{"id":27380,"date":"2025-06-24T14:57:55","date_gmt":"2025-06-24T12:57:55","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/boala-pompe-gena-gaa-secventiere-ngs\/"},"modified":"2026-02-27T18:01:48","modified_gmt":"2026-02-27T16:01:48","slug":"boala-pompe-gena-gaa-secventiere-ngs","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/boala-pompe-gena-gaa-secventiere-ngs\/","title":{"rendered":"Boala Pompe- gena GAA- secventiere NGS"},"content":{"rendered":"<p><strong>Boala Pompe <\/strong>este cauzat\u0103 de muta\u021bii \u00een gena GAA, care determin\u0103 deficitul enzimei lizozomale alfa-glucozidaz\u0103 acid\u0103, esen\u021bial\u0103 pentru degradarea glicogenului.<\/p>\n<\/p>\n<p>Acumularea progresiv\u0103 de glicogen \u00een mu\u0219chiul scheletic, cardiac \u0219i \u00een alte \u021besuturi determin\u0103 forme clinice variabile, de la forme infantile severe cu cardiomiopatie \u0219i insuficien\u021b\u0103 respiratorie, p\u00e2n\u0103 la forme cu debut la adult, caracterizate prin sl\u0103biciune muscular\u0103 lent progresiv\u0103.<\/p>\n<\/p>\n<p>Tehnologia NGS permite secven\u021bierea complet\u0103 a genei GAA, identific\u00e2nd muta\u021bii punctiforme, dele\u021bii\/inser\u021bii mici (indel-uri) \u0219i variante rare asociate diferitelor fenotipuri.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<p><strong>Form\u0103 infantil\u0103 clasic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>debut \u00een primele luni de via\u021b\u0103;<\/li>\n<li>cardiomiopatie hipertrofic\u0103 sever\u0103;<\/li>\n<li>hipotonie marcat\u0103 (\u201efloppy baby\u201d);<\/li>\n<li>insuficien\u021b\u0103 respiratorie progresiv\u0103;<\/li>\n<li>hepatomegalie;<\/li>\n<li>evolu\u021bie rapid\u0103, letal\u0103 \u00een primul an de via\u021b\u0103 f\u0103r\u0103 tratament.<\/li>\n<\/ul>\n<p><strong>Form\u0103 infantil\u0103 non-clasic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>debut mai tardiv;<\/li>\n<li>sl\u0103biciune muscular\u0103 axial\u0103 \u0219i afectare respiratorie;<\/li>\n<li>afectare cardiac\u0103 variabil\u0103, adesea mai pu\u021bin sever\u0103.<\/li>\n<\/ul>\n<p><strong>Form\u0103 cu debut tardiv (juvenil\/adult):<\/strong><\/p>\n<\/p>\n<ul>\n<li>sl\u0103biciune muscular\u0103 lent progresiv\u0103, predominant la nivelul centurii pelvine \u0219i scapulare;<\/li>\n<li>dificult\u0103\u021bi la urcat sc\u0103ri, ridicarea din \u0219ezut sau mersul pe distan\u021be lungi;<\/li>\n<li>afectare respiratorie (sc\u0103derea capacit\u0103\u021bii vitale), uneori preced\u00e2nd afectarea motorie;<\/li>\n<li>fatigabilitate cronic\u0103;<\/li>\n<li>crampe \u0219i dureri musculare;<\/li>\n<li>diagnostic \u00eent\u00e2rziat, adesea confundat cu distrofii musculare.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n<ul>\n<li>Neurologilor, pediatrilor, medicilor de medicin\u0103 intern\u0103 \u0219i geneticienilor;<\/li>\n<li>Nou-n\u0103scu\u021bilor sau copiilor cu suspiciune de glicogenez\u0103 de tip II;<\/li>\n<li>Adul\u021bilor cu sl\u0103biciune muscular\u0103 inexplicabil\u0103 sau afectare respiratorie necorelat\u0103 cu boala pulmonar\u0103;<\/li>\n<li>Persoanelor cu istoric familial de boal\u0103 Pompe (mo\u0219tenire autozomal recesiv\u0103).<\/li>\n<\/ul>\n<p><strong>Metodologie<\/strong><\/p>\n<\/p>\n<ul>\n<li>Secven\u021biere NGS complet\u0103 a genei GAA;<\/li>\n<li>Analiza variantelor patogene, probabil patogene \u0219i VUS (variant of uncertain significance);<\/li>\n<li>Detec\u021bia micilor dele\u021bii\/duplica\u021bii;<\/li>\n<li>Poate fi completat\u0103 prin dozarea activit\u0103\u021bii enzimatice GAA pentru confirmare.<\/li>\n<\/ul>\n<p><strong>Beneficii clinice<\/strong><\/p>\n<\/p>\n<ul>\n<li>Confirmarea diagnosticului molecular, care permite ini\u021bierea rapid\u0103 a terapiei enzimatice substitutive (ERT);<\/li>\n<li>Stabilirea prognosticului \u00een func\u021bie de tipul de muta\u021bie;<\/li>\n<li>Identificarea purt\u0103torilor \u00een cadrul familiei;<\/li>\n<li>Ghidarea managementului respirator \u0219i neuromuscular pe termen lung.<\/li>\n<\/ul>\n<p><strong>Limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Tehnologia NGS nu detecteaz\u0103 \u00eentotdeauna dele\u021biile\/duplica\u021biile mari, caz \u00een care poate fi necesar\u0103 analiza MLPA;<\/li>\n<li>Variantele cu semnifica\u021bie incert\u0103 (VUS) necesit\u0103 corelare clinic\u0103 \u0219i enzimatic\u0103;<\/li>\n<li>Testul nu \u00eenlocuie\u0219te determinarea activit\u0103\u021bii enzimatice GAA, ci o completeaz\u0103.<\/li>\n<\/ul>\n<p><strong>Recoltare<\/strong><\/p>\n<\/p>\n<p>Recoltare \u00een vacutainer cu dop mov (EDTA) \u2013 2 \u00d7 6 ml s\u00e2nge integral.<\/p>\n<\/p>\n<p><strong>Condi\u021bii<\/strong><\/p>\n<\/p>\n<p>Transportul \u0219i manipularea trebuie efectuate corespunz\u0103tor, pentru a men\u021bine integritatea ADN-ului.<\/p>\n<\/p>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Dozarea activit\u0103\u021bii enzimei GAA (diagnostic enzimatic);<\/li>\n<li>Paneluri neuromusculare \u00een caz de fenotip atipic;<\/li>\n<li>Consiliere genetic\u0103 familial\u0103;<\/li>\n<li>Evaluarea func\u021biei respiratorii \u0219i cardiace.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Test genetic molecular prin secven\u021biere NGS pentru identificarea muta\u021biilor \u00een gena GAA, responsabil\u0103 de boala Pompe (glicogenoza de tip II) \u2013 o afec\u021biune metabolic\u0103 rar\u0103, caracterizat\u0103 prin deficit de alfa-glucozidaz\u0103 acid\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-27380","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<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Test genetic molecular prin secven\u021biere NGS pentru identificarea muta\u021biilor \u00een gena GAA, responsabil\u0103 de boala Pompe (glicogenoza de tip II) \u2013 o afec\u021biune metabolic\u0103 rar\u0103, caracterizat\u0103 prin deficit de alfa-glucozidaz\u0103 acid\u0103.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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