
Clinical Biochemistry
The Division of Clinical Biochemistry is known as a reference paediatric clinical biochemistry laboratory offering comprehensive and specialized laboratory services and technical/scientific expertise worldwide. The laboratory has considerable expertise in dealing with small sample volumes and relevant analytical methods suitable for the analysis of paediatric specimens.
Division Head
Metabolic Diseases
The Metabolic Diseases Laboratory is dedicated to service, education and research in the diagnosis and treatment of inborn errors of metabolism. The majority of these disorders present in childhood and patients are often initially diagnosed with some other condition.
We are certified as a Tay-Sachs screening centre (NTSAD) and participate in ERNDIM and CDC international quality assurance programs. We offer prenatal diagnosis of certain conditions.
Laboratory personnel have a high level of technical and interpretive skills and are equipped to handle a broad spectrum of disorders with emphasis on:
- Amino acidurias
- Organic acidurias
- Glycogen storage and fatty acid oxidation disorders
- Lysosomal storage diseases
Mitochondrial
The Mitochondrial Laboratory offers a wide range of mitochondrial functional enzyme tests that aid in diagnosis and monitoring of children with mitochondrial genetic diseases. These functional assays are unique as they assess the functional impact of specific mitochondrial genetic mutations and their potential consequences in disease presentation and clinical outcome.
Paediatric Reference Interval Database (CALIPER)
The CALIPER project is aimed at developing paediatric reference intervals that can be used to identify abnormal test results in children with medical concerns. This will enable physicians to more accurately and efficiently diagnose and treat children.
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