{"id":27328,"date":"2025-06-24T14:55:10","date_gmt":"2025-06-24T12:55:10","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/centogenome-mox-2-0-solo-wgs-whole-genome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/"},"modified":"2026-02-27T18:01:05","modified_gmt":"2026-02-27T16:01:05","slug":"centogenome-mox-2-0-solo-wgs-whole-genome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/centogenome-mox-2-0-solo-wgs-whole-genome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/","title":{"rendered":"CentoGenome Mox 2.0 Solo \u2013 WGS (whole genome sequencing) _ include analiza de secventiere mARN (transcriptom)"},"content":{"rendered":"<p><strong>CentoGenome MOx 2.0 Solo \u2013 WGS<\/strong> (whole genome sequencing) _ include analiza de secven\u021biere mARN (transcriptom) ofer\u0103 o imagine complet\u0103 a genomului uman, incluz\u00e2nd regiunile codante \u0219i necodante ale ADN-ului, variantele structurale complexe \u0219i modific\u0103rile de expresie genic\u0103.<\/p>\n<\/p>\n<p> Prin integrarea informa\u021biilor ob\u021binute din secven\u021bierea ADN-ului (genomic\u0103) cu cele din analiza ARNm (transcriptomic\u0103), testul permite o interpretare func\u021bional\u0103 a variantelor identificate \u0219i eviden\u021biaz\u0103 anomalii de splicing \u2014 procese prin care secven\u021bele de ARN sunt decupate \u0219i reasamblate pentru formarea ARN-ului matur.<\/p>\n<\/p>\n<p> Aceast\u0103 abordare ofer\u0103 un nivel superior de acurate\u021be diagnostic\u0103, fiind capabil\u0103 s\u0103 eviden\u021bieze modific\u0103ri genetice care nu pot fi detectate prin exom (WES), panouri \u021bintite sau microarray.<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<p>Testul este indicat \u00een investiga\u021bia cauzelor genetice pentru:<\/p>\n<\/p>\n<ul>\n<li>tulbur\u0103ri de dezvoltare \u0219i dizabilit\u0103\u021bi intelectuale<\/li>\n<li>afec\u021biuni neurologice (epilepsii, ataxii, neuropatii, tulbur\u0103ri de spectru autist)<\/li>\n<li>boli metabolice ereditare<\/li>\n<li>tulbur\u0103ri cardiace, hematologice, imunologice sau endocrine de cauz\u0103 genetic\u0103<\/li>\n<li>boli rare cu fenotip complex sau atipic<\/li>\n<li>cazuri f\u0103r\u0103 diagnostic dup\u0103 test\u0103ri genetice anterioare (panouri, WES, microarray)<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">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 la care testele genetice anterioare nu au oferit un diagnostic clar<\/li>\n<li>nou-n\u0103scu\u021bilor \u0219i copiilor cu tulbur\u0103ri de dezvoltare<\/li>\n<li>adul\u021bilor cu boli cu debut tardiv, de cauz\u0103 genetic\u0103 suspectat\u0103<\/li>\n<li>familiilor care doresc confirmarea unei cauze genetice ereditare pentru un fenotip recurent<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere complet\u0103 a genomului (Whole Genome Sequencing) \u2013 acoper\u0103 \u00eentregul ADN uman, incluz\u00e2nd regiunile codante \u0219i necodante, regiuni reglatoare \u0219i intronice<\/li>\n<li>analiz\u0103 bioinformatic\u0103 complex\u0103 pentru detectarea tuturor tipurilor de varia\u021bii genetice: SNV, INDEL, CNV, rearanjamente structurale \u0219i varia\u021bii complexe<\/li>\n<li>analiz\u0103 transcriptomic\u0103 (ARNm) \u2013 pentru evaluarea expresiei genice \u0219i identificarea efectelor func\u021bionale ale muta\u021biilor, inclusiv erori de splicing<\/li>\n<li>corelare fenotipic\u0103 \u0219i interpretare clinic\u0103<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>cea mai complet\u0103 analiz\u0103 genetic\u0103 disponibil\u0103 clinic, acoperind \u00eentregul genom<\/li>\n<li>posibilitatea de a identifica variante rare, intronice sau de reglare, nedetectabile prin alte metode<\/li>\n<li>integrarea informa\u021biei transcriptomice pentru eviden\u021bierea efectelor func\u021bionale ale variantelor (ex. modific\u0103ri de expresie, splicing anormal)<\/li>\n<li>cre\u0219te semnificativ rata de diagnostic pentru pacien\u021bii cu boli rare<\/li>\n<li>permite o interpretare personalizat\u0103 \u0219i actualizabil\u0103 \u00een timp<\/li>\n<li>sprijin\u0103 consilierea genetic\u0103 \u0219i planificarea familial\u0103 informat\u0103<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>unele variante pot fi raportate ca VUS (variant\u0103 cu semnifica\u021bie incert\u0103) p\u00e2n\u0103 la actualizarea datelor de literatur\u0103<\/li>\n<li>testul nu detecteaz\u0103 modific\u0103ri epigenetice sau muta\u021bii dinamice de tip triplet repeat<\/li>\n<li>analiza transcriptomic\u0103 necesit\u0103 probe de calitate \u00eenalt\u0103 (ARN integru)<\/li>\n<li>necesit\u0103 prescrip\u021bie medical\u0103 \u0219i consiliere genetic\u0103 pre- \u0219i post-testare<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge integral (EDTA) \u2013 recomandat pentru analiz\u0103 complet\u0103 ADN + ARNm<\/li>\n<li>transportul probelor se face \u00een condi\u021bii controlate<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>CentoXome MOx 2.0 Solo (WES + ARNm) \u2013 alternativ\u0103 pentru o analiz\u0103 focalizat\u0103 pe exom<\/li>\n<li>panel testare NGS \u2013 analiz\u0103 integrativ\u0103 fenotip-genotip pentru cazuri complexe<\/li>\n<li>ArrayCGH \u2013 pentru corelarea cu anomalii cromozomiale la nivel macrostructural<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>CentoGenome MOx 2.0 Solo \u2013 WGS<\/strong> (whole genome sequencing) _ include analiza de secven\u021biere mARN (transcriptom) este cea mai avansat\u0103 analiz\u0103 genomic\u0103, bazat\u0103 pe secven\u021bierea \u00eentregului genom (WGS) \u0219i completat\u0103 cu analiza transcriptomic\u0103 (ARNm). Testul permite identificarea cauzelor genetice ale bolilor rare \u0219i complexe prin analiza at\u00e2t a ADN-ului, c\u00e2t \u0219i a expresiei genice (modul \u00een care genele sunt activate sau inhibate).<\/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-27328","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":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27328","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27328"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27328"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27328"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27328"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}