Management of symptomatic individuals

  1. Diagnostic genetic testing for some conditions may be performed to confirm a clinical suspicion and/or to identify the causative mutation, enabling at-risk individuals to have predictive genetic testing (see Contacts, support and testing).
  2. Genetic testing can be complex and is often best arranged by a clinical geneticist or clinicians in a neurogenetics clinic after detailed neurological assessment.
  3. Depending on the condition, referral of the individual to a neurogenetics clinic or Genetics Services before or after genetic testing for information, counselling and/or case management is important to ensure people have access to the best range of supports to meet their needs and also so that the family implications of the diagnosis can be considered.
  4. Contact Genetics Services for details of the most appropriate clinic for referral.
  5. Consider referral to a support group for the condition, as it may be a useful and supportive contact for the person (see Contacts, support and testing).
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Management of asymptomatic at-risk individuals

  1. Predictive testing may be available through Genetics Services or specialist neurogenetics clinic.
  2. In some cases a family-specific mutation has to be identified in an affected family member before predictive testing can be offered.
  3. Consider referral to a support group for the condition they are at risk for, as it may be a useful and supportive contact for the person (see Contacts, support and testing).
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