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 Human Genetics Society of Australasia (HGSA) and click on DNA testing 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 HGSA.

Victorian Clinical Genetics Services
Gene tests Website (US Site for Genetic Tests)
European Directory of DNA Diagnostic Laboratories (EDDNAL)
Euro Gene Test (Genetic Testing in Europe)

Professional Societies:
Human Genetics Society of Australia
Genetics Society of AustralAsia
Genetics Professional Societies Worldwide listing
International Federation of Human Genetics Societies
European Society of Human Genetics (ESHG)
American Society of Human Genetics

Support Groups and Syndrome Specific Links:

CHARGE Syndrome
CHARGE Syndrome Association Australia
CHARGE Syndrome Association USA
CHARGE Syndrome information page (US National Library of Medicine – Genetics Home Reference)
CHARGE Syndrome – a guide to assessment and diagnosis
CHARGE Syndrome information page (NORD:  National Organisation for Rare Diseases)

Down Syndrome
Down Syndrome Association of Victoria (DSAV)
New Zealand Down Syndrome Association
National Down Syndrome Society
Down Syndrome Association (UK)
UK Down Syndrome Medical Interest Group (DSMIG)

Gene and Genetic Disorders
Information to come

Growth Disorders
MAGIC Foundation – growth disorder support group

Kallman Syndrome
Information to come

Klinefelter Syndrome
American Association for Klinefelter Syndrome Information and Support (USA)
Klinefelter Support Group (USA)
KS & A (USA) – Knowledge, Support and Action on Klinefelter Syndrome
Hormones and Me Booklet Series – Klinefelter Syndrome
UNIQUE:  Understanding Rare Chromosome and Gene Disorders
XXYY Project

Leukodystrophy – Australian Leukodystrophy Support Group Inc (ALDS)

Noonan Syndrome
Noonan Syndrome Management Guidelines (2011)
Growth Charts

Prader Willi
Prader Willi Association of Australia
Prader Willi Association of New Zealand

Turner Syndrome
Turner Syndrome Association of Australia
Turner Syndrome Society of USA
Turner Syndrome Management Guidelines (APEG 2003)
Hormones and Me Booklet Series – Turner Syndrome
TSSG UK (Turners Syndrome Support Society)
Turner Syndrome (explain hormones information website)
Clinical Practice Guidelines for the care of girls and women with Turner Syndrome (2016) – Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
Fertility preservation from ASRM

Other Support Groups
The Association of Genetic Support of Australia Inc
Genetic Support Network Victoria
Support Network Victoria (GSNV) support group directory
Genetic Alliance (USA) – alliance of genetic support groups
Gene and Genetic Disorders
New Zealand Society for Rare Disorders
Supporting Aussie Kids with Kabuki Syndrome
UNIQUE Rare Chromosome Disorders Support Group
Aussie Hands Foundation – support for children & adults with hand differences
BDF Newlife – Birth defects charity United Kingdom

Other resources and links:
Centre for Genetics Education (Sydney)
Victorian Clinical Genetics Services
Genetests (USA site – a publicly funded medical genetics information resource)
On-line Mendelian Inheritance in Man (OMIM)
Genetics Professional Societies Worldwide listing
Hormones and Me Booklet Series – Congenital Adrenal Hyperplasia (CAH)
Newborn Screening Labs Kids Health
European Society of Human Genetics – ESHG
ORPHANET Journal of Diseases
PharmGKB: This site contains extensive information about the relationships among drugs, diseases and genes
National Organisation for Rare Diseases (NORD) USA
US National Library of Medicine – Genetics Home Reference


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.