Laboratory Test Information Guide

Details for Rett Syndrome

Test Name: Rett Syndrome
Alternate Name(s): MECP2
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Test Schedule: As required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
3 months
Reference Range: See report
Effective Date:  
Revised Date: 2021-05-14
Critical Value: N/A
Interpretive Comments: Rett syndrome, represents one of the leading causes of mental retardation and developmental regression in girls. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). The MeCP2 protein binds methylated DNA and appears to regulate gene expression and chromatin structure. Genotype/phenotype analysis reveals that the phenotypic spectrum of MeCP2 mutations in humans in broader than initally suspected, and mutations have been discovered in Rett syndrome variants, mentally retarded males, and autistic children1. The MeCP2 protein is coded for by three exons which can be analysed by direct sequence analysis of PCR-amplified genomic DNA derived from peripheral blood leukocytes, the larger exon #3 being analysed in three overlapping fragments.


1. Neul J. and Zoghbi H. Rett Syndrome: A prototypical neurodevelopmental disorder. The Neuroscientist. (2004) 10:118-128
Special Processing:  
Comments: For more information click on:

Molecular Diagnostic Laboratory
Method of Analysis: DNA Sequence Analysis
Critical Information Required:  
Storage & Shipment: Must be received in testing laboratory within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Referred To:  

Questions? Comments? Contact Laura Gopaul