Angelman syndrome (AS) is always caused by a lack of functional UBE3A protein in the brain. Because there are different genetic causes, also called, 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.
MC to get feedback from Emma & Rani re genetic testing evolution in AU and who needs to order it
Keep in Touch
© 2025 FAST | All Rights Reserved.