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Hey LindaS
I see I'm the first one to see your post. I hope others will chime in also.
I'm a little confused by the background you gave, but here is what I know based on my experience:
1) Blood is drawn from likely BMD patient. This is sent to a few labs in the nation, where they will sequence the dystrophin gene. This sequencing basically compares the DNA gene construction against a healthy person. This testing took 2 months in my case as the sequencing process is somewhat tedious and varies with lab workload.
2) A genetic problem is likely detected, usually a deletion (can be small or large deletion) of part of the gene in a particular spot. There are also cases of duplications, where there are extra parts in the gene. In any case, these issues vary greatly from person to person and it is possible that the genetic issue is unique to you or your family. If there is no issue, then it is not likely MD.
3) Once a genetic issue is verified for the BMD patient, then they draw blood from parent(s) to determine if the genetic issue was inherited. My mom was tested as a carrier, but did not have the genetic issue I had, so therefore this problem happened spontaneously in me and wasn't inherited.
4) Muscle biopsies are not a genetic test. Muscle biopsies are used as secondary evidence to try and guess how severe the MD issues may be. They look at the muscle tissue and determine how much dystrophin is being produced in the muscle. Biopsies are usually taken in the thigh or back of the arm. Doctors try to use this information to guess if a MD child will have severe issues (DMD) or less severe (BMD). There is no concrete way to know strictly on the genetic test results, so muscle biopsies can be useful, but not conclusive in all cases. In my experience, it was inconclusive and not very helpful....but I was glad I did it. I would not sign up to do it again...and I wonder why 2 were done in your case.
Hope this helps.
Kevin |
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K. Goodfellow |
