National Referral Laboratory

National Referral Laboratory for Lysosomal, Peroxisomal & 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.

The National Referral Laboratory works in close association with the Metabolic Laboratory and Neonatal Screening Laboratory allowing the provision of an integrated and efficient diagnostic service. There is also a strong relationship with the Lysosomal Diseases Research Unit, facilitating the development and integration of research activities into the patient diagnostic services of the laboratory.

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 offered by laboratory; How to collect & send samples; Related sites; Publications; Contact details.


Tests offered by the service

Disease Index: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

To access information on the tests and screens offered by the National Referral Laboratory, click on the links below or use the Disease Index (above) to quickly jump to the relevant disorder. These links also include information on the type of testing available for each disorder, the required specimens, the cost for each test and our diagnostic record.

Prenatal diagnoses are also available for the majority of disorders diagnosed in the National Referral Laboratory. Specific details for each disorder are provided on the Tests, specimens and diagnostic record page or, for general details on prenatal diagnoses such as required family samples and shipping, visit our prenatal diagnoses page.


How to access the service

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.


Related sites

The two pages listed below contain relevant links related to the services offered by the National Referral Laboratory:


Resources and Publications

The National Referral Laboratory has a continuing interest in the improvement and advancement in methods for analysis of lysosomal and peroxisomal disorders. We work closely with the Lysosomal Diseases Research Unit in the development and introduction of new technologies. This has included the introduction of screening of a-glucosidase activity for Pompe disease in dried blood spots using immuno-capture technologies. We are also currently validating methodologies for the analysis of urine mucopolysaccharides and oligosaccharides by tandem mass spectrometry, analysis of bile acid metabolites for the detection of bile acid synthetic disorders and urine studies to determine Fabry disease heterozygote status.

Recent relevant publications


The National Referral Laboratory routinely operates from 8am - 6pm, Monday to Friday. We therefore prefer that all specimens 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:

Postal Address

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

Laboratory Head

Scientific Staff

Technical Staff

Administrative officer

Genetic Pathologist

Associated Staff

    Peter Sharp
    Minh-Uyen Trinh


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Last Modified: 20-03-2015 12:05:04

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