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