Brisbane Genetics services includes, diagnosis, evaluation, counselling, and management for genetic and congenital conditions.
The Clinical Geneticist is able to guide your clinical, prevention and treatment choices.
Clinical Genetics
- Diagnosis of chromosomal abnormalities
- Congenital malformations
- Intellectual impairment and development delay
- Dysmorphic syndromes
- Connective tissue disorders
- Skeletal dysplasias
- Inherited neurological disorders (e.g. Huntington Disease, Muscular Dystrophy)
- Diagnosis and multi-system clinical assessment
- Molecular genetic testing
Cancer Genetics
- BRCA1 or BRCA2 gene testing for breast cancer
- Lynch syndrome with bowel and other cancers
- Rare cancer syndromes such as Von Lippel Lindau syndrome or Li Fraumeni syndrome
- Pancreatic
- Melanoma
Cardiac Genetics
- Inherited cardiomyopathies
- Congenital heart disease associated with syndromes
- Marfan syndrome
- Molecular testing and risk assessment for family members
Prenatal and Paediatric Genetics
- A child with serious congenital health problems
- A family history of intellectual impairment
- Abnormal results from a prenatal test
- A family history of vision or hearing impairment
- An abnormality in a gene found in a close family member
- In vitro fertilisation and preimplantation genetic screening
