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

Inclusions

Confirmed or suspected diagnosis/family history of:

  • a chromosome abnormality has been identified and report indicates causality for the individual’s presentation
  • an individual who is pregnant or planning a pregnancy with any microarray abnormality that could be passed to offspring – refer to Paediatric and Reproductive Genetics Unit
  • deletions or duplications on microarray that are classified as variants of uncertain significance where clinical geneticist interpretation is required
  • incidental genetic findings identified on microarray that confer a future risk to an individual’s health, for example, increased risk of cancer

Exclusions

  • microarray results identifying the individual as a carrier of a recessive genetic condition
  • more common deletions and duplications where there is a detailed unique booklet. If the individual/couple is planning a pregnancy or currently pregnant, then referral should be considered. Examples of common deletions and duplications include:
    • 1q21.1 deletion or duplication
    • 15q11.2 deletion or duplication
    • 16p11.2 deletion or duplication

Triage categories

Category 1 — appointment clinically indicated within 30 days

  • an individual who has any microarray abnormality that could be passed to offspring
    • 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

  • a new diagnosis of a chromosome abnormality and the microarray report indicates causality for the individual’s presentation
  • an individual who has any microarray abnormality that could be passed to offspring currently planning a pregnancy
  • incidental genetic findings identified on microarray that confer a future risk to an individual’s health, for example, increased risk of cancer

Category 3 — appointment clinically indicated within 365 days

  • a microarray finding classified as a variant of uncertain significance where clinical geneticist interpretation is required

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, 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 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.

An individual who is pregnant or planning a pregnancy who has any microarray abnormality that could be passed to offspring (please refer to PRGU.

Clinical resources

Consumer resources