Miller-Dieker Syndrome Deletion

Test Background

Miller-Dieker syndrome is caused by large deletions of 17p13.3 affecting the PAFAH1B1 gene (also known as LIS1). Deletion of LIS1 is responsible for the lissencephaly, but microdeletions often include the adjacent genes HIC1 and YWHAE. This laboratory performs deletion/duplication by MLPA for this region.

Gene(s)

HIC1, YWHAE

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.