Biochemistry Unit is one of the units in the Specialised Diagnostic Centre. It was established during the reorganization of IMR in April 2001. The unit focuses on advancing diagnostic methods for Inborn Errors of Metabolism (IEM) and rare genetic disorders through cutting-edge technologies.
With a commitment to enhancing healthcare outcomes, the Unit offers comprehensive biochemical genetic testing to facilitate early diagnosis and effective treatment. Biochemistry Unit offers comprehensive diagnostic services of biochemical genetics for the diagnosis of diseases of inborn errors of metabolism including neurometabolic diseases with 85 specialised tests including screening, confirmatory testing for patients from Malaysia, Indonesia, and Brunei.
Among the laboratory methods used for screening diseases are high end tandem mass spectrometry (TMS), high-pressure liquid chromatography (HPLC) equipped with various type of detectors, gas chromatography-mass spectrometry (GCMS), high-resolution electrophoresis (HRE), capillary electrophoresis, spectrophotometry, fluorometry, and immunoassay methods. The enzyme assay methods are offered for Lysosomal storage disease and other diseases for disease confirmation.
The Biochemistry Unit will continue to expand the laboratory services in the field of metabolomics to all government hospitals using a wide range of detection methods for accurate metabolic disease identification using novel biomarkers for appropriate treatment including precision medicine and personalized medicine for the parents/family affected for the diagnosis of diseases of inborn errors of metabolism.
Apart, Biochemistry Unit consistently carried out research involving the discovery of new disease biomarkers and the development of new laboratory methods for highly specialised tests to support clinical services in Malaysia.
In addition to its research functions, Biochemistry Unit serves as a national referral laboratory for government and private hospitals in Malaysia and neighbouring countries. Biochemistry Unit provides comprehensive biochemical genetics tests, including enzyme assays, hormone level evaluations, biomarkers, and metabolites analyses, which are integral to inborn errors of metabolism (IEM) and rare genetic disorders detection, diagnosis, and monitoring. Biochemistry Unit is accredited by Malaysian Standard ISO15189:2022.
Biochemistry Unit, led by Dr Azzah Hana Abu Yamin
