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 Damien Bruno P: +61 (03) 99366571

Availability

Services available to external clients

Supervision

GX (General)

Scope of Accreditation

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

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; 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)

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

Service Product Determinant
Molecular genetics - DNA extraction Amniotic fluid; Blood; Bone marrow; Chorionic villus tissue; Muscle; OraCollect; Products of conception (POC); Tissues; Urine DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

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 Oestriol - Unconjugated
Free β-human chorionic gonadotropin (free β-hCG); Pregnancy associated plasma protein A (PAPP-A); α-Fetoprotein (AFP)

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

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

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

Service Product Determinant
Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) Amniotic fluid; Chorionic villus; Saliva Cystic fibrosis; Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; 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
Blood; Saliva; Tissue culture cells; Tissues Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Huntington's disease; Myotonic dystrophy; Spinocerebellar ataxia
Blood; Saliva; Tissues Spinal muscular atrophy

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

Service Product Determinant
Chemical pathology - Biochemical genetic services - Amino acid quantitation Cerebrospinal fluid (CSF); Plasma; Urine Alanine; 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 3-Hydroxybutyric acid
Free fatty acids - Total
Transferrin isoforms
7-Dehydrocholesterol; Sterols
Carnitine - Free
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 - 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 Free β-human chorionic gonadotropin (free β-hCG); Pregnancy associated plasma protein A (PAPP-A); α-Fetoprotein (AFP)
Oestriol - Unconjugated
Placental growth factor (PGF, PLGF)
Chemical pathology - Newborn screening services for the diagnosis of inborn errors of metabolism Dried blood spots Immunoreactive trypsinogen; Thyroid stimulating hormone (TSH)
Acylcarnitine profile; Amino acids

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

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

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

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; Buccal swabs; Chorionic villus tissue; Purified PCR product; Tissues; Urine Sequenced DNA; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes Blood; Dried blood spots; Saliva; Tissue culture cells; Tissues Duchenne-Becker muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; Mendelian disorders; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Blood; Dried blood spots; Saliva; Tissue culture cells; Tissues Motor neurone disease
Blood; Saliva; Tissue culture cells; Tissues Friedreich's ataxia (FRDA, FA)
Hereditary non-syndromic deafness
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; 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; Chorionic villus; Dried blood spots; Saliva; Tissue culture cells; Tissues Mendelian disorders
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 Copy number variation (CNV); Inherited disorders; Variants in the nuclear genome
Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic abnormalities - Diagnostic testing Amniotic fluid; Blood; Chorionic villus; Dried blood spots; Hair; Liver; Muscle; Products of conception (POC); Saliva; Tissue culture cells; Tissues; Urine Mitochondrial DNA analysis for specific or unknown variants
Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) Amniotic fluid; Chorionic villus; Chorionic villus tissue Cystic fibrosis
Amniotic fluid; Chorionic villus; Chorionic villus tissue; Cultured amniotic fluid cells; Cultured chorionic villus cells Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; Huntington's disease; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Myotonic dystrophy; Spinocerebellar ataxia; Stickler syndrome
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 Copy number variation (CNV); Cystic fibrosis; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Familial hypercholesterolemia; Fragile X syndrome (FRAXA); Friedreich's ataxia (FRDA, FA); Hereditary non-syndromic deafness; Huntington's disease; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Laminopathies; Malignant hyperthermia; Maturity onset diabetes of the young (MODY); Mendelian disorders; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Motor neurone disease; Myotonic dystrophy; Spinal muscular atrophy; Spinocerebellar ataxia

ISO 15189 (2012)

Human Pathology

Medicare expiry date

05 Sep 2022

Last Activity Date

08 Sep 2020

Service Product Determinant
Chemical pathology - Biochemical genetic services for the diagnosis of metabolic and enzymological disorders Blood; Skin; Skin fibroblasts Tissue culture and long term storage

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