National Association of Testing Authorities, Australia
Scope of Accreditation
Virtus Health Specialist Diagnostics
Site
VHSD Revesby Genetics
Accreditation No.
19906
Site No.
25444
Date of Accreditation
02 Mar 2023
Contact
Ms Marnie Whittorn P: +61 (02) 95702211
Availability
Services available to external clients
Supervision
GY (General)
Scope of Accreditation
VHSD Revesby Genetics
ISO 15189 (2022)
- This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.
Human Pathology
Service | Product | Determinant |
---|---|---|
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Fragile XE mental retardation; Survival of motor neuron 1 (SMN1); Y chromosome AZF deletions |
Extracted DNAAmplified gDNA from embryo biopsy - received from PGT Melbourne | Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders | |
Molecular genetics - DNA extraction | Blood; Saliva | Viable DNA for sequencing |
Molecular genetics - DNA fragment size analysis | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X; Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Survival of motor neuron 1 (SMN1); Y chromosome AZF deletions |
Molecular genetics - DNA sequencing | Blood; Saliva | Sequenced DNA by Sanger sequencing |
Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) | Extracted DNA | Estimation of risk |
Molecular genetics - Heterozygous loci determinations | Blood; Saliva | Inherited disorders |
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Fragile XE mental retardation; Haemoglobin subunit alpha 1 (HBA1); Haemoglobin subunit alpha 2 (HBA2); Haemoglobin subunit beta (HBB); Inherited disorders; Survival of motor neuron 1 (SMN1) |
Extracted DNAAmplified gDNA from embryo biopsy - received from PGT Melbourne | Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders | |
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Fragile X syndrome (FRAXA); Haemoglobin subunit alpha 1 (HBA1); Haemoglobin subunit alpha 2 (HBA2); Haemoglobin subunit beta (HBB); Inherited disorders; Survival of motor neuron 1 (SMN1) |
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes | Blood; Saliva | Cystic fibrosis; Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Inherited disorders; Y chromosome AZF deletions |
Extracted DNAAmplified gDNA from embryo biopsy - received from PGT Melbourne | Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders | |
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Saliva | Cystic fibrosis; Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Inherited disorders; Y chromosome AZF deletions |
Molecular genetics - Screening for an unknown mutation - Targeted genes | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Fragile X syndrome (FRAXA); Haemoglobin subunit alpha 1 (HBA1); Haemoglobin subunit alpha 2 (HBA2); Haemoglobin subunit beta (HBB); Inherited disorders; Survival of motor neuron 1 (SMN1) |
Extracted DNAAmplified gDNA from embryo biopsy - received from PGT Melbourne | Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders | |
Molecular genetics - Screening for an unknown mutation - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Saliva | Cystic fibrosis transmembrane conductance regulator (CFTR); Fragile X messenger ribonucleoprotein 1 (FMR1) related disorders; Haemoglobin subunit alpha 1 (HBA1); Haemoglobin subunit alpha 2 (HBA2); Haemoglobin subunit beta (HBB); Inherited disorders; Survival of motor neuron 1 (SMN1) |
Molecular genetics/Cytogenetics - Bioinformatic analysis | DNA sequences; FASTQ files | Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation |
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.
Grey text appearing in a SoA is additional freetext providing further refinement or information on the data in the preceding line entry.
Accreditation No.
19906
Site No.
25444
Print date
05 Feb 2025
END OF SCOPE