SA Clinical Genetics Service

SA Clinical Genetics Service - Clinical Genetics Unit

The SA Clinical Genetics Service provides a statewide clinical genetics and genetic counselling service within South Australia and in neighbouring areas of adjacent states.

We work closely with laboratories offering chromosome tests, tests for inborn errors of metabolism, maternal serum and neonatal screening and disorders diagnosed by molecular genetic techniques.

The service is provided through a network of clinics at the WCH, the Royal Adelaide Hospital, Flinders Medical Centre, Lyell McEwin Health Service, Port Augusta Hospital, Whyalla Hospital and Mount Gambier Hospital.

Services include:

  • Diagnosis, especially of babies with several birth defects, syndromes associated with an abnormal appearance and craniofacial disorders.
  • Specialist genetic counselling in regard to:
    • Genetic/inherited disorders with onset at any age
    • Prenatal diagnosis: risk assessment and counselling for at-risk couples
    • Genetic testing for certain disorders which start late in life
    • Preimplantation genetic diagnosis: risk assessment and counselling for at-risk couples
    • Carrier detection
    • Chromosome abnormalities
  • Diagnosis and management of bone dysplasias (conditions causing severe short stature)
  • Counselling and support concerning the impact of a genetic disorder.

How to access the service

To make an appointment at any of our clinic sites, post or fax (08) 8161 6088 a referral letter to the Clinic Coordinator, SACGS at the WCH, who will then contact you with details of an appointment time and date.

A referral letter from a medical practitioner is required and should reach us prior to the appointment date. Referral from other health professionals will be accepted in some circumstances.


9am to 5pm weekdays

Contact Information

Acting Head, South Australian Clinical Genetics Unit
Dr Elizabeth Thompson


8th Floor, Rieger Building

Mailing Address

South Australian Clinical Genetics Service
Women's and Children's Hospital
72 King William Road
North Adelaide 
South Australia 5006


General Enquiries Ph (08) 8161 7375 or (08) 8161 7010
Appointments (08) 8161 6898
After hours (08) 8161 7375 or(08) 8161 7010 (answering maching) or contact the WCH Switchboard on (08) 8161 7000 for the duty clinical geneticist

Fax (08) 8161 6088



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Last Modified: 31-10-2011 15:01:21

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