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; Buccal cells; Chorionic villus tissue; Cultured cell pellets; Oral fluid; Purified DNA; Smears; Tissues Cultured cell pellets | Copy number variation (CNV) |
| Molecular genetics - DNA sequencing | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus tissue; Cultured cell pellets; Dried blood spots; Extracted DNA; Muscle; Oral fluid; Products of conception (POC); Tissues; Urine | Sequenced DNA; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies |
| Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) | Amniotic fluid; Blood; Chorionic villus; Cultured cell pellets; Extracted DNA; Mouth swabs; Saliva; Tissues | Friedreich's ataxia (FRDA, FA); 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; Muscle; Oral fluid; Products of conception (POC); Saliva; Tissues; UrinePurified DNA | Duchenne-Becker muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; 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; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; Tissues; Urine | Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Familial motor neurone disease - Amyotrophic lateral sclerosis (ALS); Friedreich's ataxia (FRDA, FA); Frontotemporal dementia; Hereditary non-syndromic deafness; Huntington's disease; Myotonic dystrophy; Spinocerebellar ataxia |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Dried blood spots; Extracted DNA; Saliva; Tissue culture cells; Tissues | Angelman syndrome; Azospermia; Disorders of sexual development; Emery-Dreifuss muscular dystrophy; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Laminopathies; Malignant hyperthermia; Mendelian disorders; Neurological disorders; Stickler syndrome |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Muscle; Products of conception (POC); Purified DNA; Saliva; Tissue culture cells; TissuesBone marrow; | Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Saliva; Skin fibroblasts; Tissues Bone marrow; | Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic abnormalities - Diagnostic testing | Blood; Buccal swabs; Muscle; Saliva; Tissues; UrineBuccal swabs | Mitochondrial DNA analysis for specific or unknown variants |
| Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic variants - Carrier testing | Blood; Buccal swabs; 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; Muscle; Products of conception (POC); Purified DNA; Saliva; TissuesCultured cell pellets; Urine | Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Familial adenomatous polyposis; Familial motor neurone disease - Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia; Huntington's disease; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics - Predictive genetic testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Cultured cell pellets - Dried; Extracted DNA; Muscle; Products of conception (POC); TissuesChorionic villus tissue; Dried cultured cell pellets; Bone marrow | Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics - Predictive mitochondrial genetic testing | Blood; 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; Chorionic villus tissue; Cord blood; Cord tissue; Cultured amniotic fluid cells; Cultured chorionic villus cellsExtracted DNA; | Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Friedreich's ataxia (FRDA, FA); Frontotemporal dementia; Hereditary non-syndromic deafness; Huntington's disease; Inherited disorders; Myotonic dystrophy; Spinocerebellar ataxia Amytrophic lateral sclerosis |
| Molecular genetics - Screening for an unknown mutation - Targeted genes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Products of conception (POC); Purified DNA; Saliva; Tissues; Urinary sediment; Urine | Cystic fibrosis; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Disorders of sexual development; Duchenne-Becker muscular dystrophy; Ectopia lentis et pupillae; Epiphyseal dysplasia; Episodic ataxia type 2 (EA2); Friedreich's ataxia (FRDA, FA); Hereditary diffuse gastric cancer; Hereditary haemorrhagic telangiectasia; Hereditary non-syndromic deafness; Huntington's disease; Myotonic dystrophy; Neurological disorders; Niemann-Pick disease type C; Skeletal dysplasia; Spinocerebellar ataxia; Stickler syndrome; Vascular syndromesc90rf72 |
| Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes | Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Cultured cell pellets; Extracted DNA; Muscle; Products of conception (POC); Saliva | Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome |
| Molecular genetics - Screening for an unknown mutation - Whole genome sequencing studies for inherited (germline) DNA/RNA changes | Extracted DNA | Methylation profile |
| Molecular genetics/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 |
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 - Molecular karyotype (SNP microarray) detection of unbalanced chromosome abnormalities | Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Other tissues - Malignant; Other tissues - Non-malignant | Chromosomal rearrangement |
| 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) |
| 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 |
| Angelman syndrome; Azospermia; Disorders of sexual development; Emery-Dreifuss muscular dystrophy; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Laminopathies; Malignant hyperthermia; Mendelian disorders; Neurological disorders; Stickler 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/Cytogenetics - Bioinformatic analysis | TXT files; VCF files | Primary analysis - Conversion of instrument file to TXT file; Secondary analysis - Alignment and variant calling; 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); Tissues; Urine | 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; Saliva | Nucleic acid analysis for specific variantsMicro RNA (miRNA) - 1281 single nucleotide varations |
| Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genesInterpretation and Reporting only | Blood; Saliva | Nucleic acid analysis for specific variantsMicro RNA (miRNA) - 1281 single nucleotide variations |
| Molecular genetics/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 | |
| 3-Hydroxybutyric acid | ||
| Transferrin isoforms | ||
| Free fatty acids - Total | ||
| 7-Dehydrocholesterol; Sterols | ||
| Urine | Bile acid profile; Creatine and guanidinoacetate; Metabolic screen; δ-1-Piperideine-6-carboxylate dehydrogenase (P6C) | |
| 7-Dehydrocholesterol; Organic acids; Orotic acid; Polyols; Sterols; Succinylacetone | ||
| Purines and pyrimidines | ||
| Mucopolysaccharides (MPS) | ||
| Chemical pathology - Newborn screening services for the diagnosis of inborn errors of metabolism | Dried blood spots | 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 | |
| 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/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 |
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 | Copy number variation (CNV) |
| Molecular genetics - DNA sequencing | Amniotic fluid; Blood; Chorionic villus tissue; Extracted DNA; Hair; Tissues | Sequenced DNA; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies |
| 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 | 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 |
| Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) | Amniotic fluid; Chorionic villus | Spinal muscular atrophy |
| Cystic fibrosis | ||
| 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
25 Nov 2024
END OF SCOPE