National Association of Testing Authorities, Australia
Scope of Accreditation
Victorian Clinical Genetics Services Limited
Site
Victorian Clinical Genetics Services Limited
Accreditation No.
3171
Site No.
3164
Date of Accreditation
07 Jun 1991
Contact
Dr Meaghan Wall P: +61 (03) 99366377
Availability
Services available to external clients
Supervision
GX (General)
Scope of Accreditation
Clinical Genomics Laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Molecular genetics - DNA fragment size analysis | Amniotic fluid; Blood; Bone marrow; Buccal cells; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues | Copy number variation (CNV); Hereditary non-syndromic deafness |
| Molecular genetics - DNA sequencing | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified PCR product; Saliva; Tissue culture cells; Tissues; Urine | Sequenced DNA by Sanger sequencing |
| Sequenced DNA utilising massively parallel sequencing technologies; Whole genome sequencing (WGS) | ||
| Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) | Amniotic fluid; Blood; Bone marrow; Buccal cells; Chorionic villus; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; Urine | Hereditary non-syndromic deafness |
| Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; Urine | Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; UrineAdd purified DNA to masterlist | Inherited disorders; Mendelian disorders; Variants in the nuclear genome | |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; Urine | Congenital central hypoventilation syndrome (CCHS); ReNU syndrome |
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Hereditary non-syndromic deafness | ||
| Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic abnormalities - Diagnostic testing | Blood; Buccal swabs; Dried blood spots; Muscle; Saliva; Tissues; Urine | Mitochondrial DNA analysis for specific or unknown variants |
| Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic variants - Carrier testing | Blood; Buccal swabs; Dried blood spots; Muscle; Saliva; Tissues; Urine | Mitochondrial DNA analysis for specific or known variants |
| Molecular genetics - Predictive genetic testing - Targeted genes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; Urine | Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Dried blood spots; Extracted DNA; Hair; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissues; Urine | Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome | |
| Molecular genetics - Predictive mitochondrial genetic testing | Blood; Buccal swabs; Dried blood spots; Tissue culture cells; Tissues; Urine | Mitochondrial DNA analysis for specific or known variants |
| Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) | Amniotic fluid; Chorionic villus tissue; Cord blood; Cord tissue; Cultured amniotic fluid cells; Cultured chorionic villus cells; Products of conception (POC) | Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Inherited disorders; Mendelian disorders; Variants in the nuclear genome | ||
| Molecular genetics - Screening for an unknown mutation - Targeted genes | Extracted DNA; Formalin-fixed paraffin-embedded (FFPE) tissues; Tissues | Central nervous system tumours; Methylation profile |
| Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Cultured cell pellets; Extracted DNA; Hair; Muscle; Products of conception (POC); SalivaAdd urine to masterlist | Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics and/or cytogenetics - Bioinformatic analysis | Alignment files; DNA sequences; FASTQ files; VCF files | Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation |
| Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation |
Cytogenetics
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| 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; Other tissues - Malignant; Other tissues - Non-malignant | Pathogenic copy number changes |
| Cytogenetics - Karyotype detection of balanced and/or unbalanced chromosome abnormalities | Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Other tissues - Malignant; Other tissues - Non-malignant | Cytogenetic analysis and reporting |
| Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted genes | Blood; Bone marrow | Copy number variation (CNV) |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes | Blood; Saliva; Tissues | Fragile X syndrome (FRAXA) |
| Fragile X syndrome (FRAXA) | ||
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Dried blood spots; Saliva; Tissue culture cells; Tissues | Angelman syndrome; Prader-Willi syndrome |
| Molecular genetics - Screening for an unknown mutation - Microarray analysis for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Bone marrow; Chorionic villus; Products of conception (POC); Saliva | Copy number variation (CNV) |
| Molecular genetics and/or cytogenetics - Bioinformatic analysis | GTC files; Report files; TXT files | Primary analysis - Conversion of instrument file to TXT file; Secondary analysis - Alignment and copy number analysis; Tertiary analysis - Data annotation and interpretation |
DNA Laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Molecular genetics - DNA extraction | Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Dried blood spots; Fibroblast cell pellets; Formalin-fixed paraffin-embedded (FFPE) tissues; Fresh tissue; Frozen tissue; Muscle; OraCollect; Products of conception (POC); Saliva; Tissues; Urine | DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing |
| DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing |
Expanded Carrier Screening Laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes | Blood; Extracted DNA; Purified DNA; Saliva | Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics and/or cytogenetics - Bioinformatic analysis | Alignment files; DNA sequences; FASTQ files; VCF files | Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation |
Maternal Serum Screening laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Chemical pathology - Determination of hormones and hormone binding proteins (other than thyroid function tests) | Serum | Inhibin A (Inh-A) - Dimeric |
