Rett Syndrome: MECP2 Sequencing

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

MECP2

Turnaround Time

4 weeks

Test Code

7312

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Test 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.

Non-Funded Test Cost

$806.72 (Exclusive of GST)

Billing Code

4586

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.

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.
For deletion/duplication analysis of this gene refer to MLPA Testing

Contact Information

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