I want to get my carrier testing done.
1) I do not have plans to have more kids.
2) I want to know only for my health condition, since carriers have some chances of heart problem
Do you think i should look only for that mutation?
Instead of going through whole gene, will it help to just look at 48-52 (my son's mutation)?
Hi Amrit. Yes, one important reason for carrier testing is to learn about what heart screening and care might be needed. There is actually no test for mosaicism though; it is just a known limitation of carrier testing. If you are not found to have the mutation that your son has, your chance for heart effects are much lower.
Thanks for your reply.
I am not planning to have more kids. I only wanted to get tested for my health(heart issue).
I guess I dont need germline mosaicism in that case?
Holly Peay said:
Hello Amrit, I'm Holly Peay from PPMD, and I am a genetic counselor. You and the rest of the responders are correct--if the mutation in the family is known, carrier testing is targeted to look for the same mutation. And as others have mentioned, it is important to talk to your healthcare provider about the chance for germline mosaicism. It is not possible for genetic testing that is done on your blood to rule out the chance for mosaicism in your eggs, so unfortunately a "negative" carrier test result does not mean that there is no chance to have a child with Duchenne or Becker muscular dystrophy.
You can read more here:
and/or email me at firstname.lastname@example.org (give me a day or two to respond though, since our server is still down due to the storm) if you want more details.