Clinical Neuroscience

St Vincent’s Hospital (Melbourne) Limited  Mitochondrial and Autoimmune Neurological Disorders Laboratory

As part of the Department of Clinical Neurosciences, our diagnostic laboratory offers mitochondrial genetic testing and autoimmune encephalitis testing for a range of neurological 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. 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
  • Dipeptidyl aminopeptidase-like protein 6 (DPPX)

Resources



Contact Us

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

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

 

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