- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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 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: 1in 10,000
Inheritance: X-linked dominant; most cases are sporadic.
Cause: Methyl-CpG-Binding Protein 2 (MECP2) gene mutations.
Clinical Sensitivity: 80%
Methodology: Bidirectional sequencing of the MECP2 coding regions (exons 1-4) and intron-exon boundaries.
Analytical Sensitivity: 99%
Analytical Specificity: 99%
Limitations: Deep intronic mutations and large deletions/duplications will not be identified. Diagnostic errors can occur due to rare sequence variations.
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
|Component Test Code*||Component Chart Name|
|0051379||Rett Syndrome, Full Gene Sequencing|
|2001375||RETT FGS Specimen|
- MECP2 sequencing assay