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Biochemical Genetics

Phone:9845 3122
Fax:9845 3121
Location:Diagnostic Services building, level 1

The NSW Biochemical Genetics Service provides a comprehensive clinical and laboratory service for all paediatric and adult patients in New South Wales and the Australian Capital Territory 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.The service includes:

  • detailed interpretation of analytical results, and selection of, and advice on appropriate follow-up testing
  • a monitoring service for patients with inborn errors of metabolism
  • provision or facilitation of prenatal diagnosis of inborn errors of metabolism in high-risk pregnancies
  • the education of biochemists, physicians and trainees in the field of inborn errors of metabolism.The service maintains a close liaison with the Hospital's genetic metabolic clinical service.Full information on Biochemical Genetics Test Availability and Sample Requirements may be found in the Services section of the Professionals area of the Hospital's website.

How to make an appointment:

Via outpatient appointments for the PKU/Metabolic clinic on 9845 2525.


  • Prof. John Christodoulou, Clinical Director
  • A/Prof Kevin Carpenter, Head of Department

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Last updated: Tuesday, 11 March 2014

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