|0051618||Rett Syndrome (MECP2), Deletion and Duplication
|0051378||Rett Syndrome (MECP2), Full Gene Sequencing
Characteristics: Classic Rett syndrome is a progressive neurodevelopmental disorder characterized by normal development until 6-18 months of age followed by rapid developmental regression, deceleration of head growth, loss of speech and acquired motor skills, and seizures; purposeful use of the hands is replaced by repetitive stereotyped hand movements. MECP2-Related disorders include Rett-like syndrome, severe congenital encephalopathy, or mild to severe mental retardation.
Incidence: 1 in 10,000.
Inheritance: X-linked dominant; most cases are sporadic.
Cause: Methyl-CpG-Binding Protein 2 (MECP2) gene mutations.
Clinical Sensitivity: Up to 95 percent.
Methodology: bidirectional sequencing of the entire coding region and intron-exon boundaries; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large MECP2 deletions /duplications; oligonucleotide probes cover all MECP2 in the coding region.
Analytical Sensitivity: 99 percent for sequencing and 90 percent for MLPA.
Analytic Specificity: 99 percent for sequencing and 98 percent for MLPA.
Limitations: Breakpoints of large deletions/duplications cannot be determined; deep intronic mutations will not be detected; analytical sensitivity may be compromised by rare primer site mutations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS