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Specialty Services

What are Specialty Services?

Specialty services are services that specialise in the management for people affected by particular genetic conditions and risk assessment for concerned family members. The services are provided in conjunction with clinical genetics centres. These specialty genetics services can provide the essential counselling associated with carrier and presymptomatic genetic testing where it is available.

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 3136 Fax: (02) 4985 3133

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 4825Top of Page

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

Wolper Jewish Hospital provides testing for a range of genetic condition that occur more frequently in individuals of Eastern European (Ashkenazi) Jewish ancestry through two programs:

1.   The High School Genetic Testing Program and

2.   The Community Genetics Program

Wolper Jewish Hospital
8 Trelawney St Woollahra NSW 2025
Ph: (02) 9328 6077 Fax: (02) 9327-5973

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 Health Department
Locked Mail Bag 961, North Sydney, NSW 2061
Ph: (02) 9424 5829
Fax: (02) 9391 9232

Queensland Birth Defects Register

Perinatal Data Collection
Data Services Unit
Queensland Health
GPO Box 48, Brisbane, QLD 4001
Ph: (07) 3234 1708 Fax: (07) 3234 027

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 2695 or 1300 858 505
Fax: (03) 9096 2700

Western Australia Birth Defects Register

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

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 Genetic Counselling service.


Last updated: Sep 03, 2015