SPECIALISED DIAGNOSTIC CENTRE

Molecular Diagnostics Unit

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Molecular Diagnostics Unit

The Molecular Diagnostics Unit serves as a reference centre for specialised molecular genetic diagnostic services to confirm inherited metabolic disorders, mitochondrial diseases, genetic syndromes, neurogenetic disorders, and other genetic conditions. It conducts advanced research and development (R&D) in high-tech genetic diseases, provides various training programs in molecular diagnostics for researchers, officers, and students from local and international institutions, and offers consultancy services in molecular diagnostics to researchers, officers, and students from both within and outside IMR.

Executive Summary

Head of Molecular Diagnostics Unit

Mrs. Nor Azimah Binti Abdul Azize

BSc Biochemistry (UKM, Malaysia), MSc Molecular Medicine (UKM, Malaysia)

Google Scholar | ResearchGate

Telephone: +603-2616 2708

Email: azimahazize@moh.gov.my

Mrs. Nor Azimah Binti Abdul Azize
Mrs. Nor Azimah Binti Abdul Azize

Human Resource Profile

01

Medical Officer

04

Research Officers

03

Science Officers

07

Support Staffs

Focus Area

Discovery, Investigation and Diagnostics, Treatment and Management, Prevention, Prediction

Scope: Rare genetic diseases

Highlights

  • Identification of biomarkers

  • Test method development, evaluation and validation

  • Metabolomics - Test method development, evaluation and validation

  • Population-based screening and epidemiology

  • Bioinformatics

Functions

Molecular Diagnostics

Expert in providing consultation, data analysis and interpretation, technical troubleshooting and advisory support to ensure high-quality outcomes in molecular genetics diagnosis and management.

Area of Expertise

  • PCR and gel electrophoresis

  • RFLP

  • Long-range PCR

  • Fragment Analysis

  • X chromosome-inactivation Analysis

  • Microsatellite Analysis

  • Trinucleotide Repeats Analysis

  • Sanger Sequencing

  • Whole Exome Sequencing

Molecular Diagnostics Research

Expert guidance on allergy research methodology, study design, and protocol development.

Area of Expertise

  • Identification of gene deletion and duplication using MLPA kit or qPCR

  • Identification of pathogenic variants by sequencing

Bioinformatics and Data Analysis

Expertise in analysis of genomic and proteomics datasets to identify disease-causing variants, pathways, and potential therapeutic targets

Area of Expertise

  • Bioinformatics tools (Franklin, VarSome, wANNOVAR, AnnotSV, VEP)

  • Computational genomics analysis software (GeneMarker, GeneMapper, Coffalyser, SeqScape, Mutation Surveyor, Emedgene, AI-Marrvel)

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