Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Hearing loss (HL) is a common sensorineural defect. Wide-spread genetic screening is important for early diagnosis and intervention. We aimed to evaluate and compare the clinical performance of the MeltPro HL assay and a targeted next-generation sequencing assay for genetic screening of HL and to explore the relationship between the c.109G > A genotype and the HL phenotype. From December 2021 to December 2022, we recruited 220 patients who agreed to undergo the MeltPro HL and targeted next-generation sequencing assays for genetic HL screening. In our cohort, the degree of HL was mainly mild to moderate (78.64%, 173/220). In the MeltPro HL and targeted next-generation sequencing genetic screening assays, 34 patients (34/220, 15.45%) and 145 patients (145/220, 65.91%), respectively, were genetic positive for variants in HL-related genes. GJB2 and SLC26A4 were the two most common HL-causing genes detected among our cohorts of outpatients in Xiamen. The most prevalent variants of GJB2 and SLC26A4 were c.109G > A and c.919-2 A > G, with allelic frequencies of 52.95% (233/440) and 2.50% (11/440), respectively. In addition, a biallelic c.109G > A variant was identified in 115 (79.31%, 115/145) patients, and 93.91% (108/115) of them had mild-to-moderate HL. Our data showed that the MeltPro HL assay is an easy-to-use, satisfactory, and cost-effective genetic screening method for routine use in most laboratories, especially in remote areas of China. It has great potential to improve the diagnosis and prevention of HL in Xiamen when variant c.109G > A is included.