Biochemistry Unit is one of the units in the Specialised Diagnostic Centre. It was established during the reorganization of IMR in April 2001. The main aim is setting up new diagnostic methods especially for Inborn Error of metabolism, in response to the continuing progress in medicine.
It is our task to strengthen and increase the diagnostic capabilities in terms of the range and number of diagnostic tests, and to achieve shorter response time by using state of the art technology.
The Unit started to setting up methods for diagnosis of IEM during 8th Malaysian plan whereby fully automated ion-exchange amino acids analyser was purchased for quantitation of amino acids in body fluids. Gas Chromatography Mass Spectrometry (GCMS) was purchased for analysis of urine organic acids.
The Unit also purchased Tandem Mass Spectrometry for rapid and high throughput screening of amino acids and organic acid disorders and fatty acids oxidation defects. Over more than 30 disorders can be screened simultaneously using dried blood spot from neonate in just 2 minutes. This will enable the Unit to provide fast and reliable method for detection of IEM which is crucial for early diagnosis and prompt treatment of IEM. The Unit also vigourously develop other important biochemical genetic testing which are still not available in Malaysia as requested by the clinicians and pediatricians.
To date, after 9 years of being established, the Unit is the only laboratory in Malaysia which provides comprehensive biochemical genetics testing for the screening and diagnosis of inborn errors of metabolism (IEM). The service is open to all hospitals be they government, private or those overseas. To date, the Unit offers more than 25 screening and confirmatory diagnostic tests for this group of diseases.