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.
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
- Paediatric Cystic Fibrosis Service (08) 8161 7234, pager #4831
Confirmed or suspected diagnosis/family history of:
- children with Alpha-1 antitrypsin deficiency ZZ genotype
- pulmonary arterio-venous malformations suggestive of hereditary haemorrhagic telangiectasia
- primary ciliary dyskinesia
- primary pulmonary hypertension
- adults with Alpha-1 antitrypsin deficiency regardless of genotype
- adults with cystic fibrosis (CF) who are planning a family
- counselling for patient and partner and testing for partners is conducted through the adult CF Service as part of routine care
- children with Alpha-1 antitrypsin deficiency minor genotypes
Category 1 — appointment clinically indicated within 30 days
- individual with a personal and/or family history of a genetic respiratory condition
- and the patient or their partner is pregnant
- and review/genetic testing will impact investigation and management in pregnancy
- and the patient or their partner is pregnant
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 any family history of a genetic respiratory condition, where a specific causative gene variant has been identified on a genetic test
- sudden death of suspected genetic origin in a first degree relative
- individual with a personal history of a genetic cardiac 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 genetic respiratory condition, where a specific causative gene variant has not been identified on a genetic test
For information on referral forms and how to import them, please view general referral information.
Referrals or advice for individuals known to have CF or suspected of having CF should be sent to:
- Paediatric Cystic Fibrosis Service, Department of Respiratory and Sleep Medicine, Women’s and Children’s Hospital
- phone (08) 8161 7234, fax (08) 8161 9192.
- Adult Cystic Fibrosis Service, Royal Adelaide Hospital
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 including 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.
- Central Adelaide Local Health Network - Adult Genetics Unit Referral Form (PDF 216KB)
- National Health Service (UK) - Alpha-1 Antitrypsin Fact Sheet
- Health Centre for Genetics Education (New South Wales)
- Pathology Tests Explained - Alpha-1 Antitrypsin Deficiency
- Royal Australian College of General Practitioners (RACGP) - Genomics in General Practice
- QIMR Berghofer Medical Research Institute - Your Blood, Your Story video for Aboriginal & Torres Strait Islanders