NSW Biochemical Genetics Service

Analytical Services

General Information

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

Please note monitoring of patients with amino acid disorders using dried blood spots is performed by NSW Newborn Screening Laboratory.

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 (-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, please contact the laboratory for advice.

We ask that the sample container be labelled with the patient's name, date of birth and date & 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.

Policy on Charging

Hospitals within NSW are currently not charged for any assays of metabolites on patients with proven metabolic disorders. We will charge referring laboratories for investigations on patients who do not have a suspected inherited disorder. Such cases might include plasma methylmalonate for vitamin B12 deficiency or plasma carnitine/acylcarnitines for patients on TPN or medication such as valproate. If such 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 available from the laboratory.

Policy on Clinical Response

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 but 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 our Clinical Geneticist or Biochemical Geneticists must be made.

Request Forms

A request form giving FULL CLINICAL DETAILS and current drug therapy must accompany all requests. 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.

Out of Hours

Contact the switchboard at The Children's Hospital at Westmead (02) 9845.0000. They will page the metabolic physician on call.