NSW Biochemical Genetics Service

Introduction

The NSW Biochemical Genetics Service has been NATA Accredited since May 1987 and provides a comprehensive programme for the diagnosis and biochemical management of patients with inborn errors of metabolism (IEM). We have experience in the diagnosis of more than 180 different disorders and have recorded well over 1000 affected patients. Many are treated with diets that need to continue throughout life. We monitor them regularly, some on a monthly basis.

We work closely with the other statewide services of the NSW Newborn Screening Programme and the clinicians of the NSW Genetic Metabolic Service. In particular we are very much involved in the follow-up of newborns detected via the extended Newborn Screening Programme using tandem mass spectrometry (MS).