Genetic Services
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Specialty Services

Specialised services for developmental disability, pregnancy safety, community screening programs and registers -

Click on a service below for more information
Genetics of Learning Disability (GOLD) Service

The GOLD Service provides genetic services to NSW families with fragile X syndrome and families who have two or more male relatives with intellectual disability. The aim is to identify the cause of intellectual disability within these families and provide reliable genetic counselling for all family members.

GOLD Service 
Hunter Genetics
Cnr Turton & Tinonee Rds
Waratah NSW 2298
Mail: PO Box 84, Waratah SW 2298
Ph: (02) 4985 3100 Fax: (02) 4985 3105


More information about the Genetics of Learning Disability (GOLD) Service

Medications in Pregnancy and Lactation Service

Mothersafe is a NSW State-wide service that provides a comprehensive counselling service for women and their healthcare providers concerned about exposures during pregnancy and breastfeeding.

Medications in Pregnancy and Lactation Service
Royal Hospital for Women, High St Randwick, NSW 2031
Ph: (02) 9382 6539 or 1800 647 848

Victoria - Medications in Pregnancy and Lactation Service

Medications in Pregnancy and Lactation Service
Royal Children’s Hospital
Flemington Rd, Parkville, VIC 3052
Ph: (03) 9345 5548 Fax: (03) 9345 4825 

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Community screening for people with Eastern European (Ashkenazi) Jewish ancestry

SEALS Genetics
Prince of Wales Hospital
Level 4 Campus Centre Building
Barker Street
Randwick NSW 2031

Tel: 02 9382 9114
Fax: 02 9382 9157

Registers of congenital conditions

Registers of congenital conditions are population based surveillance systems established to monitor health conditions detected during pregnancy or at birth, or diagnosed in infants up to one year of age. Registers of congenital conditions provide statistical information to assist in epidemiological research, and primary prevention and screening of problems that occur from birth in our society.

The NSW Register of Congenital Conditions

Centre for Epidemiology and Research,
NSW Ministry of Health
1 Reserve Road
St Leonards NSW 2065
Ph: (02) 9391 9000
Fax: (02) 9391 9101

Queensland Birth Defects Register

Perinatal Data Collection
Data Services Unit
Queensland Health
GPO Box 48, Brisbane, QLD 4001
Ph: (07) 3234 1708 Phone: 13 74 68

South Australia Birth Defects Register

Women’s and Children’s Hospital
South Australian Clinical Genetics Service,
72 King William Road, North Adelaide, SA 5006
Ph (08) 8161 7368 Fax: (08) 8161 6049

Tasmania Birth Defects Register

Perinatal Data Collection
Clinical Data Services
GPO Box 125L,
Hobart, TAS 7001
Ph: (03) 6233 3185 Fax: (03) 6233 3550

Victorian Perinatal Data Collection Unit
GPO Box 4003, Melbourne, VIC 3001
Ph: (03) 9096 8595 or 1300 858 505
Fax: (03) 9096 2700
Email: Website

Western Australia Birth Defects Register

King Edward Memorial Hospital
374 Bagot Road Subiaco, WA 6008
Ph: (08) 9340 2735 Fax: (08) 9340 2636
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Cardiac Genetics

Specialised services for people with a family history of heart conditions.

The Australian Genetic Heart Disease Registry maintains a list of Cardiac Genetic Services.

Hereditary Cancer Registry NSW & ACT

The NSW & ACT Hereditary Cancer Registry (HCR) aims to assist people from families with a high risk of hereditary cancer to understand and manage their risk.  People from high-risk families are encouraged to register with the HCR to take advantage of information, screening expertise and a range of services provided by HCR.

Cancer Institute NSW
NSW & ACT Hereditary Cancer Registry
Locked Bag 2011
St Leonards NSW 1590
Phone: 1800 505 644

How Can Specialty Services Be Accessed?

For information regarding the availability of clinics which specialise in diagnosis, management and genetic counselling for the particular conditions or syndromes, it is best to contact your local General Genetics Clinic.


Fact Sheets and Resources

Fact Sheets and Resources


Genomic Testing

About Genomics






Cancer in the family


Intellectual Disability

Intellectual Disability Genomic Testing