[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-455288-105":59,"doc-detail-455288-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","diagnostic-yield-of-clinical-exome-sequencing-in-patients-with-suspected-hereditary-neuropathy-research-article","Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy - Research Article","","Hereditary neuropathies show substantial genetic heterogeneity, which often makes molecular diagnosis difficult when relying on standard testing. This study evaluates the diagnostic utility of clinical exome sequencing (CES) in 21 patients with clinically suspected hereditary neuropathy. CES variants were processed using Illumina NextSeq 2000 data, followed by bioinformatics and ACMG-guided classification. Pathogenic or likely pathogenic variants were found in 33.3% of cases, with molecularly confirmed diagnoses in 28.5%.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/diagnostic-yield-of-clinical-exome-sequencing-in-patients-with-suspected-hereditary-neuropathy-research-article/455288/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/diagnostic-yield-of-clinical-exome-sequencing-in-patients-with-suspected-hereditary-neuropathy-research-article/455288.png","ImageObject",300,407,{"name":92,"@type":93},"nayy☆","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-04","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":29},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"How many patients were included and what test was performed?","Question",{"text":112,"@type":113},"The study included 21 patients with clinically suspected hereditary neuropathy who underwent clinical exome sequencing (CES). Peripheral blood DNA was analyzed using an Illumina NextSeq 2000 system.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What proportion of patients had pathogenic or likely pathogenic variants?",{"text":117,"@type":113},"Pathogenic or likely pathogenic variants were identified in seven patients (33.3%). Six of these (28.5%) had a confirmed molecular diagnosis consistent with the clinical phenotype.",{"name":119,"@type":110,"acceptedAnswer":120},"What were the main limitations highlighted by the results?",{"text":121,"@type":113},"Variants of uncertain significance (VUS) were detected in 42.8% of patients, limiting interpretation. The authors emphasize the need for functional validation and familial segregation analyses.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},455288,1791068004,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":29,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":34,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962090893153,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","Turkish Journal of Medical Sciences  \n\n| Volume 55  Number 6 | Article 14 |\n| --- | --- |\n| 12-12-2025\u003Cbr>Diagnostic yield of clinical exome sequencing in\u003Cbr>suspected hereditary neuropathy CAN EBRU BEKİRCAN-KURT\u003Cbr>DORUK ARSLAN\u003Cbr>NAZ GÜLERAY\u003Cbr>SEVİM ERDEM-ÖZDAMAR\u003Cbr>BURCU BALCI-HAYTA\u003Cbr>See next page for additional authors\u003Cbr>Follow this and additional works at: [https://journals.tubitak.gov.tr/medical](https://journals.tubitak.gov.tr/medical)\u003Cbr> Part of the Medical Sciences Commons | patients with |\n\nRecommended Citation  \nBEKİRCAN-KURT, C, ARSLAN, D, GÜLERAY, N, ERDEM-ÖZDAMAR, S, BALCI-HAYTA, B, & TAN, E (2025) . Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy. Turkish Journal of Medical Sciences 55 (6): 1475-1479 . [https://doi.org/10.55730/1300-0144.6105](https://doi.org/10.55730/1300-0144.6105)  \nThis work is licensed under a Creative Commons Attribution 4.0 International License.  \nThis Research Article is brought to you for free and open access by TÜBİTAK Academic Journals. It has been accepted for inclusion in Turkish Journal of Medical Sciences by an authorized editor of TÜBİTAK Academic Journals. For more information, please contact [academic.publications@tubitak.gov.tr](academic.publications@tubitak.gov.tr)  \nDiagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy  \nAuthors  \nCAN EBRU BEKİRCAN-KURT, DORUK ARSLAN, NAZ GÜLERAY, SEVİM ERDEM-ÖZDAMAR, BURCU BALCIHAYTA, and ERSİN TAN  \nThis research article is available in Turkish Journal of Medical Sciences: [https://journals.tubitak.gov.tr/medical/](https://journals.tubitak.gov.tr/medical/)[ ](https://journals.tubitak.gov.tr/medical/)vol55/iss6/14  \n\n| \u003Cbr>| Turkish Journal of Medical Sciences [http://journals.tubitak.gov.tr/medical/](http://journals.tubitak.gov.tr/medical/)\u003Cbr>\u003Cbr>Research Article | Turk J Med Sci\u003Cbr>(2025) 55: 1475-1479 © TÜBİTAK\u003Cbr>doi:10.55730/1300-0144.6105 |\n| --- | --- | --- |\n\nDiagnostic yield of clinical exome sequencing in patients with suspected hereditary  \nneuropathy  \nCan Ebru BEKİRCAN-KURT1,*,†􀁋, DorukARSLAN1,2,†􀁋, Naz GÜLERAY3􀁋, Sevim ERDEM-ÖZDAMAR1􀁋,  \nBurcu BALCI-HAYTA4􀁋, Ersin TAN1􀁋  \n1  \nDepartment of Neurology, School of Medicine, Hacettepe University, Ankara, Turkiye  \n2  \nDepartment of Neurology, Sincan Research and Training Hospital, Ankara, Turkiye 3  \nDepartment of Medical Genetics, School of Medicine, Hacettepe University, Ankara, Turkiye  \n4  \nDepartment of Medical Biology, School of Medicine, Hacettepe University, Ankara, Turkiye  \nReceived: 06.08.2025  Accepted/Published Online: 19.10.2025  Final Version: 12.12.2025  \nBackground/aim: Hereditary neuropathies exhibit significant genetic heterogeneities, often making molecular diagnosis challenging. Clinical Exome Sequencing (CES) allows the simultaneous evaluation of a wide range of candidate genes, and can be considered an efficient approach to identifying underlying genetic causes. The present study assesses the diagnostic utility of CES in patients with clinically suspected hereditary neuropathy.  \nMaterials and methods: Included in the study were 21 patients with clinically suspected hereditary neuropathy who underwent CES. DNA samples were isolated from peripheral blood and subjected to CES on an Illumina NextSeq 2000 system, while a bioinformatics analysis and variant interpretation were performed using Sophia DDM® software. All identified variants were classified according to the most recent American College of Medical Genetics and Genomics (ACMG) guidelines.  \nResults: Pathogenic or likely pathogenic variants were identified in seven patients (33.3%), of whom six (28.5%) had a confirmed molecular diagnosis consistent with the clinical phenotype. Variants of uncertain significance (VUS) were detected in nine patients (42.8%), while no clinically relevant variants were found in five (23.8%) .  \nConclusion: CES contributed significantly to the establishment of molecular diagnoses in","cbCaibs6MeYYTukb","https://ap.wps.com/l/cbCaibs6MeYYTukb","pdf",282639,"English","# Background/aim\n# Materials and methods\n# Results\n# Conclusion\n# Key words\n# Introduction","[{\"question\":\"How many patients were included and what test was performed?\",\"answer\":\"The study included 21 patients with clinically suspected hereditary neuropathy who underwent clinical exome sequencing (CES). Peripheral blood DNA was analyzed using an Illumina NextSeq 2000 system.\"},{\"question\":\"What proportion of patients had pathogenic or likely pathogenic variants?\",\"answer\":\"Pathogenic or likely pathogenic variants were identified in seven patients (33.3%). Six of these (28.5%) had a confirmed molecular diagnosis consistent with the clinical phenotype.\"},{\"question\":\"What were the main limitations highlighted by the results?\",\"answer\":\"Variants of uncertain significance (VUS) were detected in 42.8% of patients, limiting interpretation. The authors emphasize the need for functional validation and familial segregation analyses.\"}]","Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy - Research Article | PDF",1790742544,18]