Where did you guys do the genetic testing? I beleive one in the Utah is the one with best technology. My son's blood was sent to Boston.
Reason i am asking is that one of my friends son's was tested was twice at different places and he got a different mutation 2 times. I asked about it in Cinicinati with gentic consouler and she said it could be possible bec of the technologies used at 2 different place.

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Hi Amrit,

That sounds weird, getting two different DNA results. I bet if your friend contacts Duchenne Connect they could explain it. We did our test at Univ of Utah, only once.

cheryl
We had this with Jack and when we had our genetic couselor contact Baylor they confirmed that they "read the wrong line" and that the results from Utah matched theirs once they did a review. Had we not requested testing with Dr. Flanigan at Utah, we would still think Jack had a deletion at exon 24 and he would not be participating in the PTC124 trial at this time. I would ask that both sites review their data!!!

Ang
Genetic Consuler at Dr Wong's office told me it could be possible bec of the technologies and she would go by result at the univ of utah.
Because of this i am also thinking of redoing the genetic test at the univ of Utah.
Amrit

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