{"id":13700,"date":"2026-03-27T08:00:00","date_gmt":"2026-03-27T08:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=3aa78df57ccf6f16bc5e54e7061b0be0"},"modified":"2026-03-27T23:00:00","modified_gmt":"2026-03-27T23:00:00","slug":"performance-evaluation-of-a-pcr-nanopore-assay-for-carrier-screening-for-cystic-fibrosis-spinal-muscular-atrophy-and-fragile-x-syndrome","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/27\/performance-evaluation-of-a-pcr-nanopore-assay-for-carrier-screening-for-cystic-fibrosis-spinal-muscular-atrophy-and-fragile-x-syndrome\/","title":{"rendered":"Performance evaluation of a PCR\/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome"},"content":{"rendered":"Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may miss rare variants. Comprehensive sequencing offers broader variant detection across diverse populations. We validated a PCR\/Nanopore-based assay for comprehensive assessment of CFTR, SMN1\/2, and FMR1. Samples included anonymized DNA from: whole blood (archival clinical samples, n = 53), cell lines (n = 19), and residual CAP proficiency testing material (n = 3).","protected":false},"excerpt":{"rendered":"<p>Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may m&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-13700","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13700","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=13700"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13700\/revisions"}],"predecessor-version":[{"id":13973,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13700\/revisions\/13973"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=13700"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=13700"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=13700"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}