Genetic Testing

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
Genetic Counselling

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
Pre Pregnancy Genetics