Testing & Diagnosis

Angelman syndrome (AS) is always caused by a lack of functional UBE3A protein in the brain. Because there are different genetic causes, also called genotypes, for the lack of UBE3A protein, testing for AS can be very complicated!  It can be frustrating and overwhelming, as it can take multiple tests and many months to get to the diagnosis and genotype. 

The available tests for AS have changed over time, and some were previously unavailable in Australia. This may have led to tests being sent overseas or not conducted at all. If you were tested before newer methods became available and still suspect AS, it’s important to speak with a medical professional, as both genetic testing and our understanding of AS have improved.

This page is still under development, it is our hope that we can illustrate testing in the Australian environment to make this page specific for Australian families.