{"id":26774,"date":"2025-06-24T15:22:18","date_gmt":"2025-06-24T12:22:18","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-panel-ngs-personalizat-101-3000-gene\/"},"modified":"2026-06-22T08:22:00","modified_gmt":"2026-06-22T05:22:00","slug":"testare-panel-ngs-personalizat-101-3000-gene","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-panel-ngs-personalizat-101-3000-gene\/","title":{"rendered":"Testare panel NGS personalizat (101- 3000 gene)"},"content":{"rendered":"<p>Panelul NGS personalizat este o analiz\u0103 genomic\u0103 complex\u0103, conceput\u0103 pentru situa\u021biile \u00een care este necesar\u0103 investigarea unui spectru larg de gene, adaptat strict contextului clinic al pacientului.<\/p>\n<p>Spre deosebire de panelurile standard (oncologice, neurologice, metabolice etc.), acest test permite configurarea unui set extins de gene (\u00eentre 101 \u0219i 3000), selectate de medicul specialist \u0219i validate preanalitic de laborator.<\/p>\n<h3>Analiza utilizeaz\u0103 tehnologia Next Generation Sequencing (NGS), permi\u021b\u00e2nd detectarea:<\/h3>\n<ul>\n<li>variantelor punctiforme (SNV),<\/li>\n<li>inser\u021biilor \u0219i dele\u021biilor (indels),<\/li>\n<li>varia\u021biilor de num\u0103r de copii (CNV \u2013 \u00een func\u021bie de design),<\/li>\n<li>variantelor patogene, probabil patogene sau de semnifica\u021bie incert\u0103 (VUS),<\/li>\n<li>semn\u0103turilor genetice relevante clinic (\u00een func\u021bie de panelul selectat).<\/li>\n<\/ul>\n<h3>Testul este utilizat \u00een medicina de precizie pentru:<\/h3>\n<ul>\n<li>afec\u021biuni genetice complexe,<\/li>\n<li>boli rare,<\/li>\n<li>oncologie personalizat\u0103,<\/li>\n<li>neurologie genetic\u0103,<\/li>\n<li>boli metabolice sau multisistemice,<\/li>\n<li>cazuri diagnostice nerezolvate.<\/li>\n<\/ul>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Suspiciune de boal\u0103 genetic\u0103 complex\u0103 sau rar\u0103<\/li>\n<li>Cazuri clinice nediagnosticate prin paneluri standard<\/li>\n<li>Tumori solide cu necesitate de profilare extins\u0103<\/li>\n<li>Boli neurologice, metabolice sau multisistemice complexe<\/li>\n<li>Evaluare genomic\u0103 extins\u0103 \u00een medicina de precizie<\/li>\n<li>Identificarea mecanismelor genetice rare sau combinate<\/li>\n<li>Investigarea rezisten\u021bei la tratament (oncologie \/ boli cronice)<\/li>\n<li>Necesitatea unei abord\u0103ri genomice personalizate<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Pacien\u021bilor cu diagnostic incert sau complex<\/li>\n<li>Pacien\u021bilor oncologici \u00een stadii avansate<\/li>\n<li>Medicilor geneticieni, oncologi, neurologi, pediatri<\/li>\n<li>Centrelor de medicin\u0103 personalizat\u0103<\/li>\n<li>Pacien\u021bilor cu suspiciune de boli genetice rare<\/li>\n<li>Cazurilor multidisciplinare f\u0103r\u0103 diagnostic clar<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>Extrac\u021bie ADN din <strong>s\u00e2nge periferic (EDTA)<\/strong><\/li>\n<\/ul>\n<h3>Secven\u021biere NGS (Next Generation Sequencing) personalizat\u0103<\/h3>\n<ul>\n<li>Design de panel adaptat clinic (101 \u2013 3000 gene selectate)<\/li>\n<\/ul>\n<h3>Analiz\u0103 bioinformatic\u0103 extins\u0103:<\/h3>\n<ul>\n<li>SNV (muta\u021bii punctiforme)<\/li>\n<li>indels<\/li>\n<li>CNV (dac\u0103 este inclus \u00een design)<\/li>\n<li>Interpretare conform bazelor de date interna\u021bionale<\/li>\n<li>Validare preanalitic\u0103 a listei de gene \u00eenainte de testare de c\u0103tre medicul genetician\/laborator<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Abordare genomic\u0103 complet personalizat\u0103<\/li>\n<li>Permite