Introduction to Specialised Diagnostics Centre (SDC)

Laboratory diagnostic support is of great importance for modern clinical medicine. It helps the clinician to make an early and accurate diagnosis of disease state as well as monitoring disease progression and response to treatment intervention.. SDC has been known as the only centre for various complicated and laborious biochemical tests including diagnosis of inherited metabolic disease and protein electrophoresis.

There are certain diagnostic tests that either require an expensive outlay for any centre to start services, or require laborious techniques to demand highly specific expertise, or simply are not so often requested to be economically done by each hospital in the country. There are also other tests that if left undeveloped locally would then demand samples be sent overseas at great cost in terms of time and money.

Because of these, IMR takes the challenge to continually develop and provide the specialized diagnostic tests in line with the technology advancement in medicine.

The Specialised Diagnostic Centre (SDC) was established on 16 April 2001as a result of reorganization of IMR. Presently, the Centre comprises of Biochemistry Unit and Molecular Diagnostic and Protein Unit.

SDC was founded as Biochemistry Division in 1950, to provide routine biochemical tests. Protein electrophoresis, enzymes and hormonal assays were rapidly established to cater for the need of clinicians in the 70's and 80"s.

In the 90's, most of the routine diagnostic tests were decentralised with the rapid growth of peripheral laboratories and automation. Activities were then concentrated mainly on 6 major thrust areas, namely:

• Protein and Molecular Biology;
• Drugs and Clinical Toxicology;
• Inborn Error of Metabolism;
• General Biochemistry testing in support of research
• National external quality assessment scheme (EQAS)

 
In line with IMR core function, SDC is actively conducting research and development activities in the area of its major trusts.

Strategic Plan

SDC combines biochemical and molecular genetics as well as advanced specific protein analysis in utilizing new technologies for laboratory management of genetic diseases including IEM, and specific proteins and paraproteins abnormalities.

SDC pledges to:

a) Continually be a diagnostics R&D Centre where:

1. Hospital laboratory personnel are trained for new technologies.
2. Clinicians meet to expand their options.
3. Diagnostics have pivotal role to support case management.
4. Multinationals form links to benefit Malaysia.

b) Deliver state of the art diagnostic technologies towards better health care and market driven ventures.

c) Strengthen its potential as an income-generating entity.

d) Share a sense of pride with multiple reference centre and strong diagnostics R&D across all disciplines in IMR.

e) Be aligned as a supportive partner to all IMR Research Centre in the diagnostics matrix.

Our strategy is effective when:

1. New methods are continually introduced for early diagnosis and management of IEM, Molecular Genetics as well as Multiple Myeloma.
2. Clinicians utilize our diagnostics services to reduce morbidity and mortality.
3. Reduce fund drain for Malaysia by reducing overseas consultation.
4. The diagnostic services provided are fully utilized by peripheral laboratories as a reference centre.
5. New findings are disseminated through presentations and publications.
6. The diagnostic services provided are being sought by overseas diagnostics services.

Achievements (Refer to each unit for further details)

Reference Centre for Laboratory Diagnosis of IEM:

a) Biochemical genetic testing:

• Amino acids and disorders
• Organic acids disorders
• Carbohydrate disorders
• Peroxisomal diseases
• Lysosomal storage diseases
• Fatty acid oxidation defects
• Neurotransmitters disorders

b) Rapid screening of IEM in dried blood spot by Tandem mass Spectrometry:

• Establishment of reference ranges and cut-off values
• An estimate of prevalence and incidence of IEM in newborn in Malaysia.
• Logistics and feasibility of newborn screening program.

2. Reference Centre for Molecular Genetics

2.1 Mitochondrial Disorders and other mitochondrial-related disorders:

1. Leigh Syndrome
2. MELAS
3. MERRF
4. LHON
5. NARP
6. Pearson Syndrome
7. Whole mtDNA
8. SURF-1

2.2 Fragile-X Syndrome

• Screening of FRAXA and FRAXE
• Confirmation of full mutation.

2.3 Other IEM

i) Urea Cycle Defect

• OTC gene

ii) MSUD

• BCKD α and β gene

iii) Homocystinuria

• CBS gene

iv) Non-ketotic hyperglycinemia

• AMT, GLDC, GCHS genes

v) SUOX Deficiency

• SUOX-1 gene

vi) Ethylmalonic encephalopathy

• ETHE-1 gene

vii) Citrin Deficiency

viii) SOTOS

ix) Prader Willi/Angelman Syndrome

x) Spinal Muscular Atrophy (SMA)

xi) Any other gene disorders on request

3. Reference Laboratory for multiple myeloma and specific proteins

1. Multiple myeloma protein profiling and new protein indicators/markers such as:

1. Oligoclonal Immunoglobulins characterization in Cerebrospinal Fluid by Isoelectrofocussing
2. Determination of Free Light Chains Ratios, a new indicator for Light chain disease in multiple myeloma. This will be an early and more sensitive marker for light chain disease.

2. Multiple Sclerosis

3. Congenital Disorders of Glycosylation (CDG) Syndrome

Transferrin phenotyping (N-glycosylation)

APOc (O-glycosylation)

AIAT Deficiency