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

Regardless of age, for urgent referrals and/or clinical advice related to cancer predisposition, please telephone the Adults Genetics Unit (including familial cancer) and ask to speak to the on-call geneticist and or duty genetic counsellor.

Adults Genetics Unit

Adult Genetics Unit (including familial cancer) within Central Adelaide Local Health Network:


Myeloid neoplasia/malignancy

  • a myeloid neoplasia or malignancy diagnosed in childhood or adolescence

Lymphoid malignancy

  • low hypodiploid acute lymphoblastic leukemia (ALL) diagnosed in childhood or adolescence
  • T-cell lymphoblastic lymphoma diagnosed in childhood or adolescence especially if café-au-lait macules present
  • lymphoid leukaemia, or lymphoma and one or more of the following:
    • diagnosed with a second independent haematological neoplasia/cancer
    • preceding bone marrow failure or unexplained cytopenia
    • preceding platelet disorder or thrombocytopenia
    • unexplained macrocytosis
    • immunodeficiency
    • recurrent infections
  • lymphoid leukaemia, or lymphoma and one or more of the following:
    • also diagnosed with a solid primary cancer, including skin basal or squamous cell carcinomas
    • primary lymphoedema
    • interstitial lung disease e.g., pneumonitis, idiopathic pulmonary fibrosis, emphysema
    • liver fibrosis
    • premature greying
    • features of dyskeratosis congenita e.g. oral leucoplakia, nail dystrophy, reticular hyperpigmentation of the skin, avascular necrosis of the hips or shoulders, bilateral exudative retinopathy
    • features suggestive of a genetic syndrome e.g., dysmorphic features, congenital anomalies, intellectual disability, multiple café-au-lait macules, skeletal abnormalities, short stature, cerebellar hypoplasia
  • acute leukaemia and a family history of one or more close relative with a core Li-Fraumeni associated cancer/tumour e.g., premenopausal breast cancer, soft tissue sarcoma, osteosarcoma, brain tumour, adrenocortical or choroid plexus carcinoma
  • lymphoid leukaemia, or lymphoma and a family history of two or more relatives on the same side of the family with MDS, leukaemia, unexplained cytopenia or macrocytosis
  • lymphoid leukaemia and a suspicious variant on a somatic gene panel including:
    • bi-allelic CEBPA variants
    • monosomy 7 or del 7q
    • truncating DDX41 variant or bi-allelic DDX41 variants
    • acute leukaemia with del 9p or dicentric chromosome 9 (PAX5 locus)
    • monoallelic DDX41, GATA2, RUNX1 or TP53 variant with a variant allele frequency (VAF) above 30%
    • variant in solid cancer predisposition gene with a VAF above 30 e.g., BRCA2


Triage categories

Category 1 (appointment clinically indicated within 30 days)

  • distant metastatic disease with a short predicted life expectancy, contact will usually be made within 7 days
  • results of genetic testing, if offered, will influence local or systemic treatment decisions
  • personal and or family history of cancer with high suspicion of a cancer predisposition and the patient and or their partner is pregnant and review/genetic testing will impact investigation and management in pregnancy. Contact will generally be made within 7 days, usually 2-3 days

Category 2 (appointment clinically indicated within 90 days)

  • personal and/or any family history of a genetic cancer predisposition, where a specific causative gene variant has been identified on a genetic test
  • personal history of cancer and is currently on, or about to go onto a palliative care pathway, contact will usually be made within 7 days
  • referral recommended after review of a relative
  • tumour testing has identified a potential germline mutation in a genetic cancer predisposition gene

Category 3 (appointment clinically indicated within 365 days)

  • all other referrals meeting inclusion criteria for the relevant cancer/tumour

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 required
  • as much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency. Has the referral been prompted by a pregnancy or imminently planned pregnancy? Will a genetic test result inform local or systemic treatment decisions?
    • planned time frame of chemotherapy, radiotherapy, or surgery to indicate when genetic test results are required, if offered
    • cancer/tumour diagnosis, age at diagnosis and other clinical features
    • details of prognosis in patients with metastatic disease
    • details and results of genetic testing if performed including a copy of the genetic test result
    • relevant histopathology reports and/or imaging results
  • presence or absence of relevant family history with 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
  • if the family is known to a Clinical Genetics service in South Australia, if possible, please provide the genetics file number and names of relative/s seen
  • if the family are known to another genetic service, the name of the service, and family reference number if available

Clinical management advice

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

The offer of an appointment by clinical genetics does not guarantee that a publicly funded genetic test will be offered.

If the patient has a limited life expectancy, arrange collection of 2 x 4ml of blood in ethylenediamine tetraacetic acid (EDTA); the request form should ask for “deoxyribonucleic acid (DNA) storage” and include a brief note giving the personal and family history. Send to Molecular Pathology, SA Pathology at Frome Road, Adelaide, 5000.

Patients may be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence. 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 allowing permission to access information about their health.

Clinical resources

Consumer resources