{"id":26903,"date":"2025-06-24T15:30:30","date_gmt":"2025-06-24T12:30:30","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/gena-acadm-deficienta-de-acyl-coa-dehidrogenaza-cu-lant-mediu-mcad-deficiency\/"},"modified":"2026-06-30T16:04:38","modified_gmt":"2026-06-30T13:04:38","slug":"gena-acadm-deficienta-de-acyl-coa-dehidrogenaza-cu-lant-mediu-mcad-deficiency","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/gena-acadm-deficienta-de-acyl-coa-dehidrogenaza-cu-lant-mediu-mcad-deficiency\/","title":{"rendered":"Gena ACADM – Deficienta de Acyl-CoA dehidrogenaza cu lant mediu (MCAD deficiency), secventiere NGS"},"content":{"rendered":"

Testul permite detec\u021bia muta\u021biilor din gena ACADM<\/strong>, responsabil\u0103 de codificarea enzimei MCAD (Medium-Chain Acyl-CoA Dehydrogenase), esen\u021bial\u0103 pentru producerea energiei din acizii gra\u0219i cu lan\u021b mediu \u00een perioadele de post sau stres metabolic.<\/p>\n

Termen de execu\u021bie*<\/h3>\n

45 zile lucr\u0103toare<\/p>\n

Despre analiza genei ACADM \u2013 MCAD deficiency<\/h3>\n

Gena ACADM<\/strong>, localizat\u0103 pe cromozomul 1p31, codific\u0103 enzima mitocondrial\u0103 medium-chain acyl-CoA dehydrogenase<\/strong>, implicat\u0103 \u00een beta-oxidarea acizilor gra\u0219i cu lan\u021b mediu (C6\u2013C12).<\/p>\n

Deficien\u021ba acestei enzime determin\u0103 incapacitatea organismului de a produce energie suficient\u0103 \u00een perioadele de:<\/p>\n

    \n
  • post prelungit<\/li>\n
  • infec\u021bii acute<\/li>\n
  • stres metabolic crescut<\/li>\n<\/ul>\n

    Aceast\u0103 tulburare este autosomal recesiv\u0103<\/strong> \u0219i poate avea manifest\u0103ri severe, inclusiv episoade de hipoglicemie hipoketotic\u0103 poten\u021bial letal\u0103 mai ales \u00een copil\u0103ria timpurie.<\/p>\n

    Secven\u021bierea NGS permite identificarea:<\/h3>\n
      \n
    • variantelor punctiforme (SNV)<\/li>\n
    • inser\u021biilor \u0219i dele\u021biilor mici (INDEL)<\/li>\n
    • variantelor splice-site<\/li>\n
    • variantelor patogene frecvente \u0219i rare ale genei ACADM<\/li>\n<\/ul>\n

      Afec\u021biuni sau simptome asociate<\/h3>\n

      Testul este indicat \u00een:<\/h3>\n
        \n
      • deficien\u021b\u0103 de MCAD (ACADM deficiency)<\/li>\n
      • episoade de hipoglicemie hipoketotic\u0103<\/li>\n
      • letargie \u0219i convulsii \u00een context de post sau infec\u021bii<\/li>\n
      • sindrom de moarte subit\u0103 la sugar (investiga\u021bie post-mortem genetic\u0103)<\/li>\n
      • encefalopatie metabolic\u0103 acut\u0103<\/li>\n
      • hepatomegalie de cauz\u0103 metabolic\u0103<\/li>\n
      • acidoz\u0103 metabolic\u0103 inexplicabil\u0103<\/li>\n
      • tulbur\u0103ri de oxidare a acizilor gra\u0219i<\/li>\n
      • istoric familial de boli metabolice ereditare<\/li>\n
      • screening metabolic neonatal pozitiv<\/li>\n<\/ul>\n

        Cui se adreseaz\u0103<\/h3>\n
          \n
        • nou-n\u0103scu\u021bilor cu suspiciune de boal\u0103 metabolic\u0103<\/li>\n
        • copiilor cu episoade recurente de hipoglicemie<\/li>\n
        • pacien\u021bilor cu encefalopatie metabolic\u0103 acut\u0103<\/li>\n
        • persoanelor cu istoric familial de deficien\u021b\u0103 MCAD<\/li>\n
        • cazurilor cu screening neonatal pozitiv<\/li>\n
        • pacien\u021bilor cu suspiciune de boal\u0103 de oxidare a acizilor gra\u0219i<\/li>\n
        • familiilor care necesit\u0103 consiliere genetic\u0103 reproductiv\u0103<\/li>\n
        • cazurilor de mortalitate infantil\u0103 inexplicat\u0103<\/li>\n<\/ul>\n

