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

Inclusions

  • confirmed or suspected diagnosis/family history of:
    • Alpha-1 antitrypsin deficiency children with ZZ genotype
    • suspected genetic connective tissue disorder, please ensure an echocardiogram and ophthalmology review has been requested
      • Marfan syndrome
      • Loeys Dietz syndrome
      • vascular Ehlers-Danlos syndrome
    • neurofibromatosis type 1
    • hereditary haemorrhagic telangiectasia (HHT)
    • suspected genetic autoinflammatory syndrome
      • familial Mediterranean fever,
      • Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) 
    • genetic skeletal dysplasia
      • achondroplasia
      • multiple epiphyseal dysplasia
      • Stickler syndrome)
    • genetic immunodeficiency syndrome (common variable immunodeficiency, agammaglobulinemia)
  • unexplained intellectual disability

Exclusions

  • individuals who are not residents of SA unless their treatment is based in Adelaide. The Victorian Clinical Genetics Service is funded to provide services to the Northern Territory.
  • individuals with a personal and or family history suggestive of:
    • acute reproductive counselling for couples undergoing In Vitro Fertilization (IVF)
    • adults with Alpha-1 antitrypsin deficiency (regardless of genotype)  
    • children with Alpha-1 antitrypsin deficiency minor genotypes
    • congenital/early onset sensorineural hearing loss
    • direct to consumer genetic testing  
    • Ehlers Danlos syndrome (EDS) type 3 including:
      • hypermobility EDS
      • joint hypermobility spectrum
      • joint laxity or hypermobility  
    • essential autism
    • genetic testing of the methylenetetrahydrofolate reductase (MTHFR) gene
    • genetic testing relating to paternity   
    • pregnant women with an increased risk due to advanced maternal age 
    • some microarray abnormalities – refer to Microarray Abnormalities Adult and Paediatric Genetics CPC
    • type 1 or type 2 Diabetes where the probability of a monogenic form of diabetes is low 

Triage categories

Category 1 — appointment clinically indicated within 30 days

  • individual with a personal and/or family history of a genetic  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

  • individual (18 years or older) with a personal and/or family history of a 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 (18 years or older) with a personal and/or family history of a genetic condition 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, 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 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.

Clinical resources

Consumer resources