ARUP's Laboratory Test Directory
| 0051618: Rett Syndrome (MECP2), Deletion and Duplication |
![[ image for: Patient History for Rett Syndrome]](icon_30.jpg){kind=icon} | Patient History for Rett Syndrome |
| Test Mnemonic: RETTDELDUP | |
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Methodology: Multiplex Ligation Probe Amplification
Performed: Mon, Sat Reported: 7-14 days |
| Specimen Required: | |
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Collect: 3 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B)
Transport: 3 mL whole blood at 2-8°C. (Min 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen Unacceptable |
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| Reference Interval: |
| By report. |
| Interpretive Data: | |
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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. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83891 Isolation; 83896 Nucleic acid probes; 83914 Extension; 83898 Amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report. |