Mater Pathology

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.