{"id":26643,"date":"2025-06-24T14:14:06","date_gmt":"2025-06-24T12:14:06","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-mlpa-gena-gaa-boala-pompe\/"},"modified":"2026-02-27T17:51:53","modified_gmt":"2026-02-27T15:51:53","slug":"testare-mlpa-gena-gaa-boala-pompe","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/testare-mlpa-gena-gaa-boala-pompe\/","title":{"rendered":"Testare MLPA \u2013 gena GAA (Boala Pompe)"},"content":{"rendered":"<p><strong>Boala Pompe (sau glicogenoza de tip II) <\/strong>este cauzat\u0103 de muta\u021bii \u00een gena GAA, localizat\u0103 pe cromozomul 17q25.3, care duc la absen\u021ba sau sc\u0103derea activit\u0103\u021bii enzimei alfa-glucozidaz\u0103 acid\u0103.<\/p>\n<\/p>\n<p>Aceast\u0103 enzim\u0103 este esen\u021bial\u0103 pentru degradarea glicogenului \u00een lizozomi. Deficitul ei determin\u0103 acumularea toxic\u0103 de glicogen \u00een celulele musculare, duc\u00e2nd la sl\u0103biciune muscular\u0103 progresiv\u0103, afectare respiratorie \u0219i, \u00een formele infantile, cardiomiopatie hipertrofic\u0103 sever\u0103.<\/p>\n<\/p>\n<p> Metoda MLPA (Multiplex Ligation-dependent Probe Amplification) permite identificarea modific\u0103rilor cantitative (dele\u021bii sau duplica\u021bii) la nivelul exoanelor genei GAA, complet\u00e2nd testele de secven\u021biere clasic\u0103 (NGS sau Sanger), care detecteaz\u0103 doar muta\u021biile punctiforme.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>boala Pompe infantil\u0103 (debut precoce, cu cardiomiopatie \u0219i hipotonie sever\u0103)<\/li>\n<li>boala Pompe cu debut tardiv (sl\u0103biciune muscular\u0103 progresiv\u0103, insuficien\u021b\u0103 respiratorie)<\/li>\n<li>hipotonie generalizat\u0103, fatigabilitate, intoleran\u021b\u0103 la efort<\/li>\n<li>miopatii lizozomale de cauz\u0103 neprecizat\u0103<\/li>\n<li>suspiciune clinic\u0103 sau biochimic\u0103 de deficit de alfa-glucozidaz\u0103 acid\u0103<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor (copii sau adul\u021bi) cu suspiciune clinic\u0103 de boal\u0103 Pompe<\/li>\n<li>persoanelor la care testele enzimatice arat\u0103 deficit par\u021bial de GAA<\/li>\n<li>p\u0103rin\u021bilor sau rudelor de gradul I ale unui pacient diagnosticat cu boal\u0103 Pompe<\/li>\n<li>\u00een cadrul screening<strong>u<\/strong>lui molecular complementar test\u0103rii enzimelor lizozomale<\/li>\n<\/ul>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<\/p>\n<ul>\n<li>metod\u0103: MLPA (Multiplex Ligation-dependent Probe Amplification)<\/li>\n<li>principiu: detec\u021bia dele\u021biilor \u0219i duplica\u021biilor la nivelul exoanelor genei GAA<\/li>\n<li>avantaje: sensibilitate ridicat\u0103 pentru varia\u021bii de num\u0103r de copii (CNV), completarea test\u0103rii genetice prin NGS\/Sanger<\/li>\n<li>limit\u0103ri: nu identific\u0103 muta\u021biile punctiforme, inser\u021biile sau dele\u021biile mici<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea diagnosticului genetic de boal\u0103 Pompe la pacien\u021bi cu deficit enzimatic<\/li>\n<li>identificarea purt\u0103torilor heterozigo\u021bi \u00een familiile afectate<\/li>\n<li>optimizarea consilierii genetice \u0219i a diagnosticului prenatal<\/li>\n<li>ghidarea tratamentului specific prin terapie de substitu\u021bie enzimatic\u0103 (ERT \u2013 enzyme replacement therapy)<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/strong><\/p>\n<\/p>\n<ul>\n<li>testul MLPA se realizeaz\u0103 doar din ADN genomic de calitate corespunz\u0103toare<\/li>\n<li>rezultatele trebuie interpretate \u00een corela\u021bie cu datele clinice \u0219i enzimatice<\/li>\n<li>este recomandat\u0103 completarea cu analiz\u0103 molecular\u0103 prin secven\u021biere (NGS) pentru detectarea muta\u021biilor punctiforme \u00een GAA<\/li>\n<li>testul nu ofer\u0103 informa\u021bii despre expresia genei sau activitatea enzimatic\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>activitatea enzimei alfa-glucozidaz\u0103 acid\u0103 (test enzimatic<\/li>\n<li>secven\u021biere complet\u0103 a genei GAA prin NGS<\/li>\n<li>panel boli lizozomale (screening genetic extins)<\/li>\n<li>consiliere genetic\u0103 familial\u0103<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Analiza MLPA pentru gena GAA<\/strong> este un test genetic molecular utilizat pentru detectarea dele\u021biilor sau duplica\u021biilor la nivelul genei GAA, responsabil\u0103 de producerea enzimei alfa-glucozidaz\u0103 acid\u0103. Deficitul acestei enzime determin\u0103 boala Pompe, o afec\u021biune metabolic\u0103 rar\u0103 cu transmitere autozomal recesiv\u0103, caracterizat\u0103 prin acumularea progresiv\u0103 de glicogen \u00een celule, \u00een special \u00een mu\u0219chi \u0219i inim\u0103. Simptomele acestei boli includ sl\u0103biciune muscular\u0103 progresiv\u0103, dificult\u0103\u021bi respiratorii, tonus muscular sc\u0103zut, ficat, inim\u0103 sau limb\u0103 m\u0103rite \u0219i, la sugari, cre\u0219tere lent\u0103 \u00een greutate. Severitatea \u0219i debutul simptomelor variaz\u0103 \u00een func\u021bie de v\u00e2rst\u0103 \u0219i tipul bolii.\u00a0<\/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-26643","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":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/26643","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=26643"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26643"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26643"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26643"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}