Genomics for Life Pty Ltd

Site

Genomics for Life Pty Ltd

Accreditation No.

19325

Site No.

22042

Date of Accreditation

07 Sep 2014

Address

Unit 1, 11 Parkview Street
Milton, QLD 4064
Australia

Contact

Ms Sandra Stein P: +61 (07) 30544377

Availability

Services available to external clients

Supervision

GX (General)

Scope of Accreditation

Genomics for Life Pty Ltd

ISO 15189 (2012)

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

Human Pathology

Medicare expiry date

03 Oct 2025

Last Activity Date

16 Jan 2023

Service Product Determinant
Anatomical pathology - Tissue pathology - Examination of biopsy material Formalin fixed tissue Review and reporting of biopsy material to identify or exclude morphological abnormalities
Anatomical pathology - Tissue pathology - Gene probes using paraffin in-situ hybridisation techniques (chromogenic/silver) Formalin-fixed paraffin-embedded (FFPE) tissues Detection of nucleic acid targets - Various
Anatomical pathology - Tissue pathology - Immunohistochemical investigation Formalin-fixed paraffin-embedded (FFPE) tissues Detection of antigenic targets - Various
Microbiology - Molecular biology - Detection, characterisation and/or quantitation of microbial nucleic acids (viruses) Nasopharyngeal swabs; Throat swabs Adenovirus; Human metapneumovirus; Influenza A virus; Influenza B virus; Parainfluenza virus; Respiratory syncytial virus (RSV)
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID)
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted panels for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - DNA extraction Amniotic fluid; Ascitic fluid; Blood; Body fluids; Bone marrow; Buccal swabs; Buffy coat; Cerebrospinal fluid (CSF); Chorionic villus tissue; Dried blood spots; Formalin-fixed paraffin-embedded (FFPE) tissues; Fresh tissue; Hair; Muscle; Plasma; Pleural fluid; Products of conception (POC); Saliva; Serum; Skin biopsy; Tissues; Urine Sample assessment and identification; Viable DNA; Viable DNA for sequencing; Viable DNA for sequencing and other molecular assays
Molecular genetics - DNA fragment size analysis Extracted DNA Aneuploidy for chromosomes X and Y; Copy number variation (CNV); Cystic fibrosis; DNA fragment size determination; Fragile X; Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Maternal cell contamination; Spinal muscular atrophy; Triple repeat analysis; Trisomy 13, trisomy 18, trisomy 21; UGT1A1 genotyping; Y chromosome AZF deletions; Y chromosome microdeletion
Molecular genetics - DNA sequencing Extracted DNA DNA sequence analysis; DNA sequencing reaction purification step; Incidental germline whole exome sequencing; Inherited (germline) whole exome sequencing; Sequenced DNA; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies; Somatic whole exome sequencing
Molecular genetics - Detection and characterisation of cell free RNA (cfRNA)/cell free DNA (cfDNA)/cell free TNA (cfTNA) in cancer screening and/or cancer genetic testing Extracted DNA; Extracted RNA Nucleic acid analysis for specific variants
Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) Extracted DNA; Extracted RNA Angelman syndrome; Cystic fibrosis; Estimation of risk; Halotype linkage analysis; Hereditary non-syndromic deafness; Maternal cell contamination; Prader-Willi syndrome; Spinal muscular atrophy; Uniparental disomy
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Somatic mutation detection
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted panels for non-inherited (somatic) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Somatic mutation detection
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Whole exome sequencing for non-inherited (somatic) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Somatic mutation detection
Molecular genetics - Heterozygous loci determinations Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted panels for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic abnormalities - Diagnostic testing Extracted DNA Mitochondrial DNA analysis for specific or unknown variants
Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic variants - Carrier testing Extracted DNA Mitochondrial DNA analysis for specific or known variants
Molecular genetics - Non-invasive prenatal (genetic) screening Maternal blood; Maternal plasma Aneuploidy for chromosomes X and Y; Chromosome copy number analysis; Jacobs syndrome (XYY); Klinefelter syndrome (XXY); Rare autosome aneuploidy and segmental genomic imbalances; Trisomy 13, trisomy 18, trisomy 21; Trisomy X; Turners syndrome (SCA:XO)
Molecular genetics - Pre-implantation genetic testing Extracted DNA Aneuploidy; Aneuploidy screening of amplified trophectoderm/blastomere DNA; Cardiac disorders; Chromosome copy number analysis; Karyomapping for known single gene disorders; Nucleic acid analysis for specific variants; PCR-Short tandem repeat (STR) linkage analysis; Translocation; Wilsons disease
Molecular genetics - Predictive genetic testing - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Predictive genetic testing - Targeted panels for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Predictive genetic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Predictive mitochondrial genetic testing Extracted DNA Mitochondrial DNA analysis for specific or known variants
Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - RNA extraction Amniotic fluid; Blood; Bone; Bone marrow; Buccal swabs; Buffy coat; Formalin-fixed paraffin-embedded (FFPE) tissues; Saliva; Tissues Sample assessment and identification; Viable RNA; Viable RNA for molecular diagnostics; Viable RNA for sequencing
Molecular genetics - RNA sequencing Extracted RNA Incidental germline whole exome sequencing; Inherited (germline) whole exome sequencing; RNA sequence analysis; RNA sequencing reaction purification step; Sequenced RNA; Sequenced RNA by Sanger sequencing; Sequenced RNA utilising massively parallel sequencing technologies; Somatic whole exome sequencing
Molecular genetics - Screening for an unknown mutation - Microarray analysis for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Screening for an unknown mutation - Targeted genes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Screening for an unknown mutation - Targeted panels for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Screening for an unknown mutation - Targeted panels for non-inherited (somatic) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Somatic mutation detection
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing for non-inherited (somatic) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Extracted DNA; Extracted RNA Inherited cancer syndromes; Inherited disorders; Mendelian disorders; Mitochondrial disorders
Molecular genetics/Cytogenetics - Bioinformatic analysis DNA sequences; FASTQ files; RNA sequences Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation

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