Mater Pathology offers a range of tests that screen for disease-related genetic abnormalities. Using state-of-the-art ‘massively parallel sequencing’ technology, we simultaneously screen a group of genes known to be clinically associated with a particular condition. This improves the chance of identifying a disease causing gene mutation while significantly reducing the overall cost and time required to perform single gene tests consecutively.

Identifying the causative gene mutation can provide a definitive diagnosis and may inform the best course of patient treatment or management. It can also allow for screening of family members for identification and management of disease risk, as well as facilitate reproductive options (only available through a clinical genetic service).  

Resources available for download:


The genes included for each condition have been selected on the basis of clinical significance by an expert team of genetic pathologists and scientists at Mater Pathology. Our pathologists provide comprehensive interpretation, reporting and advice to referring clinicians utilising the service. The test is performed under strict quality standards within our molecular genetics laboratory and has been accredited for compliance with the international standard for medical testing (ISO:15189), by the National Association of Testing Authorities (NATA).

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Maturity Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes (PND)
Familial Hypersulinism (FHI)
RASopathy Syndromes
Disorders of Sex Development (DSD)

Limitations of the test

This assay will only assess sequence variants in the coding regions of the genes in the appropriate subpanel, with >99% of targeted bases sequenced at >25X read depth. Copy number variations, large deletions or duplications, triplet repeat expansions, structural rearrangements and mosaic states cannot be assessed by this testing methodology. Deletion / duplication analysis using multiplex ligation-dependant probe amplification (MLPA) is routinely performed for four genes in the MODY panel (see table above).
 

Important Service Details

Request/ payment /consent form: Please download the current forms available at the top of this page or contact us on 07 3163 8500. All forms must be completed and accompany the sample being sent to the laboratory. There is currently no Medicare rebate for this test in Australia.

Sample required: 2ml EDTA -whole blood OR 2μg genomic DNA

Turnaround time: 8-10 weeks

Price: $1100 per panel

Shipping: Room temperature (please contact the laboratory on 07 3163 8500 for instructions on shipping samples from outside of Australia)

Address: Mater Pathology, Level 6, Mater Hospital Brisbane, Raymond Terrace, South Brisbane, QLD 4101, Australia


Contact

Laboratory
Mr Ivan McGown: 07 3163 6017 or ivan.mcgown@mater.org.au

Genetic Pathologists
Dr James Harraway: 07 3162 7679 or james.harraway@mater.org.au