investigarea simultan\u0103 a unui num\u0103r foarte mare de gene<\/li>\n<li>Cre\u0219te \u0219ansa de identificare a cauzei genetice \u00een cazuri complexe<\/li>\n<li>Optimizeaz\u0103 diagnosticul \u00een boli rare sau atipice<\/li>\n<li>Sprijin\u0103 medicina de precizie \u0219i deciziile terapeutice personalizate<\/li>\n<li>Reduce necesitatea test\u0103rilor multiple secven\u021biale<\/li>\n<li>Permite adaptarea complet\u0103 la fenotipul clinic al pacientului<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>\u00cen func\u021bie de indica\u021bia clinic\u0103<\/h3>\n<ul>\n<li>Panel NGS standard (oncologic \/ neurologic \/ metabolic)<\/li>\n<li>Exom clinic (WES) sau genom complet (WGS)<\/li>\n<li>MLPA pentru rearanjamente genetice<\/li>\n<li>Testare cromozomial\u0103 (cariotip \/ microarray)<\/li>\n<\/ul>\n<h3>\u00cen oncologie<\/h3>\n<ul>\n<li>HRD \/ TMB \/ MSI panels<\/li>\n<li>Panel somatic extins (&gt;500 gene)<\/li>\n<li>Biopsie lichid\u0103 NGS<\/li>\n<\/ul>\n<h3>\u00cen genetic\u0103 general\u0103<\/h3>\n<ul>\n<li>Consiliere genetic\u0103 pre \u0219i post-testare<\/li>\n<li>Testare familial\u0103 \u021bintit\u0103<\/li>\n<li>Screening de purt\u0103tor<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge total EDTA 2&#215;6 ml<\/h3>\n<ul>\n<li>Condi\u021biile de recoltare sunt stabilite individual de laborator<\/li>\n<\/ul>\n<h3>Documente obligatorii<\/h3>\n<ul>\n<li>Recomandare medical\u0103 cu <strong>lista genelor de interes sau suspiciunea clinic\u0103 detaliat\u0103<\/strong><\/li>\n<li>Raport medical complet (istoric, diagnostic, investiga\u021bii anterioare)<\/li>\n<li>Consult genetic preanalitic obligatoriu pentru definirea panelului<\/li>\n<li>Bilet de trimitere \/ indica\u021bie medical\u0103<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Custom NGS gene panel (101\u20133000 genes)<\/li>\n<li>Personalized genomic sequencing panel<\/li>\n<li>Tailored NGS diagnostic panel<\/li>\n<li>Extended gene panel sequencing<\/li>\n<li>Precision medicine custom panel<\/li>\n<li>Large-scale targeted NGS panel<\/li>\n<li>Clinical indication-based gene panel<\/li>\n<li>Bioarray custom gene panel<\/li>\n<li>Multigene personalized sequencing test<\/li>\n<li>Adaptive NGS panel design<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Acest panel NGS personalizat este o analiz\u0103 genomic\u0103 de \u00eenalt\u0103 complexitate, adaptat\u0103 strict suspiciunii clinice \u0219i selectat\u0103 \u00eempreun\u0103 cu medicul curant \u0219i laboratorul. Este esen\u021bial ca lista genelor s\u0103 fie definit\u0103 preanalitic pentru a asigura relevan\u021ba clinic\u0103 \u0219i utilitatea diagnostic\u0103. Rezultatele trebuie interpretate exclusiv \u00een context multidisciplinar, \u00een cadrul consilierii genetice specializate.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 avansat\u0103 de tip <strong>Next Generation Sequencing (NGS)<\/strong>, realizat\u0103 sub forma unui <strong>panel personalizat care include \u00eentre 101 \u0219i 3000 de gene<\/strong>, selectate \u00een func\u021bie de suspiciunea clinic\u0103 \u0219i recomandarea medical\u0103. Testul permite o abordare genomic\u0103 extins\u0103, adaptat\u0103 individual fiec\u0103rui caz.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-26774","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 avansat\u0103 de tip Next Generation Sequencing (NGS), realizat\u0103 sub forma unui panel personalizat care include \u00eentre 101 \u0219i 3000 de gene, selectate \u00een func\u021bie de suspiciunea clinic\u0103 \u0219i recomandarea medical\u0103. 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