Biochemical Genetics Service

The NSW Biochemical Genetics Service is one of the clinical arms of the Western Sydney Genetics Program (WSGP) based at The Children’s Hospital at Westmead.

We are a multidisciplinary statewide service that provides diagnostic and biochemical monitoring for children and adolescents with Inborn Errors of Metabolism (IEM). We are closely integrated with the other laboratory arms of the WSGP, particularly the Newborn Screening service and the Genetic Metabolic Disorders Service.

See more about their research on their page on the Kids Research website.

Contact details

Hours of service: 8:30am to 5:00pm Monday to Friday.

  • General enquiries: 7825 3122
  • Biochemical Geneticist: 7825 3122
  • After hours: 7825 0000 (staff will page the Metabolic Physician on-call)


If you have any feedback on our services, suggestions for improvements or complaints, please contact the Biochemical Geneticist.

We have been NATA accredited since 1987 providing a comprehensive program for the diagnosis and biochemical monitoring of individuals with IEM. We have experience in the diagnosis of more than 190 different disorders and have recorded over 2000 affected patients. We are a specialist laboratory, the only one of its type in NSW.

We provide:

  • A wide range of investigations — if appropriate tests are unavailable we will forward samples to other laboratories within Australia or overseas
  • New tests — each new test is added to our website, as it becomes available
  • A prenatal diagnostic service — we will arrange the transport of chorion villus or amniotic fluid to international centres when the analysis is not available locally
  • An advisory service — to clinicians and other laboratories about the investigation of suspected IEMs in sick babies, children and adults
  • Long-term storage — of tissues and cultured cells from families with proven or suspected IEM.

We promote:

  • Quality assurance schemes for biochemical genetics laboratories and networking with our colleagues
  • Teaching and training of health professionals including medical, scientific, and nursing staff both locally and in the Asia Pacific region.

Analytical services

A detailed list of the tests provided in-house, the sample type and the method used are shown in the tests available page. Please call us if what you require is not on the list and we will be able to advise where the service may be obtained.

Particular Requirements and Labelling

Urine, CSF and plasma should be transported to us either at room temperature within 30 minutes of collection or on dry ice (-70°C to -80°C). Unfrozen specimens may show "abnormalities" due to chemical, biochemical or bacterial action. If your laboratory has problems transporting to us on dry ice, contact our laboratory for advice. Please label the sample container with the patient's name, date of birth and date, and time of collection. Bar codes are not a suitable substitute for this written information.

Important information about specimens required for Emergency Metabolic Tests and Serum is available in the sample requirements page.

Clinical response policy

We respond to clinical need and manage our work lists accordingly. To enable this we need either adequate clinical notes or a telephone consultation. In some cases, the clinical information or initial results obtained may indicate the need for other, additional appropriate tests to be performed. We reserve the right to arrange for follow-up testing.

All significantly abnormal results are communicated immediately by telephone to the requesting physician by our clinical geneticist or one of our senior scientists.

Urgent same day testing

Certain tests are available urgently. If this is required, direct contact with the on-call Genetic Metabolic Consultant or Biochemical Geneticists must be made.


All requests for testing should be referred from a GP or a specialist, and have a request form attached.

The request form should have full clinical details and current drug therapy. This information may lead to an alternative and fruitful line of investigation. For NSW samples, appropriate tests are carried out regardless of whether these were requested or not. For out-of-state samples, we will discuss with the sender about any recommended extra tests.

Fee policy

Hospitals within NSW are charged at the Medicare rate for the amino acid quantitation component of urine metabolic screens (item # 66756) but are currently not charged for any other assays of metabolites on patients with proven or suspected metabolic disorders. We charge referring laboratories for investigations on patients who do not have a suspected inherited disorder. Such cases might include plasma carnitine/acylcarnitines for patients on TPN or medication such as valproate. 

Please note we no longer offer a service for plasma methylmalonate for investigation of vitamin B12 deficiency. Nutritional testing (only for IEM monitoring) requests must have a referral from a GP or specialist.

If charges are to be referred back to the patient, we require the referring laboratory to inform the patient of the cost and to indicate on the request form that financial consent to perform the test was obtained. Pro forma consent forms are available from the laboratory on request.

We charge for all out of state work on a cost recovery basis. Current prices are shown in the test list.

Last updated Friday 2nd February 2024