Hi all,

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)?

 

Thanks,

Amrit

 

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They typically only look for your son's mutation. It's lower cost that way.

thanks Keith that helps.

I just got tested for carrier yesterday.  The whole mosaism thing i found out about researching has gotten me a bit worried/concerned. I have a three year old daughter.

When I was tested for carrier status they made me sign a paper stating that I understood that my daughters could still be carriers even if my test came back negative for carrier status.

Hi Kathleen,

did they test the whole gene just look at the mutation of your son? Thanks. Amrit

Kathleen Devine said:

I just got tested for carrier yesterday.  The whole mosaism thing i found out about researching has gotten me a bit worried/concerned. I have a three year old daughter.

Hi Janine,

did they test the whole gene just look at the mutation of your son? Thanks. Amrit

Janine said:

When I was tested for carrier status they made me sign a paper stating that I understood that my daughters could still be carriers even if my test came back negative for carrier status.

My son was tested on July 2nd at Boston Childrens Hospital they drew the blood to see if I am a carrier when we just went back on Monday. I think they were going to look for the same deletion because they said my blood work would be linked to his blood work information 

My son has 52 exon deletion. so they have checked same mutation for me as well.

I believe that is the way carrier testing works. They simply look for the same mutation.


 
Amrit said:

Hi Janine,

did they test the whole gene just look at the mutation of your son? Thanks. Amrit

Janine said:

When I was tested for carrier status they made me sign a paper stating that I understood that my daughters could still be carriers even if my test came back negative for carrier status.

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:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and here:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and/or email me at holly@parentprojectmd.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.


Hi Polly, thank you so much for the links about carrier status.  My mother  had 5 boys who are now grown and no DMD.  Her mother had 4 healthy boys.  There is really no history of DMD until my son.  I only recently had blood work done so I do not have any results.  I am 37 and no definet plans for more children but I wasnt yet ready to say no more kids.  I have two and always thought more.  The idea of germline mosaicism was hard to digest.  Thank you so much! Katie Devine
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 argeted 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:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and here:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and/or email me at holly@parentprojectmd.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.

Hi Holly

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?

Thanks,

Amrit

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:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and here:

https://www.duchenneconnect.org/index.php?option=com_content&vi...

and/or email me at holly@parentprojectmd.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.

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