Smith Magenis Syndrome Deletion

Test Background

Most patients with Smith-Magenis syndrome (SMS) have a deletion of ~4Mb at 17p11.2. All deletions associated with SMS involve the RAI1 gene. The majority of SMS features appear to be due to haploinsufficiency for RAI1. Some FISH probes do not include the RAI1 gene; in such comparisons, MLPA would be a more sensitive test for SMS. This laboratory performs deletion/duplication by MLPA of this region.

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.

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