PHM5011 – Precision Diagnostics

Course Overview

This course will cover areas of adult, pediatric, prenatal and pre-implantation genetic testing and cancer diagnostics.

Learning Outcomes

By the end of the course, the student will:

  • Know How classical cytogenetics and DNA diagnostics are performed.
  • Know How targeted testing is performed for common adult and pediatric monogenic disorders.
  • Know How to identify novel genes involved in genetic disorders of unknown etiology.
  • Know How prenatal and pre-implantation genetic screening and testing are performed.
  • Know How common cancers are diagnosed molecularly.
  • Know How common infectious diseases are diagnosed molecularly.

Course Outline

  • Cytogenetics and Cytogenomics
  • PCR-based DNA Diagnostics in Adult and Pediatric Disorders
  • Single-Cell Whole Genome Amplification in PCR-based Preimplantation Genetic Testing of Monogenic Disorders (PGT-M)
  • Next-Generation Sequencing (NGS) for Screening of Pediatric and Prenatal Disorders

Course Requirements

Student must have taken the core course Human Genomics in Precision Medicine or any similar modules.

Course Coordinators

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