
National Association of Testing Authorities, Australia
Scope of Accreditation
NSW Health Pathology
Site
Molecular Medicine Laboratory
Accreditation No.
2114
Site No.
24908
Date of Accreditation
26 Mar 2020
Contact
Ms Wafa Jeha
P: +61 (02) 97677029
Availability
Services available to external clients
Supervision
B (Branch)
Scope of Accreditation
Molecular Medicine Laboratory
ISO 15189 (2012)
- This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.
Human Pathology
Medicare expiry date
24 Jan 2024
Service | Product | Determinant |
---|---|---|
Immunopathology - Detection and/or quantitation and/or characterisation of autoantibodies | Serum | Anti-acetylcholine receptor antibodies (AChR) |
Anti-muscle specific kinase antibodies (MuSK) | ||
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 - 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 - Screening for an unknown mutation - Targeted genes | Blood; Extracted DNA | Charcot-Marie-Tooth neuropathy; Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Motor neurone disease |
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.
2114
Site No.
24908
Print date
16 Aug 2022
END OF SCOPE