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We analysed the relationship between clinical manifestation and genotype, and compared different genetic testing methods\u2019 detection rates and prices.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In this study, 30.12% (100\/332) of children diagnosed with SRNS had monogenic causes of the disease. With 33.7% (122\/332) of children achieving complete remission, 88.5% (108\/122) received steroids combined with tacrolimus (TAC). In detectability, WES increased by 8.69% (4\/46) on gene panel testing, while WGS increased by 4.27% (5\/117) on WES, and WES was approximately 1\/7 of the price of WGS for every further 1% increase in pathogenicity.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We verified that steroids combined with TAC were the most effective option in paediatric SRNS. In detection efficiency, we found that WGS was the highest, followed by WES. The panel was the lowest, but the most cost-effective method when considering the economic-benefit ratio, and thus it should be recommended first in SRNS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13052-024-01655-4","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T18:02:07Z","timestamp":1713895327000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome"],"prefix":"10.1186","volume":"50","author":[{"given":"Xueting","family":"Cheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anshuo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaofu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuelan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baohui","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,23]]},"reference":[{"issue":"4","key":"1655_CR1","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.pop.2020.08.002","volume":"47","author":"SA Politano","year":"2020","unstructured":"Politano SA, Colbert GB, Hamiduzzaman N. 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All methods were performed in accordance with the ethical standards as laid down in the Declaration of Helsinki and its later amendments or comparable ethical standards. This is a clinical retrospective study that does not pose unnecessary risks to patients. This study has been approved by the Ethics Committee to waive informed consent with the promise not to disclose the private information of the children.","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":"All authors have no conflicts of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interests"}}],"article-number":"85"}}