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Mater Pathology

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... Show more »

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.

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Mater Pathology has not listed any services.

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Customized Gene Panels
Price on request

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... Show more »

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.

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Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Agilent Cartagenia
Cardiac Gene Panel
Starting at $1,850.00 per sample

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... Show more »

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

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Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Illumina Trusight Cardio
Agilent Cartagenia
Microarray Data Analysis
Price on request

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

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

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Human
Affymetrix CytoScan array
RASopathy Syndromes Gene Panel
Starting at $1,100.00 per sample

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... Show more »

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.

« Show less
Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
Familial Hyperinsulinism Gene Panel
Starting at $1,100.00 per sample

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... Show more »

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.

« Show less
Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Agilent Cartagenia
Permanent Neonatal Diabetes Gene Panel
Starting at $1,100.00 per sample

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... Show more »

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.

« Show less
Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Agilent Cartagenia
Sex Development Disorders Gene Panel
Starting at $1,100.00 per sample

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,... Show more »

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.

« Show less
Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Agilent Cartagenia
Maturity Onset Diabetes of the Young (MODY) Gene Panel
Starting at $1,100.00 per sample

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... Show more »

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.

« Show less
Illumina MiSeq sequencing system
Illumina NextSeq 500 sequencing system
Human
CLC Genomics Workbench
Agilent Cartagenia
Clinical Research
Price on request
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Clinical Laboratory Services
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Clinical Molecular Diagnostics
Price on request
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Gene Panel Testing
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Biology
Price on request
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Biochemistry & Molecular Biology
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Nucleic Acid Services
Price on request
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Nucleic Acid Analysis
Price on request
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Nucleic Acid Data Analysis
Price on request
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DNA Services
Price on request
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DNA Sequencing
Price on request
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Next Generation Sequencing (NGS)
Price on request
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Targeted Gene Sequencing
Price on request
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