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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, muscle protein analysis and autoimmune encephalitis testing 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

·         LGMD 1C   Caveolin (CAV3)gene

·         LGMD 2A Calpain 3 (CAPN3) gene

·         LGMD 2G Telethonin (TCAP) gene

·         LGMD 2I Fukutin Related Protein (FKRP) gene

·         LGMD2L Anoctamin 5 (ANO5) gene


  4. Hereditary Inclusion Body Myositis Gene screening

 Uridine diphosphate N-actyl-glucosamine-2-epimerase N-acetyl mannosamine kinase (GNE) gene


  5. Autoimmune Encephalopathy Testing –indirect immunofluorescence-antibodies against:

·         Voltage gated potassium channel associated proteins (VGKC) LG1 and CASPR2

·         Glutamate receptor type NMDA

·         Glutamate receptor type AMPA R1 and R2
·         GABAB receptors B1 and B2


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

You can also download the specimen handling protocol for encephalitis testing and the requisition form for encephalitis testing. 

Contact details
Professor Steven Collins (Consultant Neurologist and Head of Diagnostic Laboratory)

Dr Rosetta Marotta (Senior scientist)

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