ARUP's Laboratory Test Directory

0051378: Rett Syndrome (MECP2), Full Gene Sequencing

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

Test Mnemonic: RETT FGS
Methodology: Polymerase Chain Reaction/Sequencing

Performed: Varies

Reported: Within 14 days

Specimen Required:  
Collect: One 5 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A).

Transport: 5 mL whole blood at 2-8°C.  (Min: 1 mL)

Pediatric Collection/Transport: 1 mL whole blood at 2-8°C.

Remarks: Do not freeze.

Unacceptable Conditions: Hemolyzed specimens.

Stability: Ambient: 24 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 entire MECP2 coding region and intron-exon boundaries.
Analytical Sensitivity: 99%
Analytical Specificity: 99%
Limitations: Deep intronic mutations and large deletions/duplications will not be identified; 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):
83891 Isolation; 83898 x7 Amplification; 83904 x6 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report.