Victorian Clinical Genetics Services Limited

Site

Victorian Clinical Genetics Services Limited

Accreditation No.

3171

Site No.

3164

Date of Accreditation

07 Jun 1991

Address

Royal Children's Hospital, Flemington Road
Parkville, VIC 3052
Australia

vcgs.org.au

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 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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; Muscle; Oral fluid; Products of conception (POC); Tissues; UrinePurifed DNA; Dried blood spot; Saliva 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; TissuesCultured cell pellet 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; Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; Huntington's disease; Myotonic dystrophy; Spinocerebellar ataxiac9orf72
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; TissuesBone marrow; Chorionic villus tissue; Cultured cell pellets 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; Dried blood spots; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Saliva; Skin fibroblasts; TissuesChorionic villus tissue; Bone marrow; Purified DNA 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; 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; UrineTissue; Buccal swabs 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; Huntington's disease; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Variants in the nuclear genomec9orf72 (ALS/FTD)
Molecular genetics - Predictive genetic testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; 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); Hereditary non-syndromic deafness; Huntington's disease; Myotonic dystrophy; Spinocerebellar ataxiac9orf72
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; Buccal swabs; Extracted DNA; Muscle; Products of conception (POC); SalivaChorionic villus tissue; Cultured cell pellets; Bone marrow Copy number variation (CNV); Inherited disorders; Mendelian disorders; Variants in the nuclear genome
Cytogenetics

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

Service Product Determinant
Cytogenetics - Detection of defined, 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 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)
DNA Laboratory

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

Service Product Determinant
Molecular genetics - DNA extraction Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Dried blood spots; Fibroblast cell pellets; Muscle; OraCollect; Products of conception (POC); Tissues; UrineFibroblast cell pellets DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing
Expanded Carrier Screening Laboratory

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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
Maternal Serum Screening laboratory

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

Service Product Determinant
Chemical pathology - Biochemical genetic services - Amino acid quantitation Cerebrospinal fluid (CSF); 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) Pyruvate or other amino acids
Dried blood spots Acylcarnitine profile; Amino acids
Plasma Free fatty acids - Total
Transferrin isoforms
3-Hydroxybutyric acid
7-Dehydrocholesterol; Sterols
Carnitine - Free; Carnitine - TotalCarnitine - total
Urine Bile acid profile; Creatine and guanidinoacetate; Metabolic screen; δ-1-Piperideine-6-carboxylate dehydrogenase (P6C)
Purines and pyrimidines
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 Acylcarnitine profile; Amino acids
Immunoreactive trypsinogen; Thyroid stimulating hormone (TSH)
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Dried blood spots Cystic fibrosis
NIPT

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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
Reproductive Genetic Carrier Screening Laboratory

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

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
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 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

07 Oct 2021

Service Product Determinant
Chemical pathology - Biochemical genetic services for the diagnosis of metabolic and enzymological disorders Amniotic fluid; Blood; Chorionic villus; Chorionic villus tissue; Plasma; Products of conception (POC); Skin; Skin fibroblasts Cultured amniotic fluid cells; Cultured chorionic villus cells; Tissue culture and long term storage

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