NSW Health Pathology

Site

Molecular Medicine Laboratory

Accreditation No.

2114

Site No.

24908

Date of Accreditation

26 Mar 2020

Address

Building 20A, 2 Hospital Road
Concord Repatriation Hospital, NSW 2139
Australia

cs.nsw.gov.au

Contact

Ms Wafa Jeha P: +61 (02) 97677029

Availability

Services available to external clients

Supervision

B (Branch)

Scope of Accreditation

ISO 15189 (2012)

Human Pathology

Medicare expiry date

24 Jan 2024

Service Product Determinant
Immunopathology - Detection and/or quantitation and/or characterisation of autoantibodies Serum Anti-muscle specific kinase antibodies (MuSK)
Anti-acetylcholine receptor antibodies (AChR)
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Blood; Extracted DNA Charcot-Marie-Tooth neuropathy; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Facioscapulohumeral muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary spastic paraplegia; Kennedy's disease (spinal and bulbar muscular atrophy); Motor neurone disease; Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Parkinson's disease; Spinocerebellar ataxia
Molecular genetics - DNA extraction Amniotic fluid; Blood; Buccal swabs; Chorionic villus tissue DNA storage for future analyses; Viable DNA; Viable DNA for sequencing
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes Blood; Extracted DNA Charcot-Marie-Tooth neuropathy; Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Parkinson's disease
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted panels for inherited (germline) DNA/RNA changes Blood; Extracted DNA Charcot-Marie-Tooth neuropathy; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Facioscapulohumeral muscular dystrophy; Familial motor neurone disease - Amyotrophic lateral sclerosis (ALS); Friedreich's ataxia (FRDA, FA); Hereditary spastic paraplegia; Oculopharyngeal muscular dystrophy; Spinocerebellar ataxia
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Blood; Extracted DNA Charcot-Marie-Tooth neuropathy; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Facioscapulohumeral muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Kennedy's disease (spinal and bulbar muscular atrophy); Motor neurone disease; Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Spinocerebellar ataxia
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changesExcludes sequencing Blood; Extracted DNA Ataxia; Congenital myasthenic syndrome; Dystonia; Hereditary spastic paraplegia; Motor neurone disease; Neurodevelopmental delay; Peripheral neuropathy
Molecular genetics - Predictive genetic testing - Targeted genes Blood Charcot-Marie-Tooth neuropathy; Familial motor neurone disease - Amyotrophic lateral sclerosis (ALS); Hereditary sensory neuropathy; Hereditary spastic paraplegia
Molecular genetics - Predictive genetic testing - Targeted panels for inherited (germline) DNA/RNA changes Blood Charcot-Marie-Tooth neuropathy; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Facioscapulohumeral muscular dystrophy; Familial motor neurone disease - Amyotrophic lateral sclerosis (ALS); Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Kennedy's disease (spinal and bulbar muscular atrophy); Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Spinocerebellar ataxia
Molecular genetics - Screening for an unknown mutation - Targeted genes Blood; Extracted DNA Charcot-Marie-Tooth neuropathy; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Facioscapulohumeral muscular dystrophy; Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Kennedy's disease (spinal and bulbar muscular atrophy); Motor neurone disease; Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Spinocerebellar ataxia

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