Rett syndrome

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Rett syndrome is a serious neurodevelopmental disorder that occurs almost exclusively in girls. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Affected girls lose purposeful use of their hands and begin making stereotypic hand movements. They have microcephaly, seizures, and mental retardation. Rett syndrome exhibits a broad heterogeneity in severity of disease, clinical symptoms and disease progression, while there are several atypical forms of the disease. Estimated frequency of affected individuals is 1/10.000-15.000.

Rett syndrome is caused in most of the cases (~80%) by mutations in MECP2 gene, located on the X chromosome. It is inherited in a A-linked dominant pattern. About 10% of cases is caused by large deletions in the same gene.

Method

Analysis of the coding region of MECP2 gene is carried out using Next Generation Sequencing technique. Upon negative results, detection of deletions in MECP2 gene is conducted using the MLPA technique, as an additional test.

Sample type: Peripheral blood in EDTA

Time to result: 4 weeks for MECP2 gene sequencing and 2 weeks for deletion/duplication analysis of MECP gene