Gene diagnostics of Rett syndrome, search for mutations in the MECP2 gene

Rett syndrome is a socially significant genetic syndrome leading to regression of psychomotor development, autism, mental retardation, and often the development of epilepsy in girls. The disease is associated with mutations in the MECP2 gene, which is located on the X chromosome. The study is intended for the diagnosis of the typical variant of Rett syndrome. All point mutations in the coding region of the MECP2 gene are investigated.

Within 10 days. The specified time does not include the day of biomaterial collection