Adult Minimum: Collect TWO 6 mL pink top (EDTA sprayed) tubes Child Minimum: Collect ONE 6 mL pink top (EDTA sprayed) tube Infant Minimum: 2-6 mL whole blood from pink top (EDTA sprayed) tube Please contact the laboratory for specific requirements for prenatal testing.

Rett syndrome is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene which encodes the Methyl CpG Binding Protein 2 transcriptional repressor. Rett syndrome affects ~1 in 10,000 females with symptoms including loss of speech and purposeful hand use, microcephaly, seizures, ataxia, and stereotypic hand movements. MECP2 mutations manifest a broader spectrum of clinical phenotypes in female and rare male patients, with features overlapping with other mental retardation disorders. Mutations in the MECP2 coding region can be detected by sequence analysis in up to ~85% of Rett cases (see MECP2 Sequencing Analysis). In addition, large MECP2 gene deletions have been identified in approximately 10% of Rett patients. Sequencing has an analytical sensitivity of ~99% for point mutations. Up to ~95% of classic Rett patients have small or large mutations in the MECP2 gene.