Molecular diagnosis of hereditary deafness and application of stepwise testing strategy.

Abstract excerpt

Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic methods include gene chip, Sanger sequencing, targeted enrichment sequencing, and whole-exome sequencing, with diagnosis rates reaching 33.5%-56.67%. However, there are still a considerable number of patients who can not get a timely and definitive...

Topics

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• Deafness
• Exome
• Genetic Testing
• High-Throughput Nucleotide Sequencing
• Mutation