.

HLA antigens are thought to play a role in the development of certain genetically predisposed diseases such as diabetes and celiac disease. This is because the genes that predispose people to autoimmune diseases may also control the HLA antigens.

SO....the 2 specific genes that have been recognized so far inceliac disease are part of the HLA class II DQ genes. These genes encode particular HLA proteins that are found on the cell surface, namely HLA-DQ2 and HLA-DQ8. 95% of celiac patients have the DQ2 and most of the remaining 5% have the DQ8.

SO....if you get the gene test you are finding out if you have this PREDISPOSITION. The gene test doesn't diagnose celiac disease, only the predisposition. That said, Dr. Fine of Enterolab says testing with the gene means, in his opinion, that you should stop eating gluten to PREVENT future reactions. If you have no symptoms (and many people are diagnosed when they have no discernible symptoms), there's always the possibility you will never get triggered into active celiac disease. In that case, it's your call I guess. By not eating gluten you are ensuring you will never get celiac disease and will never get the intestinal damage that could lead to a host of other serious problems, including cancer.

If you are having symptoms related to celiac, and you find you have the predisposing gene or genes, you need to go on the diet and see if the symptoms go away over time. There is less choice involved in this scenario.

I don't know how gene testing is done via a regular doctor, or how much it would cost, but thru Enterolab it's extremely easy and the results are completely clear when they come. The cost at Enterolab for just the gene test is $149, done with 2 q-tip like swabs which you rub on each inner cheek and then send back to them.

If you don't want to do additional testing at this time, I'd say it's worth it to just do the Enterolab test on your own and not involving your insurance co. I chose that route because as you said, the insur. co's make every darn thing a big deal and basically want to get out of covering most everything they can. I decided to bypass them because I didn't want my "rating" to go up (more $$$ to be iinsured).

You don't NEED to go thru a doctor to get the gene test,either.

[mamaw]

CMCM

thanks for the advise and the info. I think I will go the route you said as I'm sick & tired of my pcp p%$#@# footin' around.

mamaw