Endocrine and Multisystem Disorder Panels

Gene: Variable, based on clinical panel selected at time of request.

 Maturity Onset Diabetes of the Young (MODY)
 Permanent Neonatal Diabetes
 Familial Hyperinsulinism
 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

Contact information

For further inforamtion on the molecular genetics tests above please contact:


For enquiries call 07 3163 8996 or email molecular.genetics@mater.org.au

Genetic pathologist

Dr James Harraway, call 07 3162 7679

Specimen delivery

Please send any molecular genetic test specimens to:

Mater Pathology
Level 6, Mater Hospital Brisbane
Raymond Terrace
South Brisbane Q 4101