Neurogenetics

PathWest Department of Diagnostic Genomics offers a comprehensive range of tests for investigation of neurological and neuromuscular phenotypes, including but not limited to:

  • Ataxia
  • Charcot-Marie-Tooth disease (PMP22-related testing covered by Medicare item 73294)
  • Congenital muscular dystrophy
  • Congenital myasthenic syndrome
  • Distal arthrogryposis
  • Dystonia
  • Epilepsy
  • Facioscapulohumeral muscular dystrophy
  • Glycogen storage disease
  • Hereditary spastic paraplegia
  • Huntington disease
  • Hypotonia
  • Leukodystrophy
  • Limb girdle muscular dystrophy
  • Lissencephaly
  • Mitochondrial disorders
  • Motor neuron disease
  • Myopathy
  • Myotonic dystrophy
  • Neurodegeneration
  • Rett syndrome
  • Spinal muscular atrophy

Heterogeneous neuromuscular genetic disorders are assessed by comprehensive gene panels (see neuro and muscular lists) developed by leading experts in the field through translational research conducted in this laboratory.
 
For the full range of tests provided and information on sample requirements, please refer to the Online Test Directory.

For conditions not covered by Medicare, testing may be available upon appropriate consent.
Last Updated: 01/12/2021