Test Background

The majority (2/3) of dystrophin mutations are exon(s) deletion or duplication. The MLPA test is expected to have greater sensitivity and specificity than quantitative multiplex PCR for detection of deletions or duplications for all the exons. Approximately one-third of dystrophin mutations are sequence alterations. We do not offer DMD sequencing as a stand alone test, but sequence alterations can be evaluated as part of our Pediatric Neurology Region of Interest test.

Gene(s)

Lab Method

MLPA