Clinical Molecular Diagnostics Course

Lesson 1 • Nucleic Acid Structure and Function

DNA and RNA structure, base pairing, and replication are examined. This foundation supports understanding of all downstream amplification and detection methods.

Lesson 2 • Cell Biology for Diagnostics

Cellular compartments and nucleic acid localisation are reviewed. Students connect organelle function to specimen collection and nucleic acid yield.

Lesson 3 • Genetics and Genomics Essentials

Mendelian inheritance, mutations, and genomic variation are introduced. These concepts underpin interpretation of genetic and infectious disease test results.

Lesson 4 • Enzymes in Molecular Biology

Key enzymes used in molecular assays are described with their mechanisms. Students recognise how enzyme properties determine assay design choices.

Lesson 1 • Automated Extraction Platforms

Automated liquid-handling systems for nucleic acid extraction are compared. Students operate platforms and recognise workflow integration benefits in high-volume laboratories.

Lesson 2 • Nucleic Acid Quantification and Quality Assessment

Spectrophotometric, fluorometric, and electrophoretic methods for assessing nucleic acid purity and yield are covered. Quality metrics guide decisions on proceeding with downstream assays.

Lesson 3 • Specimen Types and Collection Standards

Appropriate specimen types for molecular assays are identified along with collection requirements. Proper collection directly prevents pre-analytical errors that compromise results.

Lesson 4 • Principles of Nucleic Acid Extraction

Chemical and physical principles of cell lysis and nucleic acid purification are explained. Students select extraction methods based on specimen type and downstream assay needs.

Lesson 1 • Polymerase Chain Reaction Fundamentals

PCR thermocycling steps, primer design, and reaction components are examined in detail. Mastery of PCR mechanics is prerequisite to all advanced amplification methods.

Lesson 2 • Reverse Transcription PCR

Conversion of RNA to cDNA and subsequent amplification are detailed for RNA target detection. Students apply RT-PCR to respiratory virus and gene expression diagnostics.

Lesson 3 • Multiplex PCR and Panel Design

Simultaneous amplification of multiple targets in a single reaction is addressed. Students balance primer compatibility, sensitivity, and clinical utility in panel construction.

Lesson 4 • Isothermal Amplification Methods

LAMP, NASBA, and SDA are presented as alternatives to thermocycling-based amplification. Students evaluate isothermal methods for point-of-care and resource-limited settings.

Lesson 1 • Microarray-Based Genotyping

DNA microarray platforms for simultaneous genotyping of thousands of variants are introduced. Students evaluate array data for pathogen typing and pharmacogenomic panels.

Lesson 2 • Hybridisation-Based Detection

Probe hybridisation principles and formats including Southern blot and line probe assays are covered. Students apply hybridisation methods to pathogen identification and resistance detection.

Lesson 3 • Sanger Sequencing for Clinical Use

Dideoxy chain-termination sequencing and capillary electrophoresis are explained for variant identification. Students interpret electropherograms and identify clinically significant mutations.

Lesson 4 • Melting Curve and High-Resolution Analysis

Post-PCR melting curve analysis for genotyping and mutation scanning is detailed. Students distinguish wild-type from mutant alleles using melting temperature profiles.

Lesson 1 • Targeted Enrichment Strategies

Amplicon-based and hybrid capture enrichment methods for focused sequencing are compared. Students design panels targeting clinically actionable genes or pathogen genomes.

Lesson 2 • Sequencing Platforms and Chemistries

Illumina, Ion Torrent, and long-read platforms are compared by chemistry, read length, and error profile. Students select platforms based on clinical application requirements.

Lesson 3 • NGS Library Preparation

DNA fragmentation, end repair, adapter ligation, and amplification steps for NGS library construction are detailed. Library quality directly determines sequencing depth and data reliability.

Lesson 4 • Clinical NGS Result Interpretation

Variant classification frameworks and reporting standards for clinical NGS are applied. Students distinguish pathogenic from benign variants using evidence-based classification criteria.

Lesson 1 • Antimicrobial Resistance Genotyping

Molecular detection of resistance genes and mutations is taught for rapid clinical decision support. Students identify MRSA, carbapenemase, and antiviral resistance markers.

Lesson 2 • Bacterial Pathogen Detection

PCR and sequencing methods for direct bacterial detection and identification from clinical specimens are covered. Students apply molecular methods where culture is slow or impractical.

Lesson 3 • Viral Load and Genotyping Assays

Quantitative viral load testing and genotyping for HIV, HCV, HBV, and CMV are detailed. Students use viral load data to guide antiviral therapy and monitor treatment response.

Lesson 4 • Respiratory Pathogen Panels

Syndromic multiplex panels for respiratory viruses and atypical bacteria are examined. Students interpret panel results in the context of clinical presentation and epidemiology.

Lesson 1 • Microsatellite Instability and MMR Testing

PCR-based MSI testing and IHC correlation for mismatch repair deficiency are detailed. Students apply MSI status to immunotherapy eligibility and Lynch syndrome screening.

Lesson 2 • Gene Fusion and Translocation Detection

FISH, RT-PCR, and NGS methods for detecting chromosomal translocations and gene fusions are taught. Students identify clinically actionable fusions in hematologic and solid tumors.

Lesson 3 • Somatic Mutation Analysis

Detection of somatic mutations in oncogenes and tumour suppressors using PCR and NGS is covered. Students link specific mutations to targeted therapy eligibility and prognosis.

Lesson 4 • Hematologic Malignancy Molecular Testing

Molecular markers for leukaemia, lymphoma, and myeloma diagnosis and monitoring are covered. Students apply clonality assays and MRD testing to hematologic disease management.

Lesson 1 • Contamination Prevention and Control

Sources of amplicon and specimen contamination in molecular labs are identified with prevention strategies. Students design physical and procedural controls to eliminate false-positive results.

Lesson 2 • Proficiency Testing and External QA

External proficiency testing programmes and their role in laboratory accreditation are explained. Students enrol in PT programmes, analyse results, and implement corrective actions.

Lesson 3 • Quality Control Design and Monitoring

Internal QC materials, Levey-Jennings charts, and Westgard rules are applied to molecular assay monitoring. Students detect and respond to QC failures before patient results are released.

Lesson 4 • Regulatory Compliance and Accreditation

Laboratory accreditation standards, personnel qualifications, and documentation requirements for molecular labs are reviewed. Students prepare for inspection readiness and maintain compliance records.