Objectives of Molecular Diagnostics and Protein Unit

Objectives

(i) Reference laboratory and centre of excellence for specialised diagnostics services:

a. Reference laboratory for Multiple Myeloma and Paraproteinemias

1. Serum/urine protein electrophoresis screening
2. Confirmatory test by electro-immunofixation
3. Quantitation of specific protein related to Multiple Myeloma

b. Centre of excellence for Inborn Error of Metabolism (IEM)/Genetic Diseases Proteomics Profiling

1. Congenital Disorder of Glycosylation (CDG) phenotyping
2. Alpha-1-Antitrypsin (A1AT) Deficiency phenotyping

c. Centre of excellence for Molecular Diagnostics for Genetic Disorders and Inborn Error of Metabolism (IEM) including Mitochondrial Disorders:

1. Autosomal Dominant/ Autosomal Resessive
2. X-linked Disease/Imprinting Defect
3. Mental Retardation: Fragile-X syndrome
4. Mitochondrial Disorders

(ii) Research & development in new specialized diagnostics testing.

(iii) Basic research in proteomics and genomics in both focus areas.

(iv) Evaluation of new diagnostics kits

(v) Training in specialized diagnostics

Core Bussiness

(i) Provision of specialized diagnostics services:

A) Multiple Myeloma and Paraproteinemias Protein Profiling

B) Inborn Error of Metabolism (IEM)/Genetic Diseases Proteomics Profiling

1. Congenital Disorder of Glycosylation (CDG) phenotyping
2. Alpha-1-Antitrypsin (A1AT) Deficiency phenotyping

C) Molecular Diagnostics for Genetic Disorders and Inborn Error of Metabolism (IEM) including Mitochondrial Disorders:

1. Autosomal Dominant/ Autosomal Resessive
2. X-linked Disease/Imprinting Defect
3. Mental Retardation: Fragile-X syndrome
4. Mitochondrial Disorders

(ii) Updating and enhancing the diagnostics service capability through research and development (R&D) in state-of-the-art and high technology specialized diagnostics testing

(iii) Basic research in proteomics and genomics in the two main focus areas.