Release Date: Nov 2018
CC: PC, MK, PBL, SBP
Xiaoyan Ge, PhD
Assistant Director, Mount Sinai Genetic Testing Laboratory, New York, NY; Assistant Professor, Icahn School of Medicine at Mount Sinai Hospital, New York, NY
Carrier screening is performed on an asymptomatic individual to determine whether he/she has a mutation in a gene that is associated with a particular recessive disorder. Carrier screening provides individuals with meaningful information that is useful for reproductive planning. Traditionally, carrier screening is ethnic-based, and is performed for specific conditions. With the rapid decrease in cost of DNA sequencing technology, it is now possible to screen for a large number of recessive conditions simultaneously. This is known as expanded carrier screening.
This webcast will describe the current progress and challenges of using next generation sequencing in carrier screening. Next generation sequencing allows screening for multiple recessive disorders with high fidelity, quick turnaround time, and lower cost.
After attending this session, participants will be able to:
- Define traditional and expanded carrier screening.
- List the current professional guidelines for carrier screening.
- Recognize the utility of next-generation sequencing in carrier screening.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Pathologists’ Assistants, Laboratory Managers, Bench Supervisors, Bench Technologists and Technicians, Students