Mater Pathology

For DoctorsGene Panel Tests

Molecular Genetics - Gene Panel Tests

 

Cardiac Gene Panels 

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

Disease/s: Cardiomyopathy (hypertrophic/dilated/arrhythmogenic/non-compaction), Arrhythmia (QT Abnormalities, Brugada syndrome, familial atrial fibrillation, catecholaminergic polymorphic ventricular tachycardia), dyslipidaemia, aortopathy.

Region/Mutation analysed: All coding regions of genes in selected panel, with >99% of targeted bases sequenced at >25x read depth.

Method: DNA Sequencing.

Specimen: 9ml blood (EDTA) or 5µg genomic DNA.

Shipping: Room temperature.

Turn-around: 8 - 10 weeks.

Price: $1,850-$1,950 depending on panel selected.

Other information: This test must be requested using a specific test request/consent form. For further information on the cardiac gene panels, including brochures and forms, please visit pathology.mater.org.au/cardiac . Alternatively, contact the laboratory on +61 7 3163 8500.

Endocrine and Multisystem Disorder Panels 

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 form. For further information on the genes included in these panels, including brochures and forms, please visit pathology.mater.org.au/endocrine. Alternatively, contact the laboratory on +61 7 3163 8500

 

Contact information

For further information on the molecular genetic tests above please contact:

Doctor Liaison

Eammon Mottram ph: +61 466 777 828 email: eammon.mottram@mater.org.au

Laboratory

Mr Ivan McGown ph: +61 7 3163 6017 email: ivan.mcgown@mater.org.au   

Genetic Pathologist

Dr James Harraway ph: +61 7 3162 7679 email: james.harraway@mater.org.au

Specimen delivery

Please send any molecular genetic test specimens to:

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