Women's and Children's Hospital, Adelaide
National Referral Laboratory

National Referral Laboratory for Lysosomal, Peroxisomal and Other Related Disorders

Department of Biochemical Genetics, SA Pathology

The National Referral Laboratory provides a national and international diagnostic service for a range of inherited metabolic disorders, focussing predominantly on the lysosomal storage disorders and peroxisomal disorders.

Using high quality biochemical and molecular testing, the laboratory offers initial diagnostic testing and prenatal diagnoses for over 60 different disorders. In addition, the laboratory also provides family studies, carrier testing, prognostic studies and/or monitoring of therapies, for many of these disorders.

Many of the services provided by the National Referral Laboratory are not offered elsewhere in Australasian region. As such, the laboratory routinely receives samples from South-East Asia, the Pacific basin and beyond.


Tests and Charges

For tests and charges, please refer to the SA Pathology Collection guide Link iconhere.

See here for information regarding WCH page link iconprenatal diagnoses.

Important Notes Regarding Test Charges

All charges are in Australian dollars and represent standard costings for the test described. For further information, please contact the laboratory.

Note that NRL tests are NOT covered by the Australian Medicare or Private Insurance Schemes. Please ensure that accurate billing information is included on the request form. Should the patient be paying for the testing, an agreement to pay form must accompany the request form and sample (available PDF iconhere).

 How to collect and send samples

To send samples to the National Referral Laboratory for analysis please see the following pages for details of sample collection and shipment.

WCH page link iconSpecimen collection and shipping conditions

WCH page link iconTransport details and required paperwork

Many of the tests performed within the National Referral Laboratory require the arrival of a fresh blood sample within 48 hours of collection. As this is often difficult to achieve, particularly from outside of Australia, it is also possible to prepare leucocytes and send these to us frozen for analysis. Leucocytes can be prepared using either of two WCH page link iconLeucocyte Preparation Methods. Both are equally suitable, although it can be difficult to obtain the Dextran required for the first method.


The National Referral Laboratory operates from 8am - 5pm, Monday to Friday. All specimens should be shipped to our laboratory be sent early in the week to ensure that they arrive before the weekend. If weekend deliveries can not be avoided, it is essential that the laboratory is contacted such that suitable arrangements can be made.

 Contact details

For information on the testing performed by the laboratory or regarding the availability of test results, please contact the laboratory at:

Phone: +61 (0)8 8161 6701 or 8161 6705
Fax: +61 (0)8 8161 7100

Postal Address

National Referral Laboratory
Dept of Biochemical Genetics
4th Floor, Rogerson Building
SA Pathology (at WCH)
72 King William Road
North Adelaide SA 5006

Laboratory Head


Scientific Staff

Kristian Brion
Sharon Chin
Melissa Gurner
Janina Pacyna
Tim Pyragius

Technical Staff

Julia Dobbins
Bev Fong
Sharna Lloyd-James
Kerry McDonald

Administrative officer

Nicole Cadzow

Phone: +61 (0)8 8161 7294
Fax: +61 (0)8 8161 7100
Email: nicole.cadzow@sa.gov.au

Genetic Pathologist

Dr Janice Fletcher

Phone: +61 (0)8 8161 7294
Fax: +61 (0)8 8161 7100
Email: janice.fletcher@sa.gov.au

Associated Staff

Peter Sharp
Minh-Uyen Trinh

last modified: 06 Feb 2018