Specialty Services and Registers
What are Specialty Services?Specialty services include:
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. |
How Can Specialty Services Be Accessed?
Further information about these specialty services can be obtained by contacting your nearest genetic counselling service.
Services such as management for people affected by particular genetic conditions, or risk assessment for concerned family members, 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.
Information regarding the availability of clinics which specialise in diagnosis, management and genetic counselling for the particular conditions or syndromes listed below is available from the local genetic counselling service:
- Blood conditions e.g. thalassaemia
- Cancer e.g. breast, colon, melanoma
- Connective tissue disorders e.g. Marfan syndrome
- Dental e.g. ectodermal dysplasia
- Developmental disabilities e.g. fragile X syndrome
- Eye conditions e.g. retinoblastoma
- Metabolic conditions e.g. enzyme deficiencies
- Muscle conditions e.g muscular dystrophy
- Neurogenetic e.g. Huntington disease, neurofibromatosis
- Skeletal dysplasias e.g. short stature conditions
Genetics of Learning Disability (GOLD) Service
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
New South Wales - Genetics of Learning Disability (GOLD) Service
Newcastle
GOLD Service
Hunter Genetics
Cnr Turton & Tinonee Rds
Waratah NSW 2298
Ph: (02) 4985 3136 Fax: (02) 4985 3133 Email:gold@hnehealth.nsw.gov.au
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.
Select the area below to view registers of congenital conditions in Australia
New South Wales - The NSW Register of Congenital Conditions
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North Sydney |
Centre for Epidemiology and Research, |
Queensland - Birth Defects Register
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Brisbane |
Perinatal Data Collection |
South Australia - Birth Defects Register
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North Adelaide |
Women’s and Children’s Hospital |
Tasmania - Birth Defects Register
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Perinatal Data Collection |
Clinical Data Services |
Victoria - Birth Defects Register
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Melbourne |
Victorian Perinatal Data Collection Unit |
Western Australia - Birth Defects Register
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Subiaco |
King Edward Memorial Hospital |
Select the area below to view Medications in Pregnancy and Lactation Service in Australia
New South Wales - Medications in Pregnancy and Lactation Service
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Randwick |
Mothersafe |
Victoria - Medications in Pregnancy and Lactation Service
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Parkville |
Mothersafe |