Mater Pathology
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South Brisbane, Queensland, AU
With over 90 years experience, Mater Pathology is Queensland’s leading provider in genetic diagnostic services.
Mater Pathology is an ISO15189 accredited laboratory, providing services to the healthcare, research and biotech industries. Our Genomics Laboratory, headed by an expert team of MD PhD molecular pathologists, delivers comprehensive clinical interpretation, reporting and advice to clinicians and researchers seeking WGS, WES, targeted gene panel and microarray testing.
Note: Due to our current insurance policy restrictions, we can only accept samples from US and Canada for genetic testing on a research basis (not for diagnostic purposes) for the time being.
Mater Pathology's quality system complies with international standards AS ISO 15189:2013 and addresses the standards acceptable for good laboratory practice in Australia as set out in the National Pathology Accreditation Advisory Council document—“Requirements for Medical Pathology Services 2013”. In addition, the quality system complies with the Australian Therapeutic Goods Administration Australian Code of Good Manufacturing Practice for human blood and blood components, human tissues and human cellular therapy products 2013. Mater Pathology is a TGA licensed facility for testing services for donor testing services for the Queensland Cord Bank at Mater.
Range of endocrinology, multi-system and cardiac gene panels performed using next generation sequencing, analysed, interpreted and reported on by a team of scientists and MD genetic pathologists.
Please see the individual entry for the panel of interest on our 'Mater Pathology' store front or the attached brochures in 'Resources' for more information.
Maturity Onset Diabetes of the Young (MODY) AUD$1,100
HNF4A (MODY 1), GCK (MODY 2), HNF1A (MODY 3), PDX1 (MODY 4), HNF1B (MODY 5), NEUROD1 (MODY 6), PAX4 (MODY 9), INS (MODY 10), ABCC8 (MODY12), KCNJ11 (MODY13)
Permanent Neonatal Diabetes AUD$1,100
ABCC8, EIF2AK3, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, NEUROD1, PDX1
Familial Hyperinsulinism (FHI) AUD$1,100
ABCC8, GCK, GLUD1, HADH, HNF4A, KCNJ11, SLC16A1, UCP2
Disorders of Sex Development (DSD)
46,XY DSD AUD$1,100
Sex Determination: CBX2, DHH, DMRT1, NR5A1 (SF1), SOX9, WT1
Sex Differentiation: AMH, AMHR2, AR, ARX, CYP11A1, CYP17A1, DHCR7, HSD17B3, HSD3B2, LHCGR, MAMLD1, POR, SRD5A2, STAR, TSPYL1
46,XX DSD AUD$1,100
Sex Determination: RSPO1, SOX9, WNT4
Sex Differentiation: CYP11B1, CYP19A1, HSD11B1, LHCGR, NR3C1, POR
RASopathy Syndromes AUD$1,100
BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1
SPRED1
Cardiac Disorders - from AUD $1850
Please see Cardiac Panel entry and attached brochure in 'Resources' for details including gene lists and prices.
Range of cardiac panels performed using next generation sequencing and analysed, interpreted and reported on by a team of scientists and MD genetic pathologists. Please see our brochure under 'Resources' for detailed information of the tests and genes covered.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 5ug genomic DNA or 9ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
Hypertrophic Cardiomyopathy - AU$1850
Dilated Cardiomyopathy - AU$1850
Arrhythmogenic Cardiomyopathy - AU$1850
Non-compaction Cardiomyopathy - AU$1850
Comprehensive Cardiomyopathy (all panels above) - AU$1950
QT Abnormalities - AU$1850
Brugada Syndrome - AU$1850
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - AU$1850
Familial Atrial Fibrillation - AU$1850
Sudden Death Panel (all Cardiomyopathy and Arrhythmia panels above) can be requested for appropriate cases
Dyslipidaemia - AU$1850
Aortopathy - AU$1850
Molecular Karyotyping on Products of Conception Samples
Paediatric Microarrays for Neurodevelopmental Genetic Testing
Please see the attached brochures in 'Resources' on the 'Mater Pathology' page for further details about the tests
Turn around time - 4 weeks from receipt of sample
Technology - Affymetrix microarrays
Deliverables - Diagnostic report
Customized gene panel using next generation sequencing with interpretation, advice and reporting from a genetic pathologist.
Genes
BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1
SPRED1
Please see attached brochure in 'Resources' for further information on this test.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 2ug genomic DNA or 2ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
Customized gene panel using next generation sequencing with interpretation, advice and reporting from a genetic pathologist
Genes - ABCC8, GCK, GLUD1, HADH, HNF4A, KCNJ11, SLC16A1, UCP2
Please see attached brochure in 'Resources' for further information on this test.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 2ug genomic DNA or 2ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
Customized gene panel using next generation sequencing with interpretation, advice and reporting from a genetic pathologist
Genes - ABCC8, EIF2AK3, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, NEUROD1, PDX1
Please see attached brochure in 'Resources' for further information on this test.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 2ug genomic DNA or 2ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
Customized gene panel using next generation sequencing with interpretation, advice and reporting from a genetic pathologist
46,XY DSD AUD $1,100
Sex Determination: CBX2, DHH, DMRT1, NR5A1 (SF1), SOX9, WT1
Sex Differentiation: AMH, AMHR2, AR, ARX, CYP11A1, CYP17A1, DHCR7, HSD17B3, HSD3B2, LHCGR, MAMLD1, POR, SRD5A2, STAR, TSPYL1
46,XX DSD AUD $1,100
Sex Determination: RSPO1, SOX9, WNT4
Sex Differentiation: CYP11B1, CYP19A1, HSD11B1, LHCGR, NR3C1, POR
Please see attached brochure in 'Resources' for further information on this test.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 2ug genomic DNA or 2ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
Customized gene panel using next generation sequencing with interpretation, advice and reporting from a genetic pathologist
Genes - HNF4A (MODY 1), GCK (MODY 2), HNF1A (MODY 3), PDX1 (MODY 4), HNF1B (MODY 5), NEUROD1 (MODY 6), PAX4 (MODY 9), INS (MODY 10), ABCC8 (MODY12), KCNJ11 (MODY13)
Please see attached brochure in 'Resources' for further information on this test.
Turn around time - 8-10 weeks from receipt of sample and appropriate forms.
Sample requirements - 2ug genomic DNA or 2ml EDTA whole blood (this option only recommended for shipments within Australia)
Deliverables - comprehensive diagnostic report of findings, following the format recommended by ACMG guidlines.
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