We are an iconic provider of hospital-based healthcare, striving to deliver an exceptional standard of care
We comprise several hospitals, health centres, a nationally accredited education provider and a world-class research institute
We are a nationally accredited, hospital-based Registered Training Organisation - the only one of its kind in Queensland
We are part of a collaborative research institute with The University of Queensland and founding partner of the Translational Research Institute
Gene: Variable, based on clinical panel selected at time of request.
Maturity Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes
RASopathy Syndromes (e.g. Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous syndrome, Costello syndrome, Neurofibromatosis 1, Legius syndrome)
Disorders of Sex Development
Region/Mutation analysed: All coding regions of genes in selected panel, with >99% of targeted bases sequenced at >25x read depth.
Method: DNA Sequencing. (Note: MLPA testing to detect large deletions/duplications is included for four genes in the MODY panel: HNF4A, GCK, HNF1A and HNF1B)
Specimen: 2ml blood (EDTA) or 2µg genomic DNA.
Shipping: Room temperature.
Turn-around: 8 - 10 weeks.
Price: $1,100 per panel.
Other information: This test must be requested using a specific test request/consent forms. For further information on the genes included in these panels, including brochures and forms click here. Alternatively, contact the laboratory on +61 7 3163 8500
For further inforamtion on the molecular genetics tests above please contact:
For enquiries call 07 3163 8996 or email firstname.lastname@example.org
Dr James Harraway, call 07 3162 7679
Please send any molecular genetic test specimens to:
Level 6, Mater Hospital Brisbane
South Brisbane Q 4101