My son was recently Dx with DMD. There is no sign of it in my family and I suspect that I am not a carrier, but for my daughters sake, I need to find out. My MD says that only 1 place they know of does the test. It is @ the Univ. of Utah and they only accept cash. Anyone else know where to get tested?

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Hi Christine,
Please have your daughter tested. Even if you're not a carrier, your daughter still could be. I don't mean to alarm you, but inaccurate genetic counseling drives me crazy!

I'm not a carrier, but because I've done IVF with PGD, I found out that I'm a germline carrier with about 15% of my eggs affected. The only way of knowing for sure if your daughter is a carrier is to have her tested for your son's mutation. If you're a germline carrier, the mutation won't show up in your DNA.

Please have her tested before she considers having a family!
Take care,
Mindy
I live in Salt Lake City and I didn't have my test done at the University, I had my blood drawn at my regular doctor's office, they sent it to a lab in Boston I believe. I just paid my co-pay and insurance picked up the rest. My results came back as not being a carrier, I have no brothers, all sisters as siblings so I'm still wondering if my eggs were infected, my sisters or mother was never tested. I have 2 younger daughters and think I should have them tested if they are carriers just to ease my mind. If they are should I have my sisters or mother be tested? My sisters (3 of them) all have 1 son each, none effected. Just not sure what to do.
Christine,

Was your son diagnosed through a dna test? If he was then your test could be done at the same lab that his was done. In fact carrier testing is much faster because if you are a carrier your mutation would be in the same place as your son, so they already know where to look. If you do not use the same lab you would want to include a copy of your son's dna analysis, the lab my sisters used asked for a copy. As someone already said you may suspect you are not a carrier but just because it has not shown up in you family before does mean that you are not a carrier. I am a carrier, my two sisters are not, I have a brother who does not have dmd and many male relatives, no dmd before my son. I think also someone already mentioned that even if you are not a carrier your daughters still could be. In fact my mda doc made me sign a paper saying I understood that my two daughter could be carriers even if my test came back negative for carrier status.
We hope that you are'nt a carrier, in this case your two daughters are not a carrier and have a very tinny chances to have boys in the future with dmd<1/3500 .
Holly - since you're not a carrier, your sisters are no more at risk than the general population. So now, the remaining question to be answered is how many of your eggs are affected, which would determine how much risk your daughters have for being carriers. The only way to truly know is IVF with PGD, but if you're done having children, I would definitely have your daughters tested, when you and they are ready. Not only does it influence their decisions about having their own children someday, but there can be very treatable heart issues with female carriers as they get older, so it's something worth knowing.

Take care,
Mindy
Mindy, thanks for the advise, I will some day have my daughters tested. They are only 4 and 6 now. I'm a little confused about something, all this genetic stuff is way over my head. Any way, if some of my eggs were affected, didn't I get the affected eggs some where, like a parent or grandparent, how do you know?
Thanks,
Holly
hi all

in the uk we see a genetic councellor and testing is free

the way it was explained to me
you can be a carrier...inherited from your mum (she could have been a carrier or a germline carrier or you could have been a spontanous mutation)
a germline carrier... where a fault is made in making 'eggs' in your ovaries, which is then copied and so you have a 'batch' of these 'dmd eggs
or a spontanious mutation

when my son was diagnosed i was found not to be a carrier. i have another, unaffected, older son and two daughters.
i was given a percentage of being a germline carrier
we aren't supposed to have our daughter's tested in the uk until they are 16 (so they can understand and agree to the test)
as my daughter's have reached 16 they have been tested and are not carriers. each time the percentage of me being a germline carrier has been reduced

i won't be having any more children but am fully behind knowing and understanding the 'whole picture' and so being able to make informed decisions

take care
anne
Christine,

Just wondered if you were able to get that carrier test done?
Hi Holly,
Anne alreay explained this, but how it was told to me was that when I was a fetus, and my egg cells were developing, one of them mutated in the dystrophin gene. Then, all egg cells that were derived from that one egg cell also carry the mutation. The number affected depend on when the mutation happened in the egg development - early on, more affected, later on, less.
Mindy
After Joshua was diagnosed at birth, both my husband and I were tested at no cost. We live in Manitoba, Canada. He just ended up being one of those "flukes". Our oldest son wasn't tested since we were both negative and he was already 5 with no signs or symptoms. It isn't in the family anywhere either.

Naomi
I was not a carrier.
my insurance covered testing through baylor. you need to know your sons exact mutation to test for carrier status. then they should be able to do it with a southern blot. kevin flanigan does take insurance but last i checked (4 yrs ago) not for carrier staus checking. emory should be able to help you too.

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