DMD Deletion/Duplication

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): 

DMD

Lab Method

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.