Blood & CSF Tests including Genetic Tests

05 November 2004

More commonly requested tests

Mitochondrial mutations performed at St Vincent's Hospital Neuromuscular Research laboratories ph 92882211.

Brain protein 14-3-3 for CJD and prion protein gene polymorphisms testing at Australian CJD registry, Level 5, Medical Building, Cnr Grattan St & Royal Parade, Melbourne. 3052 (based at University of Melbourne)  ph: 83444780    fax: 83444004.

Genetic tests including DRPLA, Friedreich's, SCA1,2,3,6,7,10,12, HSP should be sent to Victorian Clinical Genetic Services, Murdoch Children's Research Institute, Royal Children's Hospital ph: 83416200    murdoch.rch.unimelb.edu.au/

Rare or unusual tests

www.medeserv.com.au/aan/index.cfm    Australian Association of Neurologists site that provides a nationwide list of where to order tests.

www.health.adelaide.edu.au/NRL/NRLhome2.htm    National Referral Laboratory for Lysosomal Peroxismal and Related Genetic Disorders, Women's and Children's Hospital, Adelaide.

murdoch.rch.unimelb.edu.au/    For genetic testing: Victorian Clinical Genetic Services, Murdoch Children's Research Institute, Royal Children's Hospital ph: 83416200

www.mda.org.au/mnr    neuromuscular research institute

www.athenadiagnostics.com    If patients are willing to pay, Athena Diagnostics (based in USA) is recommended.