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Test Identifier Information

Registration CodeMUTA 05

The coding region of PTEN (nine exons) and its promoter are amplified using PCR and analysed by bidirectional fluorescent DNA sequencing.

Diagnostic Use / Indications

Cowden disease (CD) also known as multiple hamartoma syndrome is characterised by a range of clinical manifestations including multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid. Verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa and multiple facial trichilemmomas are also common. Further manifestations include macroencephaly and hamartomatous polyps of the colon and other intestines. However the most serious problem is the increased risk of malignancies of the bowel, breast, skin, brain and thyroid. Other diseases iso-allelic to Cowden disease i.e. caused by mutations in the PTEN gene, include Lhermitte-Duclos disease, Bannayan Zonana syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Mutation analysis of the entire coding region of PTEN and its promoter may detect 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS) and approximately 50% of a Proteus-like syndrome (PSL).

Constituent TestsGenomic DNA Extraction ;
External Price$609.00(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/microliter.
  3. 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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