Genetic Testing For Rett Syndrome

Rett syndrome (RTT), a neurodevelopmental disorder, is usually caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene. Genetic testing is available to determine whether a pathogenic variant exists in RTT-associated genes (eg, MECP2, FOXG1, or CDLK5) in an individual with clinical features of RTT or an individual's family member.