Biochemical genetics

What is biochemical genetics?

Biochemical genetics is the investigation of the makeup of tissue and blood samples in order to diagnose genetic disorders and inborn errors of metabolism (IEM) in patients.

The NSW Biochemical Genetics Service, located at The Children's Hospital at Westmead, provides a comprehensive clinical and laboratory service for all paediatric and adult patients in NSW and the ACT who require laboratory diagnosis and treatment of a wide range of inherited disorders of intermediary metabolism and transport. These services are also extended to other states in Australia, when requested, and to neighbouring countries. We seek to provide an expertise equal to the highest international standard.

Patient services for genetic disorders

For patient services, see also:

  • Genetics services, which describes the spectrum of genetics testing, counselling and clinical services across the Network
  • Clinical genetics (such as screening, counselling and management of clinical conditions) available at our hospitals
  • Metabolic genetics services and clinics available at our hospitals for children with a metabolic disorders