Acceptable initial test for clinical diagnosis of Rett syndrome or MECP2-related disorder. Consultation with a genetic counselor is recommended to plan the optimal MECP2 genetic testing sequence. ARUP's genetic counselors are available at 800-242-2787 x2141
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051379||Rett Syndrome, Full Gene Sequencing|
|2001375||RETT FGS Specimen|
- MECP2 sequencing assay