ARUP's Laboratory Test Directory

0051614: Rett Syndrome (MECP2), Full Gene Analysis

[ image for: Patient History for Rett Syndrome]
Patient History for Rett Syndrome
  

Test Mnemonic: RETT FGA
Methodology: Full Gene Sequencing/Multiplex Ligation Probe Amplification

Performed: Varies

Reported: Within 21 days

Specimen Required:  
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

Reference Interval:
 
Test Number Components Reference Interval
0051618Rett Syndrome (MECP2), Deletion and Duplication By report.
0051378Rett Syndrome (MECP2), Full Gene Sequencing 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 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 95%.
Methodology: bidirectional sequencing of the entire coding region and intron-exon boundaries; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large MECP2 deletions /duplications; oligonucleotide probes cover all MECP2 in the coding region.
Analytical Sensitivity: 99% for sequencing and 90% for MLPA.
Analytic Specificity: 99% for sequencing and 98% for MLPA. 
Limitations: Breakpoints of large deletions/duplications cannot be determined; deep intronic mutations 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.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.



CPT Code(s):
Rett sequencing: 83891 Isolation; 83898 x7 Amplification; 83904 x6 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. RETT MLPA: 83896 Nucleic acid probe; 83914 Extension; 83898 Amplification; 83909 Capillary electrophoresis.

 

 

 
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