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Specialty Services and Registers
What are Specialty Services?
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.
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
Birth Defects Registers
Birth defects registers are population based surveillance systems established to monitor birth defects (or congenital malformations) detected during pregnancy or at birth, or diagnosed in infants up to one year of age. Birth defect registers 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 Birth Defects Registers in Australia
New South Wales | Queensland | South Australia | Tasmania | Victoria | Western Australia
New South Wales - Birth Defects Register
North Sydney |
Centre for Epidemiology and Research, |
Queensland - Birth Defects Register
Brisbane |
Perinatal Data Collection |
South Australia - Birth Defects Register
North Adelaide |
Women’s and Children’s Hospital |
Tasmania - Birth Defects Register
Perinatal Data Collection |
Clinical Data Services |
Victoria - Birth Defects Register
Melbourne |
Victorian Perinatal Data Collection Unit |
Western Australia - Birth Defects Register
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
Randwick |
Mothersafe |
Victoria - Medications in Pregnancy and Lactation Service
Parkville |
Mothersafe |