The usefulness of genetic testing for degenerative neurogenetic conditions depends on the condition. While the genetic basis of some neurological conditions is well understood, the basis of others is not. Some of the more common neurogenetic conditions, such as Alzheimer disease or Parkinson disease, have subsets with a clear genetic cause, while the cause of other cases is unknown.
Family history is important in being able to identify genetic causes of neurological conditions. A genetic cause is more likely if there are two or more family members with the same condition, and the condition has presented with an earlier than average age of onset.
VCGS offers exome and genome sequencing for the diagnosis of a wide range of degenerative neurogenetic conditions. Information about the conditions we test for, and the phenotype specific gene panels (via PanelApp Australia) can be found below.
- For more information about testing via exome or genome sequencing, specimen requirements and test ordering, please refer to our genomic sequencing page.
- Information about repeat expansion analysis of the C9orf72 gene for frontotemporal dementia (FTD) as a separate test is available below.
Genomic sequencing is a valuable diagnostic tool, providing a reliable and effective way to analyse a large number of genes simultaneously to identify disease-causing variants in patients with complex neurogenetic conditions. Below are the conditions we test for, linking through to information about the pre-curated, phenotype specific panels used by VCGS (via PanelApp Australia).
- Early onset dementia
- Frontotemporal dementia C9orf72 repeat expansion analysis
- Hereditary neuropathy
- Hereditary neuropathy: Charcot-Marie-Tooth disease (CMT)
- Hereditary spastic paraplegia (HSP)
- Motor neurone disease (MND)
- Parkinson disease (PD)
Other genetic testing for neurological conditions: non-sequence based testing is available for a range of other neurological conditions, including Huntington disease, spinal cerebellar ataxia and Duchenne muscular dystrophy. You can search for additional tests here.