{"id":27242,"date":"2025-06-24T15:50:19","date_gmt":"2025-06-24T12:50:19","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/analiza-ngs-a-genei-atp2a2-boala-darier\/"},"modified":"2026-06-30T15:53:39","modified_gmt":"2026-06-30T12:53:39","slug":"analiza-ngs-a-genei-atp2a2-boala-darier","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-ngs-a-genei-atp2a2-boala-darier\/","title":{"rendered":"Analiza NGS a genei ATP2A2 – Boala Darier"},"content":{"rendered":"

Analiza vizeaz\u0103 secven\u021bierea complet\u0103 a genei ATP2A2<\/em>, care codific\u0103 proteina SERCA2, o pomp\u0103 de calciu esen\u021bial\u0103 pentru homeostazia celular\u0103 \u00een epiderm. Muta\u021biile acestei gene afecteaz\u0103 coeziunea celular\u0103 \u0219i procesele de keratinizare, duc\u00e2nd la apari\u021bia leziunilor tipice bolii Darier.
Tehnologia NGS permite detectarea variantelor punctiforme, a inser\u021biilor \u0219i dele\u021biilor mici (INDEL) \u0219i a variantelor rare, facilit\u00e2nd stabilirea diagnosticului molecular la pacien\u021bii cu fenotip tipic sau atipic.<\/p>\n

Afec\u021biuni sau simptome asociate (detaliat):<\/h3>\n

Boala Darier (Keratosis Follicularis) este o dermatopatie genetic\u0103 caracterizat\u0103 prin:<\/h3>\n

Manifest\u0103ri cutanate:<\/h3>\n
    \n
  • Papule keratozice care se unesc \u00een pl\u0103ci cu aspect \u201egr\u0103un\u021bos\u201d, adesea pruriginoase;<\/li>\n
  • Localizare predominant\u0103 \u00een zonele seboreice: torace superior, spate, frunte, scalp, pliuri;<\/li>\n
  • Perioade de acutizare \u00een special vara, la c\u0103ldur\u0103 \u0219i transpira\u021bie;<\/li>\n
  • Miros nepl\u0103cut al pielii, cauzat de suprainfec\u021bii bacteriene sau colonizare cu Staphylococcus aureus<\/em>.<\/li>\n<\/ul>\n

    Manifest\u0103ri unghiale specifice:<\/h3>\n
      \n
    • striuri ro\u0219ii-albe longitudinale<\/strong>,<\/li>\n
    • fragilitate<\/strong>,<\/li>\n
    • V-notching<\/strong> (fisuri \u00een form\u0103 de V la marginea unghiei) \u2013 semn foarte sugestiv;<\/li>\n
    • hipercheratoz\u0103 subunghial\u0103<\/strong>.<\/li>\n<\/ul>\n

      Manifest\u0103ri mucoase:<\/h3>\n
        \n
      • Papule albicioase pe mucoasa oral\u0103 (\u201ewhite cobblestoning\u201d);<\/li>\n
      • Leziuni laringiene sau esofagiene (rare).<\/li>\n<\/ul>\n

        Simptome sistemice posibile:<\/h3>\n
          \n
        • Tulbur\u0103ri de dispozi\u021bie (depresie, anxietate), raportate cu o frecven\u021b\u0103 u\u0219or crescut\u0103 \u00een r\u00e2ndul pacien\u021bilor;<\/li>\n
        • Fotosensibilitate \u0219i agravare la soare;<\/li>\n
        • Exacerb\u0103ri la infec\u021bii, stres, c\u0103ldur\u0103, litiu, izotretinoin (\u00een unele cazuri).<\/li>\n<\/ul>\n

          Cui se adreseaz\u0103:<\/h3>\n
            \n
          • Dermatologilor \u0219i geneticieni care evalueaz\u0103 pacien\u021bi cu leziuni sugestive;<\/li>\n
          • Pacien\u021bilor cu istoric familial de boal\u0103 Darier (transmitere autosomal dominant\u0103, risc 50%);<\/li>\n
          • Cazurilor cu fenotip atipic care necesit\u0103 confirmare molecular\u0103.<\/li>\n<\/ul>\n

            Metodologie:<\/h3>\n
              \n
            • NGS \u021bintit pentru gena ATP2A2<\/em>;<\/li>\n
            • Detectarea \u0219i clasificarea variantelor patogene, probabil patogene \u0219i cu semnifica\u021bie incert\u0103 (VUS);<\/li>\n
            • Validare prin metode de confirmare atunci c\u00e2nd este necesar.<\/li>\n<\/ul>\n

              Beneficii clinice:<\/h3>\n
                \n
              • Confirmarea diagnosticului dermatologic;<\/li>\n
              • Permite diferen\u021biere fa\u021b\u0103 de alte dermatoze precum: boala Hailey-Hailey, keratoza seboreic\u0103, psoriazis;<\/li>\n
              • Sprijin \u00een consilierea genetic\u0103 \u0219i planificarea familial\u0103;<\/li>\n
              • Sprijin\u0103 stabilirea conduitei terapeutice \u0219i monitorizarea pacientului.<\/li>\n<\/ul>\n

                Limit\u0103ri:<\/h3>\n
                  \n
                • Nu evalueaz\u0103 alte gene implicate \u00een dermatoze similare;<\/li>\n
                • Variantele cu semnifica\u021bie incert\u0103 necesit\u0103 corelare clinic\u0103;<\/li>\n
                • Rearanjamentele complexe pot s\u0103 nu fie identificate prin NGS.<\/li>\n<\/ul>\n

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

                  S\u00e2nge periferic (EDTA).<\/p>\n

                  Recoltare:<\/h3>\n

                  Recoltare standard de s\u00e2nge, vacutainer mov, 2 x 6 ml<\/p>\n

                  Condi\u021bii:<\/h3>\n
                    \n
                  • F\u0103r\u0103 hemoliz\u0103;<\/li>\n
                  • Transport stabil, la temperatura recomandat\u0103.<\/li>\n<\/ul>\n

                    Denumiri alternative:<\/h3>\n
                      \n
                    • Test genetic Boala Darier;<\/li>\n
                    • Analiza genei ATP2A2<\/em> prin NGS;<\/li>\n
                    • Keratosis Follicularis \u2013 confirmare molecular\u0103.<\/li>\n<\/ul>\n

                      Analize asociate recomandate:<\/h3>\n
                        \n
                      • Panel dermatologie extins dac\u0103 simptomele sunt atipice;<\/li>\n
                      • Consiliere genetic\u0103;<\/li>\n
                      • Evaluare dermatologic\u0103 periodic\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                        Test genetic prin secven\u021biere NGS pentru identificarea variantelor patogene \u00een gena ATP2A2<\/em>, responsabil\u0103 pentru boala Darier (keratosis follicularis), o afec\u021biune dermatologic\u0103 ereditar\u0103 cu transmitere autosomal dominant\u0103.<\/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-27242","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