ARUP's Laboratory Test Directory

Rett Syndrome (MECP2), Full Gene Analysis : 0051614
[ image for: Patient History for Rett Syndrome (MECP2) or CDKL5-Related Disorders (CDKL5) Testing]
Patient History for Rett Syndrome (MECP2) or CDKL5-Related Disorders (CDKL5) Testing
  


Mnemonic: RETT FGA

Methodology: Full Gene Sequencing/Multiplex Ligation Probe Amplification
Performed: Varies
Reported: Within 21 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; 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.

Refer to Statement C under Testing Information at http://www.aruplab.com.
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.
Cross References: MECP2 (Rett Syndrome (MECP2), Full Gene Analysis)
 
 

 

 

 
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