PHM5011 - Precision Diagnostics - Department of Biochemistry – School of Medicine, National University of Singapore | Department of Biochemistry – School of Medicine, National University of Singapore

PHM5011 – Precision Diagnostics

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

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.

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

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