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Muscular Dystrophy Board Index
Pages: 1Showing 1 - 12 of 12 for gene test blood. (0.013 seconds)


... I had my blood send to Athena Diagnostics somewhere in the US. I'm sure you can find information online about the tests they offer. ... (5 replies)
... I was diagnosed with LGMD 2B last year after a muscle biopsy. I also took a blood sample for a DNA test to confirm the diagnosis. After one year of waiting I finally got the result from this DNA test. It showed no mutation in the Dysferlin gene. ... (0 replies)
... of people with dysferlin deficiency have a "bad" dysferlin gene on chromosome 2. ... (5 replies)

Diagnosis
Oct 18, 2008
... but there is no DNA test or defined protein yet for this type. ... (15 replies)
Miyoshi Myopathy
Sep 6, 2005
... Biopsies, DNA testing, Blood Tests, you name it. My biopsy showed almost no dysferlin yet a DNA test showed my "dysferlin gene" to be normal. This is VERY strange and they know it. Of the Muscular Dystrophies, those caused by dysferlinopathy are rare. ... (23 replies)
... Hi Abigail, I read your reply and I know things are hard but here is some good news, when a child is a mutation, sometimes their condition is easier than boys who have inherited it from their mothers. Mark had loads of friends who has died from DMD and they got it from the gene in their Mother's, all Mark's friends were stick thin and died basically when they were very... (29 replies)
... Hi Abigail, I read your reply and I know things are hard but here is some good news, when a child is a mutation, sometimes their condition is easier than boys who have inherited it from their mothers. Mark had loads of friends who has died from DMD and they got it from the gene in their Mother's, all Mark's friends were stick thin and died basically when they were very... (29 replies)
**aphilk**
Feb 4, 2007
... TY for the quick response. Kind of frustrating, from one case to the next...one neuro to the next...one facility to next, access to this kind of panel LGMD test differs I guess. My neuro has never said a word about it. ... (2 replies)
**aphilk**
Feb 3, 2007
... Hello, My mother has limb girdle, but she's never been tested, so doesn't know !which type. I have the symptoms (primarily shoulder muscle weakness). I went to a physiatrist, and she ordered blood tests (not genetic, but testing for muscle enzymes). When all those came back slightly elevated, she sent me to a neurologist for an electromyography test (needles/shocking -... (2 replies)
... That's exactly what I did. I participated in the Inherited Diseases Study at NIH. They took blood to check for Calpain 3 Mutation, Fukitin Mutation, Myotillin Mutation.... ... (5 replies)
... with 66 types of MD. I've scored each one based on how close it matches my symptoms. Calpainopathy is 8th most likely on my list. But I was tested for it and the test came back negative. Here's what I can tell you though based on my collection of data. ... (22 replies)
... sts are usual if you know what I mean. I have seen a genetic counsellor but only once they went through all the genes. My son didn't need a biopsy they found the gene in his blood after his cpk test came back at just over 35000. ... (29 replies)




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