Referral to emergency

If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.

  • nil

For urgent referrals and/or clinical advice, please telephone the relevant metropolitan Local Health Network and ask to speak to the on-call geneticist and or duty genetic counsellor for the service required.

Central Adelaide Local Health Network 

  • Royal Adelaide Hospital -  Adult Genetics Unit (9.00 am to 5.00 pm) (08) 7074 2697

Women's and Children's Health Network

  • Women's and Children's Hospital - Paediatric and Reproductive Genetics Unit (8.30 am to 5.30 pm Monday to Friday (08) 8161 7000, pager #4831 and request genetics medical officer on call


Confirmed or suspected diagnosis/family history of:

  • adults with suspected genetic cerebral arteriopathy for example CADASIL, familial or young onset cerebral amyloid angiopathy
  • brain malformations
  • cerebral palsy where a genetic cause is suspected
  • complex autism
  • Creutzfeldt- Jakob Disease (CJD)
  • dystonia early onset – less than 50 years of age/familial or complex Parkinson Disease
  • epilepsy early onset, familial and/or syndromic
  • fragile X syndrome including fragile X tremor ataxia syndrome
  • frontotemporal dementia or complex dementia or early onset Alzheimer disease (under age 65)
  • hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease)
  • hereditary spastic paraplegia/paraparesis
  • Huntington’s disease
  • leukodystrophy
  • motor neurone disease
  • muscular dystrophy e.g. congenital, Duchenne, Becker, facioscapulohumeral, limb-girdle
  • myotonic dystrophy
  • spinal muscular atrophy
  • spinocerebellar ataxia
  • suspected genetic myopathy for example central core myopathy, nemaline myopathy


  • attention-deficit/hyperactivity disorder (ADHD) and other behavioural phenotypes where a neurological genetic cause is unlikely
  • essential autism
  • multifactorial conditions such as multiple sclerosis and most forms of Parkinson Disease
  • multiple system atrophy unless there is a family history

Triage categories

Category 1 — appointment clinically indicated within 30 days

  • individual with a personal and/or family history of a genetic cardiac condition
    • AND the patient or their partner is pregnant
    • AND review/genetic testing will impact investigation and management in pregnancy

Patients will generally be seen within 7 days, usually 2 to 3 days

Category 2 — appointment clinically indicated within 90 days

  • rapidly deteriorating symptoms with a neurological genetic condition
  • suspected Creutzfeldt-Jakob disease (CJD). Contact will usually be made within 7 days
  • individual with a personal and/or any family history of a genetic neurological condition, where a specific causative gene variant has been identified on a genetic test
  • individual with a personal history of a genetic neurological condition AND is currently on or about to commence a palliative care pathway. Contact will usually be made within 7 days

Category 3 — appointment clinically indicated within 365 days

  • individual with a personal and/or family history of a genetic neurological condition, with/without a specific causative gene variant identified on a genetic test

For information on referral forms and how to import them, please view general referral information.

Essential referral information

Completion required before first appointment to ensure patients are ready for care. Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.

  • identifies as Aboriginal and/or Torres Strait Islander
  • identify within your referral if you feel your patient is from a vulnerable population and/or requires a third party to receive correspondence on their behalf
  • interpreter requirements
  • as much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency e.g., has the referral been prompted by a pregnancy or imminently planned pregnancy
    • clinical diagnosis and features
    • age at diagnosis
    • treatment, completed and planned
    • details and results of genetic testing if performed
      • copy of genetic test result
    • relevant organ specific diagnostic investigations, histopathology reports and/or imaging results
  • presence or absence of relevant family history with relevant names of affected relatives

Additional information to assist triage categorisation

  • known details of relevant family history (first and second-degree blood relatives) including:
    • date of birth
    • previous names/surnames
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
    • autopsy reports where relevant and available
      • coronial autopsies require written consent from the coroner to be able to be shared
  • identify if the family is known to clinical Genetics in South Australia where possible, provide the genetics file number and names of relative/s seen
  • if the family are known to another genetic service, provide the location/name, and family reference number if available

Clinical management advice

The Paediatric and Reproductive Genetics unit (PRGU) provides services through a network of clinics at the Women’s and Children’s Hospital (WCH), Flinders Medical Centre (FMC), Port Augusta Hospital, Whyalla Hospital and Mount Gambier Hospital and telehealth. Referrals should still be addressed to the PRGU at WCH.

The Adult Genetics Unit (AGU) provides services through a network of clinics at the Queen Elizabeth Hospital, Royal Adelaide Hospital (RAH), Flinders Medical Centre (FMC), the Lyell McEwin Hospital and telehealth. All referrals should be addressed to the AGU.

The offer of an appointment by a Clinical Genetics clinic does NOT guarantee that a publicly funded genetic test will be offered.

If the patient is an UNTESTED blood relative of a person with an identified causative gene variant/chromosomal anomaly, please refer to the following CPC:

Patients will be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence (if requested). This may be followed by a telephone consultation with a genetic counsellor or allied health assistant prior to the appointment.

Consent forms may be provided for relatives for permission to access information about their health.

Referrals for children under 6 months are likely to be triaged with a higher priority.

Clinical resources

Consumer resources