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Clinical Neuroscience 

St Vincent’s Melbourne Neuromuscular Diagnostic Laboratory

 

As part of the Department of Clinical Neurosciences, our diagnostic laboratory offers molecular genetic testing and muscle protein analysis for a range of neuromuscular related disorders.

 

Tests performed

1. Molecular diagnostic screening for disorders associated with mitochondrial DNA variants such as:

  • Mitochondrial Encephalopathy, Lactic Acidosis and Stroke like episodes (MELAS)

  • Myoclonic Epilepsy and Ragged Red Fibres (MERRF)
  • Neuropathy Ataxia and Retinitis Pigmentosa (NARP) and Leigh’s Syndrome (LS)
  • Leber’s Hereditary Optic Neuropathy (LHON)
  • Kearns-Sayre Syndrome/Chronic Progressive External Ophthalmoplegia (KSS/CPEO)

     

 

2. Multiplex Western analysis for various muscular dystrophies 

  • Duchenne/Becker’s muscular Dystrophy (DMD/BMD)
  • Limb Girdle Muscular Dystrophy (LGMD 1C, 2A-2G)
  • Emery-Dreifuss Muscular Dystrophy (EMD)
  • Congenital Muscular Dystrophy (CMD)

 

3.  Limb Girdle Muscular Dystrophy Gene screening

  • Calpain gene
  • Caveolin gene
  • Telethonin gene
  • Fukutin Related Protein gene
  • Anoctamin 5 gene

Referrals
Download a copy of our flyer, Consent for payment of genetic testing formRequisition form for mitochondrial genetic tests, Requisition form for muscular dystrophy, Cost Recovery Letter and Specimen Handling protocol.

 

Contact details
Professor Steven Collins (Consultant Neurologist and head of diagnostic laboratory)

Dr Rosetta Marotta (Senior scientist)
Email: rosetta.marotta@svhm.org.au

St Vincent’s Melbourne Neuromuscular Diagnostic Laboratory
5th Floor Daly Wing, 35 Victoria Parade, Fitzroy VIC 3065
Tel: 03 9288 3366 Fax: 03 9288 3350

41 Victoria Parade, Fitzroy VIC 3065, Australia. Phone: (03) 9288 2211