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