Rett Syndrome (MECP2), Full Gene Sequencing
0051378
 
Ordering Recommendation
Consultation with genetic counselor is recommended to plan the optimal MECP2 genetic testing sequence.
Mnemonic
RETT FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
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 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
Note
CPT Code(s)
81302
Components
Component Test Code*Component Chart Name
0051379Rett Syndrome, Full Gene Sequencing
2001375RETT FGS Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References