ABSTRACT

Basic Information

Abstract Number: 650 - 4
Author Name: Jim Goldberg - Counsyl
Session Title: The Twenty-Eighth James L Waters Symposium on Genomic Analysis Technologies
Event Type: Symposia
Event Title: Application of Next Generation Sequencing to Pan-Ethnic Carrier Screening

Presider Name:Adrian C Michael
Affiliation:The Pittsburgh Conference

Date: Monday, March 6, 2017
Start Time: 02:45 PM (Slot #4)
Location: W183c

Abstract Content

The traditional approach to screening for recessive genetic disorders has involved a limited number of diseases and has been mostly ethnicity based. Recent advances in molecular technology have allowed pan-ethnic screening for a large number of disorders to be performed in a cost effective manner. This presentation will describe the clinical benefits of expanded carrier screening and the impact of next generation sequencing on increasing the detection of at-risk carrier couples.