Playing the Long Game: At ACMG, Firms Tout Long-Read Offerings for Rare Disease Testing
Playing the Long Game: At ACMG, Firms Tout Long-Read Offerings for Rare Disease Testing
At the 2026 ACMG Annual Meeting, several genetic testing companies promoted long-read sequencing technology to improve rare disease diagnoses by detecting DNA changes that standard tests can miss. While the technology shows promise, most labs are using it as an add-on or alongside existing tests.