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.