This site contains the South Australian Clinical Prioritisation Criteria (CPC) for most frequently referred genetics conditions.

Genetics conditions

Please note this is not an exhaustive list of all conditions for outpatient services and does not exclude consideration for referral unless specifically stipulated in the general genetics exclusions section.

Out of scope

Not all medical conditions are covered by the CPC, as certain conditions may be considered out of scope or managed by other specialist services:

  • adult diagnostic testing for metabolic conditions – refer to Metabolic Service at the Royal Adelaide Hospital (RAH)
  • cancer genetics – please refer to the Cancer Genetics CPC
    • heritable endocrine tumours including:
      • medullary thyroid cancer
      • paraganglioma/phaeochromocytoma
      • young-onset or familial pituitary adenomas
      • multiple endocrine tumour syndromes
      • young-onset or multiglandular primary hyperparathyroidism
      • refer to Cancer Genetics CPC
  • confirmed or suspected clinical diagnosis of Huntington disease – refer to Neurology Movement Disorders (including Parkinson’s Disease and Tremor) - adult CPC
  • familial hypercholesterolaemia (adult and paediatric)
  • hereditary haemochromatosis - refer to haematology
  • ischaemic heart disease – refer to Angina/Myocardial Ischaemia/Chest Pain — adult Cardiology CPC
  • paediatric diagnostic testing for metabolic conditions – refer to Metabolic Service at the Women’s and Children’s Local Health Network (WCHN)
  • pregnant couples with screening bloods indicating a risk of thalassemia/haemoglobinopathy in the foetus – refer to Haematology
  • pregnant individuals with an abnormal or ‘increased risk’ result on non-invasive prenatal testing (NIPT) or first trimester screening - refer to maternal foetal medicine
  • pregnant women with non-invasive prenatal testing (NIPT) or first trimester screening (nuchal translucency + ßHCG + PAPP-A) indicate a high risk of chromosomal condition - refer to maternal foetal medicine
  • reproductive carrier screening for couples except for those at increased risk due to consanguinity, ethnicity e.g. Ashkenazi Jewish, or a family history of a genetic disorder
  • reproductive carrier screening for thalassemia and haemoglobinopathies - refer to haematology
  • thalassemia or haemoglobinopathy – refer to haematology

Exclusions for public specialist outpatient services

Not all genetics conditions are appropriate for referral into the South Australian public health system. The following are not routinely provided in a public specialist outpatient service:

  • acute reproductive counselling for couples undergoing In Vitro Fertilization (IVF)
    • genetic counselling services should be available via individual IVF clinics
  • 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
  • attention-deficit/hyperactivity disorder (ADHD) and other behavioural phenotypes where a neurological genetic cause is unlikely
  • children with Alpha-1 antitrypsin deficiency minor genotypes
  • common microarray 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
  • direct to consumer genetic testing 
  • essential autism
  • genetic counselling relating to CF – refer to metabolic genetic service at the Women’s and Children’s Hospital
  • individuals who are not residents of SA unless their treatment is based in Adelaide
    • please note that the Victorian Clinical Genetics Service is funded to provide services to the Northern Territory
  • individuals with a personal and or family history suggestive of:
    • adults with Alpha-1 antitrypsin deficiency (regardless of genotype) 
    • children with Alpha-1 antitrypsin deficiency minor genotypes (except for children with ZZ genotype)
    • carrier testing for thalassemia and haemoglobinopathies
    • confirmed causative ophthalmic gene variant except for reproductive planning
    • congenital/early onset sensorineural hearing loss
    • Ehlers Danlos syndrome (EDS) type 3 including:
      • hypermobility EDS
      • joint hypermobility spectrum
      • joint laxity or hypermobility
    • genetic testing of the methylenetetrahydrofolate reductase (MTHFR) gene
    • genetic testing relating to paternity
    • pregnant women with an increased risk due to advanced maternal age
    • type 1 or type 2 Diabetes where the probability of a monogenic form of diabetes is low
  • microarray results identifying the individual as a carrier of a recessive genetic condition
  • multifactorial conditions such as multiple sclerosis and most forms of Parkinson Disease
  • multiple system atrophy (unless there is a family history)
  • paternity contesting or assertion genetic testing
  • pregnant women with an increased risk due to advanced maternal age
  • pre-test counselling for reproductive carrier screening in low-risk couples not known to the PRGU
  • reproductive carrier screening for couples except for those at increased risk due to consanguinity, ethnicity (for example Ashkenazi Jewish) or a family history of a genetic
  • testing of children for adult-onset genetic conditions
  • trisomy 21 and some common chromosomal disorders
  • unilateral cataracts in childhood
  • variant in a gene of limited or unknown clinical utility
  • variant of uncertain significance (unclassified or class 3 variant)

Emergency information

See the individual condition pages for more specific emergency information.

Feedback

We welcome requests for further information or feedback on the CPC and website, please refer to the relevant form below.

Please email the completed form to Health.CPC@sa.gov.au.

Review

The General Genetics CPC will be reviewed in June 2025.

Evidence statement