{"id":70981,"date":"2026-01-21T11:04:22","date_gmt":"2026-01-21T09:04:22","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/panel-ngs-carrier-screening-avansat-bazat-pe-exom-2000-gene-si-wes-bioexome\/"},"modified":"2026-03-24T10:52:28","modified_gmt":"2026-03-24T08:52:28","slug":"panel-ngs-carrier-screening-avansat-bazat-pe-exom-2000-gene-si-wes-bioexome","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-ngs-carrier-screening-avansat-bazat-pe-exom-2000-gene-si-wes-bioexome\/","title":{"rendered":"Panel NGS Carrier screening avansat bazat pe exom (>2000 gene) si WES \u2013 Bioexome"},"content":{"rendered":"

Panel NGS Carrier Screening avansat bazat pe exom (>2000 gene) + WES \u2013 BioExome integreaz\u0103 dou\u0103 abord\u0103ri complementare \u00eentr-o singur\u0103 analiz\u0103:<\/p>\n

    \n
  1. Carrier Screening bazat pe exom<\/b><\/span>, care analizeaz\u0103 peste 2000 de gene<\/span><\/b> asociate bolilor genetice autosomale recesive \u0219i X-linkate, cu scopul identific\u0103rii statusului de purt\u0103tor la indivizi aparent s\u0103n\u0103to\u0219i;<\/li>\n
  2. WES (Whole Exome Sequencing)<\/b>, care investigheaz\u0103 global regiunile codante ale genomului uman, fiind indicat \u00een cazurile cu suspiciune de boal\u0103 genetic\u0103 rar\u0103 sau fenotip complex.<\/li>\n<\/ol>\n

    Aceast\u0103 combina\u021bie permite at\u00e2t evaluarea riscului de transmitere genetic\u0103 c\u0103tre descenden\u021bi, c\u00e2t \u0219i identificarea cauzelor genetice ale afec\u021biunilor monogenice, oferind o abordare integrat\u0103, flexibil\u0103 \u0219i cu randament diagnostic crescut.<\/p>\n

    Afec\u021biuni sau indica\u021bii asociate:<\/b><\/span><\/p>\n

      \n
    • Screening genetic preconcep\u021bional sau pre-FIV;<\/li>\n
    • Evaluarea riscului genetic reproductiv de cuplu;<\/li>\n
    • Boli genetice rare cu fenotip complex sau nespecific;<\/li>\n
    • Suspiciune de afec\u021biune monogenic\u0103 nediagnosticat\u0103;<\/li>\n
    • Istoric familial de boli genetice;<\/li>\n
    • E\u0219ecuri diagnostice anterioare prin paneluri standardizate;<\/li>\n
    • Pierderi de sarcin\u0103 recurente sau infertilitate de cauz\u0103 genetic\u0103.<\/li>\n<\/ul>\n

      Cui se adreseaz\u0103:
      \n<\/b><\/span><\/p>\n

      Medicilor geneticieni, obstetricieni-ginecologi, speciali\u0219tilor \u00een medicin\u0103 reproductiv\u0103, pediatri, neurologi \u0219i consilierilor genetici implica\u021bi \u00een evaluarea riscului genetic \u0219i \u00een diagnosticul bolilor genetice.<\/p>\n

      Metodologie de testare:<\/span><\/b>
      \n<\/b><\/span><\/p>\n

      Secven\u021biere de nou\u0103 genera\u021bie (NGS) bazat\u0103 pe exom, aplicat\u0103 ADN-ului genomic extras din s\u00e2nge periferic.<\/p>\n

      Analiza include:<\/span>
      \n<\/b><\/span><\/p>\n

        \n
      • Carrier Screening extins (>2000 gene) <\/b>pentru identificarea variantelor patogene \u0219i probabil patogene asociate bolilor autosomale recesive \u0219i X-linkate;<\/li>\n
      • WES (Whole Exome Sequencing)<\/b> pentru investigarea complet\u0103 a regiunilor codante, cu posibilitatea reinterpret\u0103rii datelor \u00een func\u021bie de evolu\u021bia clinic\u0103.<\/li>\n<\/ul>\n

