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Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>From 2018\u20132020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including <jats:italic>GJB2\/SLC26A4<\/jats:italic> multiplex amplicon sequencing, <jats:italic>STRC\/OTOA<\/jats:italic> copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53\/80) and the likely diagnosis yield was 8% (6\/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11\/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01293-x","type":"journal-article","created":{"date-parts":[[2022,6,27]],"date-time":"2022-06-27T09:03:12Z","timestamp":1656320592000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss"],"prefix":"10.1186","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9338-5525","authenticated-orcid":false,"given":"Jiale","family":"Xiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nana","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiankun","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangzhong","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-750X","authenticated-orcid":false,"given":"Zhiyu","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1771-3715","authenticated-orcid":false,"given":"Yu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,27]]},"reference":[{"issue":"6","key":"1293_CR1","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1542\/pir.30.6.207","volume":"30","author":"KA Gifford","year":"2009","unstructured":"Gifford KA, Holmes MG, Bernstein HH. 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All patients, parents or legal guardians signed an informed consent for sample collection. All methods were carried out in accordance with relevant guidelines and regulations.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not Applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Nana Song, Jiankun Shen, Xiangzhong Sun, and Zhiyu Peng were employed at BGI at the time of submission. The other authors declare no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"142"}}