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 Subject :Confused........ 2008-04-01 02:20:29 
JCTSMOM
Newbie
Joined: 2008-04-01 02:15:28
Posts: 2
Location: 
Could someone please explain what "This individual possesses one hemizygous DNA sequence variant of unknown clinical significance in the DMD gene" means? My 9 year old son had genetic testing done to rule out Becker's MD. There is a stong family history on my side of the family (maternal grandfather and 5 of his brothers). There have been no other instances of it since that generation. I am really confused as to what the results are. TIA
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 Subject :.. 2008-04-01 14:16:26 
kgoodfellow
All Star
Joined: 2007-02-20 17:21:41
Posts: 679
Location: Denver
I'll take a guess at the translation...I'd have your doctor translate for you. That's why you pay them the big bucks. :) To me this means that there is something abnormal with the muscular dystrophy gene, but it is not a common variation and they are not sure if/how it may affect your son. Kevin
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K. Goodfellow
 Subject :.. 2008-04-01 21:39:54 
JCTSMOM
Newbie
Joined: 2008-04-01 02:15:28
Posts: 2
Location: 
Thank you Kevin, that's what I was afraid of I guess. This has been like a rollercoaster for us. On th eone hand, I want a definitive answer, but on the other, I'm not sure I really want to know. Is there any further testing that can be done to give us a definitive answer? I know a muscle biopsy is a hit or miss type of situation and it doesn't sound like it's the end all be all kind of test. Thank you again.
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