| Chemical pathology - Investigation of maternal markers to detect foetal abnormality | Serum | Placental growth factor (PGF, PLGF) |
| Oestriol - Unconjugated | ||
| Free β-human chorionic gonadotropin (free β-hCG); Pregnancy associated plasma protein A (PAPP-A); α-Fetoprotein (AFP) |
Mitochondrial laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Chemical pathology - Biochemical genetic services for the diagnosis of metabolic and enzymological disorders | Cardiac muscle biopsy; Liver; Muscle; Skin fibroblasts | Bicinchoninic acid protein; Citrate synthase; Respiratory chain enzymes |
Newborn screening & metabolic laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Chemical pathology - Biochemical genetic services - Amino acid quantitation | Cerebrospinal fluid (CSF); Dried blood spots; Plasma; Urine | Alanine; Alloisoleucine; Arginine; Asparagine; Aspartic acid; Cysteine; Glutamic acid; Glutamine; Glycine; Histidine; Isoleucine; Leucine; Lysine; Methionine; Phenylalanine; Proline; Serine; Threonine; Tryptophan; Tyrosine; Valine |
| Chemical pathology - Biochemical genetic services for the diagnosis of metabolic and enzymological disorders | Blood | Gal-1-p-uridyl transferase; Galactoscreen |
| Blood; Cerebrospinal fluid (CSF) | Amino acids | |
| Dried blood spots | Acylcarnitine profile; Amino acids; Steroid profile | |
| Plasma | Carnitine - Free; Carnitine - Total | |
| Transferrin isoforms | ||
| 3-Hydroxybutyric acid | ||
| 7-Dehydrocholesterol; Sterols | ||
| Free fatty acids - Total | ||
| Urine | Purines and pyrimidines | |
| Bile acid profile; Creatine and guanidinoacetate; Metabolic screen; δ-1-Piperideine-6-carboxylate dehydrogenase (P6C) | ||
| Mucopolysaccharides (MPS) | ||
| 7-Dehydrocholesterol; Organic acids; Orotic acid; Polyols; Sterols; Succinylacetone | ||
| Chemical pathology - Newborn screening services for the diagnosis of inborn errors of metabolism | Dried blood spots | Biotinidase |
| Galactose-1-phosphate uridyl transferase (GALT); Total galactose (TGAL) | ||
| Acylcarnitine profile; Amino acids; Steroid profile | ||
| 17α-Hydroxyprogesterone; Immunoreactive trypsinogen; Thyroid stimulating hormone (TSH) | ||
| Dried blood spots; Plasma | 11-Deoxycortisol; 17-Hydroxyprogesterone; 17α-Hydroxyprogesterone; Androstenedione; Cortisol; Cortisone; Progesterone; Testosterone | |
| Haematology - Newborn screening services for the screening of sickle cell disease, beta-thalassaemia, and other haemoglobinopathies | Dried blood spots | Haemoglobin A (HbA); Haemoglobin A2 (HbA2) + Haemaoglobin C (HbC) zone; Haemoglobin F (HbF); Haemoglobin Z (HbZ) zone |
| Haemoglobin A (HbA); Haemoglobin A2 (HbA2) + Haemaoglobin C (HbC) zone; Haemoglobin F (HbF); Haemoglobin Z (HbZ) zone | ||
| Molecular genetics - DNA extraction | Dried blood spots | DNA storage for future analyses; Viable DNA; Viable DNA for sequencing and other molecular assays |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes | Dried blood spots | Cystic fibrosis |
| Molecular genetics - Screening for an unknown mutation - Targeted genes | Dried blood spots; Extracted DNA | Severe combined immunodeficiency disease (SCID); Spinal muscular atrophy |
NIPT
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Molecular genetics - Non-invasive prenatal (genetic) screening | Maternal plasma | Aneuploidy for chromosomes X and Y; Rare autosome aneuploidy and segmental genomic imbalances; Trisomy 13, trisomy 18, trisomy 21 |
| Molecular genetics and/or cytogenetics - Bioinformatic analysis | Alignment files; DNA sequences; FASTQ files; VCF files | Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and copy number analysis; Tertiary analysis - Data interpretation |
| Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and copy number analysis; Tertiary analysis - Data interpretation |
Reproductive Genetic Carrier Screening Laboratory
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Molecular genetics - DNA fragment size analysis | Amniotic fluid; Blood; Chorionic villus tissue; Purified DNA; Tissues | Spinal muscular atrophy |
| Molecular genetics - DNA sequencing | Amniotic fluid; Blood; Chorionic villus tissue; Extracted DNA; Hair; Tissues | Sequenced DNA utilising massively parallel sequencing technologies |
| Amniotic fluid; Chorionic villus tissue; Extracted DNA; Hair; Tissues | Sequenced DNA by Sanger sequencing | |
| Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) | Amniotic fluid; Blood; Chorionic villus; Saliva | Cystic fibrosis; Spinal muscular atrophy |
| Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes | Blood; Saliva | Spinal muscular atrophy |
| Cystic fibrosis | ||
| Cystic fibrosis; Spinal muscular atrophy | ||
| Fragile X syndrome (FRAXA) | ||
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes | Blood; Dried blood spots; Saliva; Tissues | Cystic fibrosis; Spinal muscular atrophy |
| Cystic fibrosis | ||
| Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) | Amniotic fluid; Chorionic villus | Cystic fibrosis |
| Amniotic fluid; Chorionic villus tissue | Spinal muscular atrophy | |
| Cystic fibrosis; Spinal muscular atrophy | ||
| Molecular genetics - Screening for an unknown mutation - Targeted genes | Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Products of conception (POC); Purified DNA; Saliva; Tissues | Spinal muscular atrophy |
Tissue culture
ISO 15189 (2022)
Human Pathology
Medicare expiry date
06 Sep 2028
Last Activity Date
18 Mar 2024
| Service | Product | Determinant |
|---|---|---|
| Chemical pathology - Biochemical genetic services for the diagnosis of metabolic and enzymological disorders | Amniotic fluid; Amniotic fluid cells; Blood; Chorionic villus; Chorionic villus cells; Chorionic villus tissue; Lymphoblasts (PBMC); Plasma; Products of conception (POC); Skin; Skin fibroblastsLymphoblasts | Tissue culture and long term storage |
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.
3171
Site No.
3164
Print date
14 Mar 2026
END OF SCOPE