        Sunt analizate regiunile codante \u0219i limitele intron\u2013exon, cu raportarea variantelor patogene, probabil patogene \u0219i a variantelor de semnifica\u021bie clinic\u0103 incert\u0103 (VUS).Confirmarea variantelor clinice relevante se realizeaz\u0103, la nevoie, prin secven\u021biere Sanger.<\/p>\n

        Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/span><\/b><\/p>\n

          \n
        • Integreaz\u0103 screeningul de purt\u0103tor cu diagnosticul genetic bazat pe exom.<\/li>\n
        • Permite evaluarea complet\u0103 a riscului reproductiv individual \u0219i de cuplu.<\/li>\n
        • Cre\u0219te semnificativ rata de diagnostic \u00een bolile genetice rare.<\/li>\n
        • Reduce timpul \u0219i costurile investiga\u021biilor genetice secven\u021biale.<\/li>\n
        • Ofer\u0103 suport esen\u021bial pentru consilierea genetic\u0103 familial\u0103 \u0219i reproductiv\u0103.<\/li>\n
        • Permite reinterpretarea ulterioar\u0103 a datelor WES, \u00een func\u021bie de evolu\u021bia fenotipului.<\/li>\n<\/ul>\n

          Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/span><\/b><\/p>\n

            \n
          • Testul nu detecteaz\u0103 toate tipurile de varia\u021bii genetice (ex. rearanjamente cromozomiale mari sau muta\u021bii \u00een regiuni neacoperite de exom).<\/li>\n
          • Identificarea variantelor de semnifica\u021bie incert\u0103 este posibil\u0103 \u0219i necesit\u0103 interpretare clinic\u0103.<\/li>\n
          • Un rezultat negativ nu exclude complet o etiologie genetic\u0103.<\/li>\n
          • Interpretarea rezultatelor trebuie realizat\u0103 \u00een context clinic \u0219i fenotipic.<\/li>\n<\/ul>\n

            Tip prob\u0103:<\/b><\/span><\/p>\n

            S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n

            Recoltare:<\/span><\/b><\/p>\n

            Proba se recolteaz\u0103 \u00een vacutainer cu EDTA.<\/p>\n

            Condi\u021bii:<\/span><\/b><\/p>\n

            Transport la 2\u20138\u00b0C, f\u0103r\u0103 congelare. Probele hemolizate sau insuficiente pot compromite analiza.<\/p>\n

            Analize asociate recomandate:
            \n<\/span><\/b><\/p>\n

              \n
            • Consiliere genetic\u0103 pre- \u0219i post-testare;
              \n<\/span><\/b><\/li>\n
            • Testare genetic\u0103 a partenerului (dac\u0103 se identific\u0103 status de purt\u0103tor)<\/li>\n
            • PGT (diagnostic genetic preimplanta\u021bional) sau testare prenatal\u0103, dac\u0103 este indicat<\/li>\n
            • Paneluri NGS dedicate, \u00een func\u021bie de fenotip<\/li>\n
            • Reevaluare \u0219i reinterpretare genetic\u0103 periodic\u0103<\/li>\n<\/ul>\n

              \u00a0<\/span><\/b><\/p>\n

              \u00a0<\/span><\/b><\/p>\n

               <\/p>\n

              \u00a0<\/b><\/span><\/p>\n

               <\/p>\n

               <\/p>\n

               <\/p>\n

               <\/p>\n


              \n<\/b><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

              Panel NGS Carrier Screening avansat bazat pe exom (>2000 gene) + WES \u2013 BioExome combin\u0103 Carrier Screening extins (>2000 gene) <\/b>cu Secven\u021bierea Complet\u0103 a Exomului (WES \u2013 Whole Exome Sequencing)<\/b>, oferind o evaluare genetic\u0103 extins\u0103 at\u00e2t pentru riscul reproductiv, c\u00e2t \u0219i pentru diagnosticul afec\u021biunilor genetice.<\/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-70981","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\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t