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DNA testing
Trends
- 13billion says it cracked FSHD diagnosis with long-read sequencing●Unlocking the “Unmappable” D4Z4 Repeat: How 3billion Mastered FSHD Diagnosis with Long-Read Sequencing
Genetic testing company 3billion announced it has mastered diagnosis of facioscapulohumeral muscular dystrophy (FSHD) by sequencing the D4Z4 repeat, a region long considered unmappable with standard short-read methods. The company says long-read sequencing now allows reliable analysis of this repetitive DNA segment, potentially improving diagnosis for patients who previously went undetected. Details on clinical validation remain limited.