| Course Name | Molecular Diagnostics |
| Course Code | 25CLG502 |
| Program | M. Sc. Clinical Genomics |
| Semester | 1 |
| Credits | 3 |
| Campus | Kochi |
(Lectures 6)
Introduction: An Historical Perspective on the Clinical Diagnostic Laboratory. Molecular
Techniques for diagnosis – Methods for extracting nucleic acids (DNA & RNA); Methods for Nucleic Acid Amplification: PCR, Modifications of PCR (Multiplex-PCR, SSP-PCR, Nested PCR, Reverse transcriptase PCR [RT-PCR], Realtime PCR)
(Lectures 6)
Methods for mutation detection: PCR-RFLP, DNA Sequencing, Reverse Hybridization Assay, Multiplex ligation-dependent probe amplification [MLPA], Allele specific PCR; NGS Applications, Global review of NGS platforms, Clinical NGS in practice. Other Clinical Diagnostic Technologies: Flow Cytometry, Fluorescence In Situ Hybridization, Immunohistochemistry, Laser Capture Microdissection (FFPE).
(Lectures 6)
Quality Assurance in the Molecular Diagnostics Laboratory: Framework for Quality Assurance in Molecular Diagnostics, Verification of Molecular Assays, Standards and Standardization of Molecular Diagnostics, Laboratory-Developed Tests in Molecular Diagnostics.
(Lectures 7)
Applications of Molecular Diagnostics for Genetic Diseases, Molecular diagnostics of
Coagulation, Cystic Fibrosis; Prenatal Genotyping for Identification of Fetuses at Risk for Immune CytopenicDisorders. Applications of Molecular Diagnostics for Human Cancers. Applications of Molecular Diagnostics for Infectious Diseases, Identity-Based Testing: HLA Typing Using Molecular Methods. Molecular Analysis for Forensic Casework and Parentage Testing, Molecular Assessment of Bone Marrow Transplant Engraftment. Personalized Medicine.
(Lectures 5)
Genetic Counseling Considerations in Molecular Diagnosis, Ethical, Social, and Legal Issues Related to Molecular Genetic Testing.
Pre-requisites: Basic understanding of biology and biotechnology
Total number of classes: 30
Preamble
This course will provide an overview of the principles of molecular diagnostics, the use of various molecular techniques to diagnose disease, quality assurance in the molecular lab and DNA based identity testing.
Course Outcome
CO1 Understand the molecular diagnostic aspects, its significance and goal
CO2 Understand the technology behind the various molecular techniques used in the
clinical diagnostic laboratory for the diagnosis of various pathogenic situations
CO3 Develop awareness of sample types, preparation, and storage for molecular
diagnostic tests.
CO4 Understand the Quality assurance that needs to be followed in the molecular
diagnostic lab
CO5 Develop awareness of ethical issues related to genetic testing
PO1: Bioscience Knowledge
PO2: Problem Analysis
PO3: Design/Development of Solutions
PO4: Conduct Investigations of complex problems
PO5: Modern tools usage
PO6: Bioscientist and Society
PO7: Environment and Sustainability
PO8: Ethics
PO9: Individual & Team work
PO10: Communication
PO11: Project management & Finance
PO12: Lifelong learning
CO-PO Mapping Table:
| COs | PO1 | PO2 | PO3 | PO4 | PO5 | PO6 | PO7 | PO8 | PO9 | PO10 | PO11 | PO12 |
| CO1 | 3 | 2 | – | – | 2 | 3 | – | – | – | 1 | – | 2 |
| CO2 | 3 | 3 | 2 | 2 | 3 | 3 | – | – | 1 | 2 | – | 2 |
| CO3 | 2 | 2 | – | 2 | 2 | 3 | 2 | – | – | 1 | – | 1 |
| CO4 | 2 | 2 | – | 3 | 3 | 3 | 2 | 2 | – | 1 | – | 2 |
| CO5 | 2 | – | – | – | – | 2 | – | 3 | – | 1 | – | 2 |
Program Specific Outcomes (PSO):
PSO1. Apply fundamental molecular biology principles to interpret clinical genomic data.
PSO2. Use molecular techniques (e.g., PCR, RT-PCR, sequencing) to detect genetic mutations and biomarkers.
PSO3. Analyze genotype-phenotype correlations in inherited and acquired disorders.
PSO4. Identify pathogenic variants from NGS data and interpret their clinical relevance.
PSO5. Correlate molecular pathways with disease mechanisms and therapeutic targets.
PSO6. Develop and validate diagnostic assays based on molecular biology principles.
PSO7. Utilize molecular biology to support pharmacogenomic profiling and therapy optimization.
PSO8. Integrate multi-omic data (genomic, transcriptomic, epigenomic) for personalized health solutions.
PSO9. Apply molecular knowledge to cancer genomics, infectious diseases, and rare genetic disorders.
PSO10. Translate molecular discoveries into clinical interventions through evidence-based practice.
CO-PSO Mapping Table:
| COs | PSO1 | PSO2 | PSO3 | PSO4 | PSO5 | PSO6 | PSO7 | PSO8 | PSO9 | PSO10 |
| CO1 | 3 | 2 | 1 | – | – | – | – | – | 1 | 2 |
| CO2 | 3 | 3 | 2 | 2 | 1 | 3 | 2 | – | 2 | 3 |
| CO3 | 2 | 2 | 2 | – | 2 | 3 | 1 | – | 1 | 2 |
| CO4 | 2 | 2 | – | – | 2 | 3 | – | – | – | 2 |
| CO5 | 1 | – | – | – | – | – | – | 2 | – | 2 |
Evaluation Pattern: 50+50 = 100
| Internal Assessment – 50% | ||
| Periodical 1 | Exam | 20% |
| Periodical 2 | Exam | 20% |
| Continuous Assessment | Assignment/Test/Quiz | 10% |
| 50% | ||
| End Semester Examination- 50% | ||
| Theory Exam | 50% | |
| 50% | ||
| Total | 100% | |
Textbooks
Molecular Diagnostics: For the Clinical Laboratorian. William B. Coleman (Editor), Gregory J. Tsongalis (Editor) Publisher: Springer-Verlag New York, LLC.
References
Buckingham and Flaw’s, “Molecular Diagnostics: Fundamentals, Methods and Clinical Applications”, F.A. Davis Company; First edition, 2007.
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