Newborn screening tests are tests performed in newborns for early detection of genetic diseases and metabolic disorders. Therefore, we can provide timely treatment for babies in order to prevent physical and mental disorders, lower the infant mortality rate and reduce the burden on the family and society. Genetic disorders are mostly caused by genetic mutations in Exome. Next-generation sequencing technology can quickly identify these mutations by using whole exome sequencing technique.

The course “APPLICATION OF NGS - ILLUMINA IN NEWBORN SCREENING FOR GENETIC DISEASES (WHOLE EXOME SEQUENCING)” was developed to equip students with the latest technological solutions in diagnosis of genetic diseases based on gene sequencing technology. Especially, this technology incorporates bioinformatics software for processing, analyzing and identifying changes in DNA sequences that may cause genetic variation. After the course, students will be fully capable of applying this technology in newborn screening tests.

• Team-based learning: encourage critical thinking, creativity, and proactive learning through group discussions, and group presentations
• On-the-job training: Students observe and practice alongside the lecturer
• Teaching equipment: A 300 m2 Lab with modern equipment from many well-known manufacturers around the world

• Comprehend the history of newborn diagnosis and screening for genetic diseases
• List the newborn screening methods as well as the advantages and disadvantages of each method
• Comprehend the principles of the next-generation sequencing technology applied in newborn screening for genetic diseases
• Comprehend the procedure for whole-exome sequencing (WES) on NextSeq 500/NextSeq Dx system
• Perform the library preparation for WES on the NextSeq 500/NextSeq Dx system
• Proficient in reading and analyzing test results on bioinformatics software: BaseSpace Sequence Hub, Variant Interpreter 
• Comprehend causes and solutions to common errors during the process

• Overview of whole-exome sequencing (WES) and its application in newborn screening for genetic diseases
• Overview of some next generation gene sequencing methods as well as advantages and disadvantages of each method
• The principles of the next-generation gene sequencing technique on Illumina's NextSeq 550/NextSeq Dx system
• Perform library preparation for WES on NextSeq 550/NextSeq Dx system
• Issues regarding the library quality and solutions
• Introduction to bioinformatics software for analyzing results
• Analyze results using BaseSpace Sequence Hub software, Variant Interpreter on sequenced samples
• Course summary. Q&A. Certificate awarding ceremony

• Course Code: SK - 01
• Subjects: Doctors, bachelors or engineers specialized in testing in healthcare facilities; bachelors of Biology, Biotechnology, Chemistry 
• Training time: 05 days (8 lessons/day) 
• Number of students: 12 - 16 students per class 
• Course opening: Open every month upon the number of applications 
• Registration package:

- 01 Application form of Phacogen Institute of Technology HERE

- 01 notarized copy of university or college diploma  

- 01 notarized copy of identity card or citizen identification