blood test

[Stephanie'sbigheart]

Dr. Fett,


As I continue to wait for my NST records I cannot help but think that this could be (FDCM) instead of (PPCM) with my father having CHF. I was told by my cardio that the NST showed a 49 % EF but I wanted to see the rest of the records to see what my researve indicated. I found an old thread where you mentioned that one can have blood test to dermine this factor. Can you tell me how to get this test and who would be willing to do it? Do you think it is costly?

Thank you,

Stephanie


old thread

Familial dilated cardiomyopathy (FDCM)is a possibility, although I doubt that is the case because of the marked improvement you have had. Treatment of familial dilated cardiomyopathy will certainly improve the EF, but not likely in the extent that you have had. There are genetic markers for FDCM that can be found on blood testing. There could be some merit in doing that, particularly for the sake of other family members, such as sisters and daughters, or even brothers and sons. Looking at your history, I would say there is definitely a possibility of further improvement and eventual withdrawal of meds, although life-time medication is not uncommon.

[Deb]

Stephanie,
Sorry to barge in to this thread, but I just wanted to let you know what I'm doing. I, too, feel my CM could be genetic. I agreed to participate in a genetic study and they took blood for tests, this study is free. My insurance also covers genetic testing and so I'm having them pay for it, that way it should provide quicker results.

The genetic tests are rather expensive. The first series they'll do is around $3000, we have to pay for it and then will be reimbursed. The second series, if they don't find a gene in the first series, is $2000 and then the price gets lower after that. It's worth it to us though - we have 4 kids and I'm adopted and don't have a lot of family medical history.

[Stephanie'sbigheart]

Deb,

Thank you for your response. How did you go about getting your insurance to pay for it or did the study take care of that part? I am very interested in finding out if I have this gene but I am clueless as to how to go about it.

Thanks,

Stephanie

[Stephanie'sbigheart]

oh,

Is this study still excepting volunteers if so I would love to do it too?

[Deb]

I asked my doctor at BWH in Boston about whether he could do genetic testing on me. He said their genetics dept is always looking for people willing to donate their genes for testing. While discussing the testing with the genetics counselor, I asked if they could check with my insurance company to see if they would cover it too.

They called my carrier and got it approved. I'm hoping to get the test results in 4-6 weeks. But, I do have to admit I'm a little scared, as I need to be prepared for the results and whatever they may mean....

[Stephanie'sbigheart]

Deb,

Do you have any contact information so that I might be able to participate? I wish you the best on your results. Please keep me updated! ;-)

[JAMESFETT]

I would approach that through a geneticist at the nearest University Medical Center. They would be aware of current studies and also what pertinent chromosomal patterns one is seeking to know about, in this case, those associated with Familial Dilated Cardiomyopathy. Normally, a participant in a research study does not pay anything; the research project, if scientifically sound and funded, would have funds to cover that. I might have suspected that specific search for chromosomal patterns might be in the few hundred dollar (like $200-$300) range for actural cost per DNA pattern or gene.

JD

[Deb]

The reason we chose to have our insurance cover the testing is because the hospital told us that for the "free" study testing, they don't have a timeframe as to when the tests would be done. It's done as time and money allow.

The $3000 test is a group of tests that check for a whole series of genes. The $2000 test then tests for another whole series of genes. At least, that's the way I understood what I read and what the geneticist told me.