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.
For tests and charges, please refer to the SA Pathology Collection guide here.
See here for information regarding prenatal 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 here).
To send samples to the National Referral Laboratory for analysis please see the following pages for details of sample collection and shipment.
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 Leucocyte 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.
For information on the testing performed by the laboratory or regarding the availability of test results, please contact the laboratory at:
last modified: 06 Feb 2018