| Test code: | 148 |
| Type of disorder: | Neurodevelopmental Disorders |
| Disease(s) tested for: | Rett Syndrome |
| Genes Included: |
MECP2, |
| Clinical Significance: | Detects deletions in the MECP2 gene. Note: Also detects MECP2 duplications in males.
Typical Presentation: Normal psychomotor development during the first 6-18 months followed by a period of rapid regression. The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements.
Indications for testing: Female with classic Rett Syndrome or ASD |
| Methodology: |
Multiplex Ligation-dependent Probe Amplification (MLPA)
|
| Reference Range: | No deletions or duplications detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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