Virtus Health Specialist Diagnostics

Site

VHSD Revesby Genetics

Accreditation No.

19906

Site No.

25444

Date of Accreditation

02 Mar 2023

Address

Suites 103-104, Level 1, 20-30 Blamey St
Revesby, NSW 2212
Australia

virtusdiagnostics.com.au

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

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