{"id":27733,"date":"2025-06-24T16:51:26","date_gmt":"2025-06-24T13:51:26","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/mlpa-analiza-deletii-duplicatii-genele-pkd1-si-pkd2-boala-polichistica-renala-cu-transmitere-autozomal-dominanta\/"},"modified":"2026-06-30T17:23:43","modified_gmt":"2026-06-30T14:23:43","slug":"mlpa-analiza-deletii-duplicatii-genele-pkd1-si-pkd2-boala-polichistica-renala-cu-transmitere-autozomal-dominanta","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/mlpa-analiza-deletii-duplicatii-genele-pkd1-si-pkd2-boala-polichistica-renala-cu-transmitere-autozomal-dominanta\/","title":{"rendered":"MLPA (analiza deletii\/duplicatii) genele PKD1 si PKD2 (Boala polichistica renala cu transmitere autozomal dominanta)"},"content":{"rendered":"

Boala polichistic\u0103 renal\u0103 cu transmitere autozomal dominant\u0103 (ADPKD) este una dintre cele mai frecvente afec\u021biuni genetice renale, caracterizat\u0103 prin dezvoltarea progresiv\u0103 a multiplelor chisturi renale \u0219i deteriorarea func\u021biei renale \u00een timp.<\/p>\n

Aproximativ 85% dintre cazuri sunt cauzate de muta\u021bii \u00een gena PKD1<\/strong>, iar majoritatea cazurilor r\u0103mase sunt asociate cu muta\u021bii ale genei PKD2<\/strong>. Aceste gene codific\u0103 proteinele policistina-1 \u0219i policistina-2, implicate \u00een men\u021binerea structurii \u0219i func\u021biei normale a tubilor renali.<\/p>\n

Analiza MLPA permite identificarea dele\u021biilor \u0219i duplica\u021biilor exonice sau genice complete care afecteaz\u0103 PKD1 \u0219i PKD2, modific\u0103ri ce pot fi omise prin metodele standard de secven\u021biere. Testul reprezint\u0103 o component\u0103 important\u0103 a diagnosticului molecular al ADPKD, \u00een special atunci c\u00e2nd secven\u021bierea nu identific\u0103 variante patogene.<\/p>\n

Afec\u021biuni sau simptome asociate:<\/h3>\n
    \n
  • Boal\u0103 polichistic\u0103 renal\u0103 cu transmitere autozomal dominant\u0103 (ADPKD);<\/li>\n
  • Chisturi renale multiple bilaterale;<\/li>\n
  • Hipertensiune arterial\u0103 cu debut precoce;<\/li>\n
  • Hematurie recurent\u0103;<\/li>\n
  • Durere lombar\u0103 sau abdominal\u0103;<\/li>\n
  • Infec\u021bii urinare recurente;<\/li>\n
  • Litiaz\u0103 renal\u0103;<\/li>\n
  • Insuficien\u021b\u0103 renal\u0103 cronic\u0103 progresiv\u0103;<\/li>\n
  • Chisturi hepatice \u0219i pancreatice;<\/li>\n
  • Anevrisme intracraniene familiale asociate ADPKD.<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103:<\/h3>\n

    Medicilor nefrologi, geneticienilor, pediatrilor, interni\u0219tilor \u0219i altor speciali\u0219ti implica\u021bi \u00een diagnosticul \u0219i monitorizarea pacien\u021bilor cu suspiciune de boal\u0103 polichistic\u0103 renal\u0103 ereditar\u0103.<\/p>\n

    Metodologie de testare:<\/h3>\n

    Analiza este realizat\u0103 prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n

    Metoda permite evaluarea num\u0103rului de copii ale exonilor genelor PKD1 \u0219i PKD2 \u0219i identificarea:<\/h3>\n
      \n
    • dele\u021biilor exonice;<\/li>\n
    • duplica\u021biilor exonice;<\/li>\n
    • dele\u021biilor genice complete sau par\u021biale;<\/li>\n
    • duplica\u021biilor genice complete sau par\u021biale.<\/li>\n<\/ul>\n

      MLPA completeaz\u0103 investiga\u021biile de secven\u021biere \u0219i cre\u0219te rata de detec\u021bie a modific\u0103rilor genetice responsabile de ADPKD.<\/p>\n

      Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n
        \n
      • Confirm\u0103 diagnosticul molecular al ADPKD;<\/li>\n
      • Detecteaz\u0103 rearanjamente genetice care nu pot fi identificate prin secven\u021biere conven\u021bional\u0103;<\/li>\n
      • Permite diferen\u021bierea formelor ereditare de alte boli chistice renale;<\/li>\n
      • Contribuie la evaluarea riscului familial \u0219i a transmiterii genetice;<\/li>\n
      • Faciliteaz\u0103 diagnosticul precoce la membrii familiei afla\u021bi la risc;<\/li>\n
      • Sprijin\u0103 planificarea monitoriz\u0103rii nefrologice \u0219i a managementului pe termen lung.<\/li>\n<\/ul>\n

        Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n
          \n
        • Testul detecteaz\u0103 exclusiv dele\u021bii \u0219i duplica\u021bii la nivelul PKD1 \u0219i PKD2;<\/li>\n
        • Nu identific\u0103 muta\u021bii punctiforme, inser\u021bii\/dele\u021bii mici sau variante intronice profunde;<\/li>\n
        • Un rezultat negativ nu exclude complet diagnosticul de ADPKD;<\/li>\n
        • Pentru caracterizarea complet\u0103 a genei poate fi necesar\u0103 secven\u021bierea PKD1 \u0219i PKD2 prin NGS sau alte metode moleculare.<\/li>\n<\/ul>\n

          Tip prob\u0103:<\/h3>\n

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

          Recoltare:<\/h3>\n

          Proba se recolteaz\u0103 \u00een vacutainer cu EDTA, conform procedurilor standard de recoltare pentru analize genetice.<\/p>\n

          Condi\u021bii:<\/h3>\n

          Transport la 2 – 8\u00b0C.<\/p>\n

          Denumiri alternative:<\/h3>\n
            \n
          • MLPA PKD1\/PKD2;<\/li>\n
          • Analiza dele\u021biilor \u0219i duplica\u021biilor PKD1 \u0219i PKD2;<\/li>\n
          • Test genetic ADPKD prin MLPA;<\/li>\n
          • Screening rearanjamente PKD1\/PKD2;<\/li>\n
          • Diagnostic molecular pentru boala polichistic\u0103 renal\u0103 autozomal dominant\u0103.<\/li>\n<\/ul>\n

            Analize asociate recomandate:<\/h3>\n
              \n
            • Secven\u021biere NGS a genelor PKD1 \u0219i PKD2;<\/li>\n
            • Ecografie renal\u0103;<\/li>\n
            • RMN renal pentru evaluarea volumului renal total;<\/li>\n
            • Evaluarea func\u021biei renale (creatinin\u0103, eGFR);<\/li>\n
            • Analiza proteinuriei \u0219i albuminuriei;<\/li>\n
            • Screening familial genetic;<\/li>\n
            • Consiliere genetic\u0103 \u00eenainte \u0219i dup\u0103 testare.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

              Analiz\u0103 genetic\u0103 realizat\u0103 prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification), utilizat\u0103 pentru detectarea dele\u021biilor \u0219i duplica\u021biilor la nivelul genelor PKD1<\/strong> \u0219i PKD2<\/strong>, principalele gene implicate \u00een boala polichistic\u0103 renal\u0103 cu transmitere autozomal dominant\u0103 (ADPKD).<\/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-27733","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","pa_medical-conditions-boala-polichistica-renala","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