Course

Unit 1

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)

Unit 2

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).

Unit 3

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.

Unit 4

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.

Unit 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

Course Outcome

• Understand the molecular diagnostic aspects, its significance and goal
• Understand the technology behind the various molecular techniques used in the
• clinical diagnostic laboratory for the diagnosis of various pathogenic situations
• Develop awareness of sample types, preparation, and storage for molecular
• diagnostic
• Understand the Quality assurance that needs to be followed in the molecular
• diagnostic lab
• Develop awareness of ethical issues related to genetic testing

• Molecular Diagnostics: For the Clinical Laboratorian. William B. Coleman (Editor), Gregory J. Tsongalis (Editor) Publisher: Springer-Verlag New York, LLC.
• Buckingham and Flaw’s, “Molecular Diagnostics: Fundamentals, Methods and Clinical
• Applications”, F.A. Davis Company; First edition, 2007