NSW Health Pathology

Site

NSW Health Pathology JHH Molecular Medicine

Accreditation No.

3561

Site No.

25007

Date of Accreditation

11 Sep 2020

Address

Level 2 Pathology Building, John Hunter Hospital, 2 Lookout Road
New Lambton Heights, NSW 2305
Australia

pathology.health.nsw.gov.au

Contact

Ms Kim Bevan P: +61 (02) 49214431

Availability

Services available to external clients

Supervision

B (Branch)

Scope of Accreditation

Print scopes
NSW Health Pathology JHH Molecular Medicine

ISO 15189 (2022)

  • This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.

Human Pathology

Service Product Determinant
Cytogenetics - Detection of defined, balanced and/or unbalanced chromosomal abnormalities by in-situ hybridisation techniques Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Tissues Chromosomal rearrangement; Constitutional genetic abnormalities; Cytogenetic analysis and reporting; Pathogenic copy number changes; Variations of unknown significance
Cytogenetics - Karyotype detection of balanced and/or unbalanced chromosome abnormalities Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Tissues Acquired genetic abnormalities; Constitutional genetic abnormalities; Haematological abnormalities; Pathogenic copy number changes
Cytogenetics - Molecular karyotype (SNP microarray) detection of unbalanced chromosome abnormalities Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue Absence of heterozygosity; Aneuploidy detection for chromosomes; Chromosomal rearrangement; Cytogenetic analysis and reporting; Pathogenic copy number changes
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Blood; Bone marrow; Formalin-fixed paraffin-embedded (FFPE) tissues; Tissues Blood borne tumours; Solid tumours
Blood; Tissues Birt-Hogg-Dubé syndrome; Cowden syndrome (multiple hamartoma syndrome); Inherited cancer syndromes; Juvenile polyposis; Li-Fraumeni syndrome; Peutz-Jeghers syndrome; Von Hippel Lindau disease
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted panels for inherited (germline) DNA/RNA changes Blood Inherited cancer syndromes
Breast cancer
Molecular genetics - DNA extraction Amniotic fluid; Blood; Bone marrow; Buccal swabs; Buffy coat; Chorionic villus tissue; Formalin-fixed paraffin-embedded (FFPE) tissues; Products of conception (POC); Saliva; Tissues DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing
Formalin-fixed paraffin-embedded (FFPE) tissues DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing
Molecular genetics - DNA sequencing Blood; Buccal swabs; Formalin-fixed paraffin-embedded (FFPE) tissues; Oral fluid DNA sequence analysis; DNA sequencing reaction purification step; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted panels for non-inherited (somatic) DNA/RNA changes Blood; Bone marrow; Cytology smears; Formalin-fixed paraffin-embedded (FFPE) tissues Leukaemia; Lymphoproliferative disorders; Myelodysplastic syndromes; Myeloproliferative neoplasms
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted panels for non-inherited (somatic) DNA/RNA changesData analysis and reporting only Formalin-fixed paraffin-embedded (FFPE) tissues Microsatellite instability analysis; Multi-nucleotide variants (MNV); Single nucleotide variants (SNVs); Solid tumours; Tumour mutation burden (TMB)
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Blood Factor V Leiden; Prothrombin variant
Haemochromatosis
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes Blood Inherited cancer syndromes
Molecular genetics - Predictive genetic testing - Targeted genes Blood Nucleic acid analysis for specific variants
Molecular genetics - Predictive genetic testing - Targeted panels for inherited (germline) DNA/RNA changes Blood Inherited cancer syndromes
Molecular genetics - RNA extraction Amniotic fluid; Blood; Bone; Buccal swabs; Buffy coat; Formalin-fixed paraffin-embedded (FFPE) tissues; Saliva; Tissues Purified PCR product; RNA storage for future analyses; Viable RNA; Viable RNA for sequencing
Formalin-fixed paraffin-embedded (FFPE) tissues Purified PCR product; RNA storage for future analyses; Viable RNA; Viable RNA for sequencing
Molecular genetics - RNA sequencing Extracted RNA Sequenced RNA by Sanger sequencing
Molecular genetics - Screening for an unknown mutation - Targeted panels for inherited (germline) DNA/RNA changes Blood Inherited cancer syndromes
Molecular genetics - Screening for an unknown mutation - Targeted panels for non-inherited (somatic) DNA/RNA changes Blood; Bone marrow; Cytology smears; Formalin-fixed paraffin-embedded (FFPE) tissues Leukaemia; Lymphoproliferative disorders; Myelodysplastic syndromes; Myeloproliferative neoplasms
Molecular genetics/Cytogenetics - Bioinformatic analysis DNA sequences Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation
Hunter Medical Research Institute

ISO 15189 (2022)

Human Pathology

Service Product Determinant
Molecular genetics - DNA extraction Extracted DNA Quantification of DNA
Molecular genetics - DNA sequencing Extracted DNA DNA sequence analysis; DNA sequencing reaction purification step; Sequenced DNA utilising massively parallel sequencing technologies
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted panels for non-inherited (somatic) DNA/RNA changesExcludes data analysis and reporting Formalin-fixed paraffin-embedded (FFPE) tissues Microsatellite instability analysis; Multi-nucleotide variants (MNV); Single nucleotide variants (SNVs); Solid tumours; Tumour mutation burden (TMB)
Molecular genetics - RNA extraction Extracted RNA Quantification of RNA
Molecular genetics - RNA sequencing Extracted RNA RNA sequence analysis; RNA sequencing reaction purification step; Sequenced RNA utilising massively parallel sequencing technologies

The only data displayed is that deemed relevant and necessary for the clear description of the activities and services covered by the scope of accreditation.

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