An update to the Tay-Sachs Carrier Screening position

This document is a result of the 2019 collaborative input of the NTSAD Scientific Advisory Committee. The purpose of this task force was to create a position statement regarding the use of next-generation sequencing (NGS) of the HEXA gene compared to other technologies for Tay-Sachs carrier screening. Also, the purpose was to update NTSAD’s last position statement, which was completed in August 2009.

A statement on carrier screening for minors from the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG).