Screening for Tay ‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

ConclusionsOur results suggest that performance of an NGS ‐based TSD carrier screen that interrogates the entire coding region and employs novel variant interpretation exceeds that of Hex A enzyme testing, warranting a reconsideration of existing guidelines.

Source: Molecular Genetics & Genomic Medicine - July 9, 2019 Category: Genetics & Stem Cells Authors: Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid Tags: ORIGINAL ARTICLE Source Type: research