Test Background

Approximately 80% of patients with a diagnosis of Rett syndrome have a mutation detected by DNA sequencing analysis. Of the remaining 20%, a minority will have a deletion as the cause of Rett syndrome, which will be detected by MLPA assay. Duplications involving MECP2 and the neighboring gene L1CAM are associated with severe mental retardation and progressive neurological symptoms in males. This laboratory performs both Sanger sequencing of the MECP2 gene as well deletion/duplication by MLPA.


Rett syndrome



Lab Method


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.