women's and children's hospital adelaide

Cytogenetics Laboratory

The Cytogenetics Laboratory provides chromosome studies as a state wide service to South Australia and to people referred from interstate and overseas. This includes a full cytogenetic diagnostic service from blood, amniotic fluid, chorionic villus biopsies, and other solid tissues for both children and adults including prenatal and post-natal diagnosis.

Molecular cytogenetic studies (FISH) are available for diagnosis of Charcot-Marie-Tooth Neuropathy type 1, hereditary neuropathy with liability to pressure palsies, subtelomere testing and a range of chromosomal microdeletion syndromes.

Interphase FISH studies are available, on amniotic fluid samples, for rapid prenatal diagnosis.

The Laboratory works closely with the South Australian Clinical Genetics Service and other Clinicians who provide genetic counselling to patients. The Laboratory is accredited under the NATA/RCPA pathology accreditation scheme and participates in the Australian Society of Cytogenetics/Human Genetic Society external quality assessment program.

How to access the service

Patient Referral

Patients (with request form or referral letter) should report to Pathology Collection Service, 4th floor, Rieger Building.

The Pathology Collection Service is staffed from 8.30am to 5pm Monday to Friday, and from 8.30am to 11.30am on weekends and public holidays to provide a service for inpatients and outpatients.

Specimen Referral

Most laboratory tests are ordered by medical practitioners on standard laboratory request forms. It is not necessary to write a separate form for each laboratory department, and requesting medical practitioners are encouraged to submit any number of specimens and the requested investigations for a patient pathology episode on a single form. Specimens and completed pathology request forms should be forwarded to the Pathology Collection Service.

Courier Services for Specimens

Specimens may be delivered to the WCH via the State Pathology Courier Service by calling (08) 8222 3530 between 8am and 6pm Monday to Friday; between 9am and 12noon, on Saturday; between 9am and 1pm on public holidays (there is no collection on Sundays). Forms should be clearly marked "To the WCH".

Sample Requirements

Prenatal Diagnosis

Prenatal Fluorescence In Situ Hybridisation (FISH)

Post Mortem Materials and Products of Conception

Diagnostic Tests