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Introduction to Molecular Diagnostics and Protein Unit

. Last Updated: 15 May 2013Hits: 22439


The Unit of Molecular Diagnostics and Protein evolved from the specific protein laboratory which had been part of the Biochemistry Division since its inception in 1980. The Protein Laboratory was developed to be the reference centre for Multiple Myeloma Protein Profiling in Malaysia since 1982. With the reorganization of IMR in year 2000, the Protein Laboratory was upgraded to "Molecular Diagnostics and Protein Unit" under the Specialized Diagnostics Centre and given the responsibility to develop molecular diagnostics in genetic diseases particularly IEM, while maintaining its function as the reference centre for Multiple Myeloma Protein Profiling. Through research and development of new specialized diagnostics tests the unit has expanded its scopes in the two main focus areas.

Molecular genetics diagnostics was initiated with mutational analysis of OTC gene for urea cycle defect in 2000. In 2003 the unit successfully acquired sequencing facilities that initiated the development of molecular genetics studies for mitochondrial disorders such as Leigh syndrome, LHON and other mutation points for MELAS, MERFF and NARP.

In 2006 the unit obtained funding for "Upgrading of Diagnostics Services for Multiple Myeloma and Molecular Diagnostics", that has enabled UMDP to strengthen its functions as:

  1. Reference Laboratory in Multiple Myeloma and Paraproteinemias
  2. Centre of Excellence Molecular Diagnostics for Genetic Diseases including IEM and Mitochondrial Disorders.
  3. Centre of Excellence for CDG phenotyping

Subsequently in 2007, in line with the Ministry of Health Genetic Service Program, UMDP has expanded its scope to be able to do complete mutational analysis of the whole mitochodrial genome of 16.5 kilobases which encodes 13 essential polypeptides of respiratory chain and the 22 tRNAs required for intra-mitochondrial protein synthesis. The unit has also simultaneously developed molecular testing for the screening and confirmation of full-mutation of FRAXA gene expansion in Fragile X syndrome.

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By 2013 the scope of molecular testing has increased tremendously in terms of the number of genes studied as well as the depth of molecular testing being made available for the genetic service in Malaysia. The list of genes mutations requested by the clinical geneticists is growing by the day in tandem with the findings of diseased states as indicated by biochemical parameters and clinical manifestations. Awareness of the importance of the molecular genetic diagnostics service, full support from the government in terms of training and development of human resource, appropriate funding and policy and last but not least full commitment from the staff has made this service a reality.

The scope for expansion of molecular genetics diagnostics is vast and promises a bright future in aspects of research and development for newer molecular testing as more discoveries are being made as well as newer and sophisticated technologies being invented.

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