UBE3A Sequencing

Test Background

Angelman syndrome is characterized by developmental delay/intellectual disability, speech impairment, ataxia, and unique behavior of inappropriate laughing, smiling, and excitability. Methylation-sensitive MLPA analysis is used to detect a deletion of the 15q11-q13 region and/or methylation defect. This testing identifies approximately 75% of individuals with Angelman syndrome (70% due to maternal deletion, 5% due to paternal UPD). Approximately 10-15% of cases are due to sequence variants in the UBE3A gene.

This laboratory performs Sanger sequencing of the UBE3A gene.

Gene(s): 

UBE3A

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.