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Western Sydney Genetics Program

Phone:(02) 9845 3452
Fax:(02) 9845 1864
Location:Diagnostic Services Building, Level 1

The Western Sydney Genetics Program provides a comprehensive and integrated medical genetics service comprising:

  • NSW Biochemical Genetics
  • NSW Newborn Screening Program
  • Department of Clinical Genetics
  • Department of Cytogenetics
  • Department of Molecular Genetics
  • Genetic Metabolic Diseases
  • Academic Department of Medical Genetics

In addition, the Program provides outreach services to the Greater Murray, Central West and Hunter Health Regions, as well as statewide clinical services for Huntington disease, neurofibromatosis, connective tissue dysplasia, phenylketonuria and other inborn errors of metabolism, and statewide laboratory services for newborn screening and biochemical genetics. Moreover, the Clinical Genetics Department and Genetic Metabolic Diseases Service are involved with other departments of the Hospital in providing joint management clinics for patients with limb deficiencies, connective tissue disorders, neuromuscular disorders and Rett syndrome.Geographic catchment and provision varies according to the specific departments.


  • Prof. John Christodoulou, Director
  • Danielle Pfitzner, Business Manager
  • Kerry Vallely, Personal Assistant
  • Bronwyn Bale, Personal Assistant
See also: Western Sydney Genetics Program

Related Services and Clinics

Last updated: Monday, 31 March 2014

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