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Newborn Screening

Phone:9845 3659-
Fax:9845 3800
Location:Diagnostic Services building, level 1

The purpose of newborn screening is to test all newborns for early signs of a number of treatable congenital metabolic disorders. The New South Wales Newborn Screening Programme website describes these disorders and the operation of the Newborn Screening Programme.

The pamphlet "Tests to protect your baby" is essential reading for each mother before her baby has the newborn screening sample taken. It is available in English and in nine other languages.

Newborn screening tests are free. The tests are not compulsory, and parents may refuse the test on behalf of their baby, but this could unnecessarily risk the baby's health.

Each year the Newborn Screening Programme tests 100,000 babies and detects about 100 who need urgent assessment and treatment.

The disorders we screen for are:

  • phenylketonuria
  • congenital hypothyroidism
  • cystic fibrosis
  • galactosaemia
  • selected aminoacidopathies
  • selected organic acidaemias
  • fatty acid oxidation defects.

The services offered by the laboratory are:

  • testing of blood samples from apparently healthy babies for congenital disorders and ensuring that babies detected by the screening tests receive appropriate investigation and management by the attending physicians
  • an advisory service for the further investigation and management of babies detected by screening tests
  • monitoring the progress of babies detected by screening, when required
  • services to interstate and overseas screening laboratories.

How to make an appointment:

Via Outpatient appointments for the PKU / Metabolic Clinic on 9845 2525.


  • Dr Bridget Wilcken, Clinical Director
  • Dr Veronica Wiley, Principal Scientist/ Department Head
  • Zena (Rosie) Junek, Clinical Nurse Consultant

Related Services and Clinics

Last updated: Wednesday, 13 May 2009

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