Table 1.
Clinical features of subjects in this study.
Table 2.
Mutation list of Invader based genetic screening test.
Table 3.
Mutation list found by direct sequencing analysis.
Table 4.
Diagnostic efficiency of Invader assay alone and Invader assay and direct sequencing.
Table 5.
Double mutation cases found in simultaneous mutation screening.
Figure 1.
Detection rate by onset/awareness age and severity of hearing loss.
Diagnostic rates and detection rates of this simultaneous multiple mutations screening and direct sequencing for biallelic mutations in autosominal recessive genes or mitochondrial mutations increased when restricted to congenital/early-onset hearing loss, and moderate or severe hearing loss. Combined direct sequence and invader screening enhanced the diagnostic rate but not the mutation detection rate.
Figure 2.
Radiographic findings and detection rate.
Detection rate was elevated when subjects were restricted to those with inner ear anomaly or EVA. Combined direct sequence and invader screening enhanced the diagnostic rate but not the mutation detection rate.