{"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":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"CentoXome MOx 2.0 Solo 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.Gene analizateTestul 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.Prin integrarea datelor transcriptomice sunt evaluate modific\u0103rile de expresie genic\u0103 \u0219i efectele asupra splicingului (ARN splicing).\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/centoxome-mox-2-0-solo-wes-whole-exome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"CentoXome Mox 2.0 Solo \u2013 WES (whole exome sequencing) _ include analiza de secventiere mARN (transcriptom) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"CentoXome MOx 2.0 Solo 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.Gene analizateTestul 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.Prin integrarea datelor transcriptomice sunt evaluate modific\u0103rile de expresie genic\u0103 \u0219i efectele asupra splicingului (ARN splicing).\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/centoxome-mox-2-0-solo-wes-whole-exome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:28:02+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T15:54:31+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"CentoXome Mox 2.0 Solo \u2013 WES (whole exome sequencing) _ include analiza de secventiere mARN (transcriptom) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"CentoXome MOx 2.0 Solo 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. 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