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@jeffjonestn

60 yr old diagnosed 3 yrs ago. Mild symptoms and currently on zero Rx. I would like info on where & what specific genetic tests I should have done. I assume blood can be drawn anywhere and shipped to testing lab. What lab & what tests to help my children be evaluated?

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Replies to "60 yr old diagnosed 3 yrs ago. Mild symptoms and currently on zero Rx. I would..."

Hi Jeff,
You may be interested in watching this Connect Video Q&A with Steven Lester, M.D., cardiologist, at Mayo Clinic in Arizona. He talks about hypertrophic cardiomyopathy and genetics http://mayocl.in/2sgOtSn
I also encourage you to read the comments from members. Feel free to ask them questions too.

You would be best served to find a cardiac team that specializes in HCM who also has a cardiac genetic counselor to order the proper tests for you. There are several companies that offer genetic tests for HCM, but you want to make sure that they order the most up to date panel, as new genes are being discovered all the time.

Where do you live?

As far as your children, all of your first degree relatives should be checked with a cardiac exam, including an echocardiogram. Children/adolescents between the ages of 12 – the end of puberty should be re-tested every 12 – 18 mos. until they show symptoms or stop growing. At that point, it can slow to every 5 years as long as they don’t show any signs.

If you are able to have the gene that causes HCM identified in yourself, then you could test them to see if they also carry the gene. If they don’t, then they can stop testing.

Here is a link to a page in the blog that I write about HCM about genetics and screening with links to some more authoritative sources:
https://hcmbeat.com/home/
Let me know if you have more questions.

Hi Jeff, my physician at Mayo said that in regard to HCM, a genetic test is still not full proof. My family was tested after I was diagnosed and I was told that the echocardiogram test is the best indicator of the disease, at this present time Thanks

Hello @jeffjonestn,

It’s great to see you return to Connect; I’m so glad that you chose to post in this group.

In addition to Colleen’s recommendation, I would also encourage you to view these links from Mayo Clinic about Genetics and Cardiomyopathy:
Video: http://mayocl.in/2rxC61C
Mayo Clinic Q and A: Hypertrophic Cardiomyopathy May Not Cause Symptoms Until Later in Life: http://mayocl.in/2rKWCjn
Genetics and Cardiomyopathy: Mayo Clinic Radio Health Minute: http://mayocl.in/2ryfjTl

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