NSW Health Pathology

Site

Molecular Medicine Laboratory

Accreditation No.

2146

Site No.

24908

Date of Accreditation

26 Mar 2020

Address

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

Contact

Ms Wafa Jeha P: +61 (02) 97677029

Availability

Services available to external clients

Supervision

B (Branch)

NSW Health Pathology address map

Scope of Accreditation

Print scopes
Molecular Medicine Laboratory

ISO 15189 (2022)

  • This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.

Human Pathology

Medicare expiry date

24 Jan 2027

Last Activity Date

29 Jun 2022

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; Copy number variation (CNV); Friedreich's ataxia (FRDA, FA); Hereditary spastic paraplegia; Inherited disorders
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; Huntington's disease; 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; Copy number variation (CNV); Dystonia; Hereditary spastic paraplegia; Inherited disorders; Motor neurone disease; Neurodevelopmental delay; Nucleic acid analysis for unknown variants; Peripheral neuropathy; Variants in the nuclear genome
Molecular genetics - Predictive genetic testing - Targeted genes Blood Charcot-Marie-Tooth neuropathy; Copy number variation (CNV); 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; Huntington's disease; Inherited disorders; Kennedy's disease (spinal and bulbar muscular atrophy); Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Spinocerebellar ataxia
Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) Chorionic villus tissue; Extracted DNA Charcot-Marie-Tooth neuropathy; Friedreich's ataxia (FRDA, FA); Hereditary sensory neuropathy; Hereditary spastic paraplegia; Huntington's disease; Kennedy's disease (spinal and bulbar muscular atrophy); Motor neurone disease; Myotonic dystrophy; Spinocerebellar ataxia
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
Molecular genetics/Cytogenetics - Bioinformatic analysis DNA sequences; FASTQ files Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation

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