Laboratory services

Our service plays a number of important roles in the screening of infants and the education of health professionals.

  • Our laboratory tests blood samples from babies born in NSW and ACT for congenital metabolic disorders and ensures that babies detected by the screening tests receive appropriate investigation and management by the attending physicians.
  • We provide an advisory service for the further investigation and management of babies detected by screening tests. This is further outlined in some of the fact sheets.
  • We monitor the progress of babies, children and adults detected with metabolic disorders.
  • We provide services to interstate and overseas screening laboratories.
  • Staff training is a high priority. The senior laboratory staff engages in training programmes for professionals from other screening programmes in various SE Asian countries.

Results and resample requests

As a routine, all primary results are available at midday, 24 hours after receipt of sample. Results requiring urgent follow-up are telephoned, e-mailed and/or facsimiled to the clinician nominated by the hospital of birth as responsible for the baby.

Only when babies require a further investigation due to abnormal or unsuitable samples is an individual hard copy report sent to the collection source. Otherwise, every two weeks a 'Confirmation Report' is sent to each hospital of birth to indicate babies from whom samples have been received. This report also indicates those requiring re-samples.

If re-samples are not received within two weeks, a repeat request letter is sent.

Records and data collection

The service is computerised. A record of blood spot samples received is stored on computer from 1989. From 1993, all sample details and results are stored. All results before 1993 need to be obtained by manual search of hard copy files.

Hard copies of all written reports are kept on file for a minimum of 2 years. Inborn Error Registers are kept on computer and in hard copy.