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Reference Interval:
#ExistRefRangeTable> | Test Number
| Components
| Reference Interval
| | 0051618 | Rett Syndrome (MECP2), Deletion and Duplication
| By report
| | 0051378 | Rett Syndrome (MECP2), Full Gene Sequencing
| By report
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| Interpretive Data: |
#ExistInterpData>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 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
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| CPT Code(s): |
81302, 81304
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