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

Women's and Children's Health Network


Confirmed or suspected diagnosis/family history of:

  • chromosomal disorders (translocations, some specific chromosome disorders)
  • complex autism defined by:
    • the presence of dysmorphic features
    • microcephaly or macrocephaly ( > 98th centile)
  • connective tissue disorders
  • developmental delay/intellectual disability
  • dysmorphic features
  • fragile X syndrome
  • hereditary haemorrhagic telangiectasia (HHT)
  • known or suspected genetic syndrome
  • Marfan syndrome or other aortopathies
  • multiple congenital anomalies
  • suspected bone dysplasia for example, disproportionate short stature


  • essential autism
  • congenital/early onset sensorineural hearing loss
  • individuals with a personal and or family history suggestive of:
    • Ehlers Danlos syndrome (EDS) Type 3
      • hypermobility EDS
      • joint hypermobility spectrum
      • joint laxity or hypermobility
  • trisomy 21 and some common chromosomal disorders

Triage categories

Category 1 — appointment clinically indicated within 30 days

  • child affected with a genetic condition
    • and parent 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

  • individual with a personal and/or family history of a paediatric genetic condition
    • and a specific causative gene variant has been identified on a genetic test. Individual with a personal history of a genetic 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 any family history of a paediatric genetic condition, with/without a specific gene mutation/chromosomal anomaly identified on a genetic test

For more on outpatient referrals, see the general referral information page.

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, under guardianship/out-of-home care arrangements 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
    • clinical diagnosis and features
    • age at diagnosis
    • treatment completed and planned
    • details and results of genetic testing if performed, include a 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 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