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Test Identifier Information

 
Registration CodeMUTA 25
Method

All four coding exons and all of intron 3 of the MeCP2 gene are amplified using PCR and are analysed by bidirectional fluorescent DNA sequencing. In some cases deletion analysis is performed by MLPA or microarray analysis.

Diagnostic Use / Indications

Rett syndrome is caused by mutations to the MeCP2 gene expression, a DNA methylation binding protein thought to be involved in regulation of gene expression. The identification of MeCP2 mutations is a valuable tool in confirming the diagnosis of Rett syndrome, and enables clinicians to distinguish it from other neurological diseases.

Constituent TestsGenomic DNA Extraction ;
External Price$873.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. For deletion/duplication analysis of this gene refer to MLPA Testing
  4. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7312

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