Photo Acknowledgement: Craig Jefferies

Syndromes & Genetic Tests

While we aim to keep all lists of links of high quality, the inclusion of a link does not imply that APEG endorses or otherwise approves that site or the information contained therein. Members must make their own judgment about any information that they obtain from any linked site

Genetic Tests:

For genetic tests available in Australia and New Zealand, please visit Royal College of Pathologists of Australasia (RCPA) Genetics Tests & Laboratories.
If you are aware of any endocrine or diabetes related genetic tests available in Australia or New Zealand not on this list please notify both APEG and/or RCPA.

Professional Societies:

Support Groups and Syndrome Specific Links:

For growth charts for various syndromes, click here


If the condition of interest is not listed below, then please visit one or more of the following sites:

AdrenoLeukodystrophy (ALD)
Beckwith-Wiedemann Syndrome
CHARGE Syndrome
Down Syndrome
Growth Disorders
  • For growth related support groups, click here
Kabuki Syndrome
  • Information to come
Kallmann Syndrome
Klinefelter Syndrome
Noonan Syndrome
Prader-Willi Syndrome
Turner Syndrome
Other Support Groups

Other resources and links:


Centre for Genetic Education Resources:

Please see links to a series to educate paediatricians on genomic testing for childhood syndromes, there are the four videos and slides that have been uploaded to the Centre for Genetics Education (CGE) website.

The videos can be accessed here or at on the CGE website.

Please note the videos are best viewed on Google or Google Chrome  – they cannot be viewed on Internet explorer.

They are hoping to track usage and feedback on these materials and the CGE has uploaded a survey for paediatricians to complete.

Resources related to the video content can also be found on the CGE website here.


Last comprehensive update completed on 3 September 2020.