Rett syndrome (analysis of coding sequence MECP2 gene)
Analysis ID 11
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Rett syndrome (analysis of coding sequence MECP2 gene)
OMIM #312750
Clinical information Rett syndrome is a serious neurological disorder which affects female patients. The disease starts at the age of several months becoming more prominent in the second year of life. Patients affected by Rett syndrome show mental regression, microcephaly, characteristic, stereotypic hand movements, as well as epilepsy. Incidence of the disorder ranges from 1:10000 to 1:23000. The disease does not occur in males for whom it is lethal during embryogenesis.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes MECP2; METHYL-CpG-BINDING PROTEIN 2
Analysis description Sequencing analysis of coding sequence MECP2 gene allows for detection of 70-80% mutations.
Analysis indication
Analysis time to be adjusted individually
Refund Yes
CGM laboratory name Laboratory for molecular genetics