          Metodologie de testare<\/h3>\n
            \n
          • extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n
          • secven\u021biere de nou\u0103 genera\u021bie (NGS) a genei ACADM<\/li>\n
          • analiz\u0103 bioinformatic\u0103 a regiunilor codante \u0219i splice<\/li>\n
          • identificarea:\n
              \n
            • SNV (muta\u021bii punctiforme)<\/li>\n
            • INDEL (inser\u021bii\/dele\u021bii mici)<\/li>\n
            • variante patogene \u0219i probabil patogene<\/li>\n<\/ul>\n<\/li>\n
            • clasificare conform ghidurilor ACMG<\/li>\n
            • interpretare clinic\u0103 \u00een corela\u021bie cu fenotipul metabolic<\/li>\n<\/ul>\n

              Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
                \n
              • confirm\u0103 diagnosticul molecular al deficien\u021bei MCAD<\/li>\n
              • permite interven\u021bie precoce \u0219i prevenirea episoadelor metabolice severe<\/li>\n
              • reduce riscul de complica\u021bii neurologice ireversibile<\/li>\n
              • faciliteaz\u0103 screeningul familial \u0219i consilierea genetic\u0103<\/li>\n
              • sprijin\u0103 managementul dietetic \u0219i metabolic personalizat<\/li>\n
              • permite prevenirea decompens\u0103rilor \u00een situa\u021bii de stres metabolic<\/li>\n
              • contribuie la diagnosticul cauzelor de hipoglicemie inexplicabil\u0103<\/li>\n<\/ul>\n

                Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
                  \n
                • boala este autosomal recesiv\u0103; purt\u0103torii sunt de obicei asimptomatici<\/li>\n
                • pot exista variante rare neincluse sau dificil de interpretat (VUS)<\/li>\n
                • un rezultat negativ nu exclude complet alte tulbur\u0103ri de oxidare a acizilor gra\u0219i<\/li>\n
                • interpretarea trebuie corelat\u0103 cu profilul metabolic (acilcarnitine, glicemie, cetone)<\/li>\n
                • fenotipul poate varia semnificativ \u00eentre pacien\u021bi<\/li>\n
                • necesit\u0103 corelare cu screeningul neonatal \u0219i investiga\u021biile biochimice<\/li>\n<\/ul>\n

                  Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n

                  Prob\u0103 necesar\u0103:<\/h3>\n
                    \n
                  • s\u00e2nge integral EDTA<\/li>\n<\/ul>\n

                    Volum recomandat:<\/h3>\n
                      \n
                    • 2 \u00d7 6 ml s\u00e2nge periferic<\/li>\n<\/ul>\n

                      Condi\u021bii de recoltare:<\/h3>\n
                        \n
                      • recoltare venoas\u0103 standard<\/li>\n
                      • nu necesit\u0103 preg\u0103tire special\u0103<\/li>\n
                      • transport conform protocolului laboratorului<\/li>\n<\/ul>\n

                        Analize asociate recomandate<\/h3>\n
                          \n
                        • Profil acilcarnitine plasmatice<\/strong> \u2013 evaluare metabolic\u0103 specific\u0103<\/li>\n
                        • Glicemie \u0219i corpi cetonici<\/strong> \u2013 evaluarea statusului energetic<\/li>\n
                        • Panel NGS <\/strong>boli metabolice ereditare<\/li>\n
                        • Analiza altor gene FAO (oxidarea acizilor gra\u0219i)<\/strong> \u2013 ex. CPT2, ETFDH<\/li>\n
                        • Screening metabolic <\/strong>neonatal extins<\/li>\n
                        • Evaluare neurologic\u0103 pediatric\u0103<\/li>\n
                        • Consiliere genetic\u0103 familial\u0103<\/li>\n<\/ul>\n

                          Particularitate clinic\u0103 important\u0103<\/h3>\n

                          Deficien\u021ba de ACADM (MCAD deficiency)<\/strong> este una dintre cele mai frecvente boli metabolice ereditare cu risc de decompensare acut\u0103 sever\u0103, dar \u0219i una dintre cele mai prevenibile prin diagnostic genetic precoce. Identificarea muta\u021biilor prin NGS permite implementarea rapid\u0103 a m\u0103surilor preventive simple (evitarea postului prelungit, managementul infec\u021biilor), reduc\u00e2nd semnificativ riscul de complica\u021bii neurologice sau evenimente letale.<\/p>\n","protected":false},"excerpt":{"rendered":"

                          Analiza genei ACADM prin secven\u021biere NGS<\/strong> este un test genetic utilizat pentru identificarea variantelor patogene asociate cu deficien\u021ba de acil-CoA dehidrogenaz\u0103 cu lan\u021b mediu (MCAD deficiency)<\/strong>, o boal\u0103 metabolic\u0103 ereditar\u0103 din grupul tulbur\u0103rilor de oxidare a acizilor gra\u0219i.<\/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-26903","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