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Complex neurological and neurodegenerative diseases

Early diagnosis of complex neurological and neurodegenerative conditions by genomic sequencing may circumvent expensive, ongoing and invasive medical investigations.

Diagnosis of complex neurological and neurodegenerative conditions typically takes at least three to five years, and can involve multiple, costly and invasive medical procedures.

The complex neurological and neurodegenerative conditions to be investigated include: ataxia, early-onset dementia, hereditary spastic paraplegia, early-onset Parkinson’s disease, dystonia, early-onset motor neurone disease, and undiagnosed multisystem disease.

Early diagnosis by genomic sequencing may circumvent expensive, ongoing and invasive medical investigations: avoiding distress associated with the “diagnostic odyssey” often experienced before a definitive diagnosis is reached, reducing patient and family burden, and ensuring that early, better targeted support services (such as mental health and disability services) can be provided.