Skip to main content

Table 1 The sensitivity of the multiplex PCR amplicon sequencing assay

From: A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

Gene Nucleotide variant Homozygous Heterozygous Homoplasmy Heteroplasmy Total Sensitivity (%)
GJB2 c.235delC 0 43 43 100
SLC26A4 c.919-2A>G 0 20 20 100
GJB2 c.109G>A 1 13 14 100
SLC26A4 c.1229C>T 0 9 9 100
GJB2 c.299_300delAT 0 9 9 100
MT-RNR1 m.1555A>G 4 1 5 100
SLC26A4 c.1707 + 5G>A 0 1 1 100
Total 1 95 4 1 101 100