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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.

Specialty services include:

  • Predictive testing and DNA diagnostic testing for neurologic conditions such as Huntington disease
  • Carrier testing for conditions such as cystic fibrosis, Tay-Sachs disease and thalassaemia
  • Management of conditions such as muscular dystrophy, bone dysplasias, and connective tissue disorders
  • Risk assessment for conditions with a genetic component such as cancer

Some centres may specialise in the provision of services to diagnose and manage a particular condition, a group of conditions, or a syndrome. For example, services may be provided for those affected by conditions and syndromes concerning the eye, muscles, bones, or connective tissue.

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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.

What does the GOLD service offer?

  • A comprehensive clinical genetic service to those families within NSW with fragile X syndrome or other forms of X-linked intellectual disability
  • Co-ordination of genetic testing for affected males
  • Testing other family members if the specific gene alteration responsible for intellectual disability within the family is known
  • Provision of current information on XLMR conditions to families, health professionals and the community
  • Provision of information and counselling regarding reproductive choices
  • Provision of information regarding community resources and support groups
  • Participation in research studies to identify the causes of XLMR
  • Annual newsletter

Newcastle 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

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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.

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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.

Some areas that specialty services provide for include:

  • Blood conditions eg. thalassaemia
  • Cancer eg. breast, colon, melanoma
  • Connective tissue disorders eg. Marfan syndrome
  • Dental eg. ectodermal dysplasia
  • Developmental disabilities eg. fragile X syndrome
  • Eye conditions eg. retinoblastoma
  • Metabolic conditions eg. enzyme deficiencies
  • Muscle conditions eg muscular dystrophy
  • Neurogenetic eg. Huntington disease, neurofibromatosis
  • Skeletal dysplasias eg. short stature conditions


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What Specialty Services are available in My State/Territory?

Select the area below to view registers of congenital conditions in Australia

New South Wales - The NSW Register of Congenital Conditions

North Sydney

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

New South Wales - Medications in Pregnancy and Lactation Service


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

Mothersafe (website)


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

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South Australia - Birth Defects Register

North Adelaide

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

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Victoria - Birth Defects Register


Victorian Perinatal Data Collection Unit
GPO Box 4003, Melbourne, VIC 3001
Ph: (03) 9096 2695 or 1300 858 505
Fax: (03) 9096 2700

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

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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Last updated: Mar 05, 2015