{"id":26863,"date":"2025-06-24T14:28:02","date_gmt":"2025-06-24T12:28:02","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/centoxome-mox-2-0-solo-wes-whole-exome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/"},"modified":"2026-02-27T17:54:31","modified_gmt":"2026-02-27T15:54:31","slug":"centoxome-mox-2-0-solo-wes-whole-exome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/centoxome-mox-2-0-solo-wes-whole-exome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/","title":{"rendered":"CentoXome Mox 2.0 Solo &#8211; WES (whole exome sequencing) _ include analiza de secventiere mARN (transcriptom)"},"content":{"rendered":"<p><strong>CentoXome MOx 2.0 Solo<\/strong> reprezint\u0103 o abordare avansat\u0103 de diagnostic genetic ce combin\u0103:<\/p>\n<\/p>\n<ul>\n<li>secven\u021bierea \u00eentregului exom (WES) \u2013 pentru identificarea variantelor patogene, probabil patogene \u0219i a variantelor de semnifica\u021bie incert\u0103 \u00een regiunile codante ale ADN-ului<\/li>\n<li>analiza transcriptomic\u0103 (ARNm) \u2013 pentru evaluarea impactului func\u021bional al variantelor identificate \u0219i pentru identificarea modific\u0103rilor de expresie sau splicing<\/li>\n<\/ul>\n<p>Aceast\u0103 metod\u0103 integrat\u0103 permite o cre\u0219tere semnificativ\u0103 a ratei de detec\u021bie molecular\u0103, \u00een special \u00een cazurile \u00een care testele genetice standard nu au furnizat un diagnostic clar.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<p>Testul este indicat \u00een special pentru:<\/p>\n<\/p>\n<ul>\n<li>boli genetice rare cu etiologie necunoscut\u0103<\/li>\n<li>\u00eent\u00e2rziere global\u0103 \u00een dezvoltare, dizabilit\u0103\u021bi intelectuale, autism<\/li>\n<li>tulbur\u0103ri neuromusculare \u0219i epileptice<\/li>\n<li>boli metabolice ereditare<\/li>\n<li>anomalii congenitale multiple<\/li>\n<li>suspiciuni de boli genetice complexe f\u0103r\u0103 diagnostic anterior concludent<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<p>Testul CentoXome MOx 2.0 Solo se adreseaz\u0103 pacien\u021bilor de orice v\u00e2rst\u0103, pentru care:<\/p>\n<\/p>\n<ul>\n<li>testele genetice \u021bintite (gene panels, CMA etc.) au fost negative sau inconcludente<\/li>\n<li>exist\u0103 suspiciune de boal\u0103 monogenic\u0103<\/li>\n<li>se dore\u0219te o abordare comprehensiv\u0103 pentru identificarea cauzei genetice a fenotipului observat<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>WES (Whole Exome Sequencing): captarea \u0219i secven\u021bierea regiunilor codante (exonice) ale ADN-ului uman, utiliz\u00e2nd tehnologia Illumina NovaSeq<\/li>\n<li>analiz\u0103 transcriptomic\u0103 (mARN): secven\u021bierea ARN-ului extras din leucocite, cu evaluarea expresiei genice \u0219i a evenimentelor de splicing<\/li>\n<li>bioinformatic\u0103 integrat\u0103: corelare \u00eentre ADN \u0219i ARN pentru cre\u0219terea certitudinii diagnosticului<\/li>\n<li>interpretare clinic\u0103 personalizat\u0103 conform ghidurilor ACMG<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>rat\u0103 de diagnostic crescut\u0103 (p\u00e2n\u0103 la 55%) datorit\u0103 integr\u0103rii WES + RNA-seq<\/li>\n<li>clarificarea variantelor de semnifica\u021bie incert\u0103 (VUS) prin corelarea cu expresia genic\u0103<\/li>\n<li>detectarea anomaliilor func\u021bionale nedetectabile prin WES simplu<\/li>\n<li>instrument esen\u021bial pentru consilierea genetic\u0103 \u0219i managementul clinic personalizat<\/li>\n<li>posibilitatea reevalu\u0103rii datelor brute \u00een viitor, pe baza progresului \u0219tiin\u021bific<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>necesit\u0103 proba de s\u00e2nge proasp\u0103t pentru extragerea concomitent\u0103 a ADN \u0219i ARN<\/li>\n<li>nu detecteaz\u0103 anomalii cromozomiale mari (dele\u021bii\/duplica\u021bii &gt;20 kb) sau expansiuni repetate<\/li>\n<li>calitatea probelor influen\u021beaz\u0103 direct succesul analizei ARN<\/li>\n<li>analiza parental\u0103 (trio) este recomandat\u0103 pentru o interpretare optim\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>CentoGenome (Whole Genome Sequencing) \u2013 pentru detec\u021bia variantelor non-codante<\/li>\n<li>Array CGH \/ CNV \u2013 pentru completarea cu analiza anomaliilor cromozomiale<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>CentoXome MOx 2.0 Solo<\/strong> este un test genomic complex de tip Whole Exome Sequencing (WES), completat de analiza expresiei genice (ARNm\/transcriptomic\u0103), conceput pentru identificarea cauzelor genetice ale bolilor rare \u0219i complexe. Aceast\u0103 combina\u021bie unic\u0103 \u00eentre analiza exomic\u0103 \u0219i transcriptomic\u0103 ofer\u0103 o interpretare superioar\u0103 a variantelor genetice \u0219i cre\u0219te rata de diagnostic molecular.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>Testul examineaz\u0103 toate genele codante ale genomului uman (peste 20.000 de gene), acoperind regiunile exomice relevante asociate bolilor monogenice cunoscute, precum \u0219i regiuni candidate emergente.<\/p>\n<p>Prin integrarea datelor transcriptomice sunt evaluate modific\u0103rile de expresie genic\u0103 \u0219i efectele asupra splicingului (ARN splicing).<\/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-26863","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":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/26863","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=26863"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26863"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26863"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26863"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}