Reference Interval:
By report
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| Interpretive Data: |
Background Information
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 15%.
Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large MECP2 deletions /duplications; oligonucleotide probes cover the MECP2 coding region.
Analytical Sensitivity: 90%
Analytical Specificity: 98%
Limitations: Breakpoints of large deletions/duplications cannot be determined; deep intronic mutations, single base pair substitutions and small deletions/duplications 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83896 Nucleic acid probes; 83914 Extension; 83898 Amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report.
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Cross References: |
MECP2 (Rett Syndrome (MECP2), Deletion and Duplication)
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