Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Alana C CecchiElizabeth S VengoecheaKristjan E KaseniitMelanie W HardyLaura A KigerNikita MehtaImran S HaqueKrista MoyerPatricia Z PageDale MuzzeyKaren A GrinzaidPublished in: Molecular genetics & genomic medicine (2019)
Our 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.
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