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Gene Dx, MECP2 Del/Dup
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
906
Alias/See Also
MECP2 Gene Analysis in Rett Syndrome, Atypical Rett Syndrome and Progressive Neurodevelopmental Syndrome in Males
CPT Codes
81304x1
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Minimum Volume
A single tube with 1-5 mL whole blood in EDTA.
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for up to 7 days prior to shipping.
Transport Temperature
Ambient
Methodology
Exon Array CGH
Report Available
3-4 weeks
Clinical Significance
"Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include loss of speech and purposeful hand use, stereotypic hand movements, ataxia, microcephaly, and seizures. “Atypical” Rett syndrome can be milder or more severe than typical Rett syndrome and is diagnosed when some but not all clinical criteria for Rett syndrome are present. The milder form may include mental retardation, mild learning disablilities and/or autism. Mutations in the MECP2 gene have been found to cause Rett syndrome and “atypical” Rett syndrome in females. In males, MECP2 mutations are not as common and responsible for a broad spectrum of neurodevelopmental phenotypes, ranging from
severe neonatal encephalopathy to a variety of neuropsychiatric features or mild mental retardation.1,12 Rarely, males with a progressive neurodevelopmental syndrome, including mental retardation, spasticity, speech and social problems, have been found to have a duplication or triplication of the MECP2 gene.2,3 Inheritance pattern: X-linked dominant, most cases are due to de novo mutations. Rett syndrome is caused by mutation or deletion in the MECP2 gene located on chromosome Xq28. MECP2 encodes the methyl CpG binding protein 2 transcriptional repressor, which binds and thereby silences other genes that are controlled via methylation of CpG islands. Thus, the loss of MECP2 function impairs the normal control mechanisms for gene transcription. As duplication of the MECP2 locus in males is also associated with a progressive neurodevelopmental delay, it appears that the correct genedosage of MECP2 protein is critical for normal behavior. "
severe neonatal encephalopathy to a variety of neuropsychiatric features or mild mental retardation.1,12 Rarely, males with a progressive neurodevelopmental syndrome, including mental retardation, spasticity, speech and social problems, have been found to have a duplication or triplication of the MECP2 gene.2,3 Inheritance pattern: X-linked dominant, most cases are due to de novo mutations. Rett syndrome is caused by mutation or deletion in the MECP2 gene located on chromosome Xq28. MECP2 encodes the methyl CpG binding protein 2 transcriptional repressor, which binds and thereby silences other genes that are controlled via methylation of CpG islands. Thus, the loss of MECP2 function impairs the normal control mechanisms for gene transcription. As duplication of the MECP2 locus in males is also associated with a progressive neurodevelopmental delay, it appears that the correct genedosage of MECP2 protein is critical for normal behavior. "
