{"id":27705,"date":"2025-06-24T15:50:01","date_gmt":"2025-06-24T13:50:01","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/wes-bioexome\/"},"modified":"2026-02-27T18:03:34","modified_gmt":"2026-02-27T16:03:34","slug":"wes-bioexome","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/wes-bioexome\/","title":{"rendered":"WES &#8211; Bioexome"},"content":{"rendered":"<p><strong>WES Bioexome <\/strong>analizeaz\u0103 toate genele codante din genomul uman (exomul), oferind o imagine detaliat\u0103 a varia\u021biilor genetice patogene, probabil patogene sau cu semnifica\u021bie <strong>incert\u0103<\/strong>.<\/p>\n<\/p>\n<p>Testul permite:<\/p>\n<\/p>\n<ul>\n<li>identificarea muta\u021biilor punctiforme (SNV), inser\u021biilor\/dele\u021biilor (INDEL) \u0219i variantelor rare<\/li>\n<li>evaluarea cauzelor genetice pentru afec\u021biuni complexe \u0219i fenotipuri neexplicate<\/li>\n<li>corelarea datelor genetice cu caracteristicile clinice ale pacientului pentru o interpretare precis\u0103<\/li>\n<\/ul>\n<p>Secven\u021bierea exomului este completat\u0103 de analiza bioinformatic\u0103 avansat\u0103, care prioritizeaz\u0103 variantele relevante clinic, folosind baze de date interna\u021bionale \u0219i algoritmi de predic\u021bie a efectelor func\u021bionale.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<p>WES Bioexome este indicat \u00een investigarea cauzelor genetice pentru:<\/p>\n<\/p>\n<ul>\n<li>tulbur\u0103ri neurologice \u0219i de neurodezvoltare (epilepsii, ataxii, tulbur\u0103ri de spectru autist)<\/li>\n<li>tulbur\u0103ri metabolice ereditare<\/li>\n<li>boli hematologice, cardiace, imunologice sau endocrine cu suspiciune genetic\u0103<\/li>\n<li>malforma\u021bii congenitale sau fenotipuri complexe<\/li>\n<li>cazuri f\u0103r\u0103 diagnostic dup\u0103 test\u0103ri genetice anterioare (paneluri, microarray)<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor cu suspiciune de boal\u0103 genetic\u0103 rar\u0103 sau complex\u0103<\/li>\n<li>pacien\u021bilor f\u0103r\u0103 diagnostic clar dup\u0103 test\u0103ri genetice anterioare<\/li>\n<li>copiilor cu tulbur\u0103ri de dezvoltare sau malforma\u021bii<\/li>\n<li>adul\u021bilor cu boli cu debut tardiv, suspectate a fi de cauz\u0103 genetic\u0103<\/li>\n<li>familiilor care doresc identificarea unei cauze genetice pentru fenotip recurent<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021bierea exomului complet (WES) \u2013 acoper\u0103 toate regiunile codante (exoni) ale genomului<\/li>\n<li>analiz\u0103 bioinformatic\u0103 complex\u0103 \u2013 identific\u0103 variante genetice SNV, INDEL \u0219i variante rare<\/li>\n<li>corelare fenotip-genotip \u2013 interpretarea variantelor \u00een contextul clinic al pacientului<\/li>\n<li>raportare clinico-genetic\u0103 \u2013 eviden\u021biaz\u0103 variante patogene, probabil patogene \u0219i VUS (variant\u0103 cu semnifica\u021bie incert\u0103)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>identificarea cauzelor genetice pentru boli rare \u0219i complexe<\/li>\n<li>detectarea muta\u021biilor codante care nu pot fi vizualizate prin paneluri genice sau microarray<\/li>\n<li>cre\u0219terea ratei de diagnostic pentru pacien\u021bi cu fenotip neexplicat<\/li>\n<li>suport pentru consiliere genetic\u0103 \u0219i planificare familial\u0103<\/li>\n<li>interpretare personalizat\u0103 \u0219i actualizabil\u0103 \u00een timp, pe baza literaturii \u0219i a bazelor de date interna\u021bionale<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>variantele pot fi raportate ca VUS (variant\u0103 cu semnifica\u021bie incert\u0103) p\u00e2n\u0103 la actualizarea datelor<\/li>\n<li>testul nu detecteaz\u0103 modific\u0103ri epigenetice sau muta\u021bii \u00een regiuni necodante (introni, regiuni regulatorii)<\/li>\n<li>necesit\u0103 probe de ADN de calitate superioar\u0103<\/li>\n<li>prescrip\u021bie\/recomandare medical\u0103 \u0219i consiliere genetic\u0103 pre- \u0219i post-testare obligatorie<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103 \u0219i condi\u021bii pentru recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge integral (EDTA) \u2013 standard pentru testul WES<\/li>\n<li>alternativ: ADN extras, conform cerin\u021belor laboratorului<\/li>\n<li>recoltarea \u0219i transportul se fac conform instruc\u021biunilor laboratorului pentru men\u021binerea integrit\u0103\u021bii probei<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>ArrayCGH \u2013 pentru corelarea cu anomalii cromozomiale mari<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>WES Bioexome<\/strong> este un test avansat de secven\u021biere a exomului complet (Whole Exome Sequencing \u2013 WES), destinat identific\u0103rii cauzelor genetice ale bolilor rare \u0219i complexe. Analiza permite detectarea variantelor genetice care afecteaz\u0103 regiunile codante ale genomului, responsabile pentru majoritatea bolilor monogenice cunoscute.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,2876,3236],"product_tag":[],"class_list":["post-27705","product","type-product","status-publish","product_cat-analize","product_cat-serviciu-laborator","product_cat-wes-wgs","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.8 - aioseo.com -->\n\t<meta name=\"description\" content=\"WES Bioexome este un test avansat de secven\u021biere a exomului complet (Whole Exome Sequencing \u2013 WES), destinat identific\u0103rii cauzelor genetice ale bolilor rare \u0219i complexe. 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