Isolated myalgias 5. Cardiomyopathy and 6. The remaining cases are caused by point mutations in the dystrophin gene. Due to the high mutation rate, the frequent occurrence of germline mosaicism and the high frequency of intragenic recombination, linkage analysis on families is subject to error. Obtaining a definitive genetic diagnosis by direct DNA analysis is therefore most accurate in patients with the disease.
Genetic analysis is performed by multiplex DNA amplification.
Ship sample at room temperature within 24 hours. If you cannot send the specimen the same day as it was collected, hold at room temperature and send within 48 hours. Prenatal Diagnosis from CVS or Amniocentesis Call first.