{"id":27109,"date":"2025-06-24T14:42:42","date_gmt":"2025-06-24T12:42:42","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/secventiere-ngs-gena-abcd1\/"},"modified":"2026-02-27T17:57:39","modified_gmt":"2026-02-27T15:57:39","slug":"secventiere-ngs-gena-abcd1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/secventiere-ngs-gena-abcd1\/","title":{"rendered":"Secventiere NGS gena ABCD1"},"content":{"rendered":"<p><strong>Gena ABCD1<\/strong> codific\u0103 o protein\u0103 peroxizomal\u0103 esen\u021bial\u0103 pentru transportul acizilor gra\u0219i cu lan\u021b foarte lung (VLCFA) \u00een interiorul peroxizomilor, unde sunt degrada\u021bi prin \u03b2-oxidare.<\/p>\n<\/p>\n<p>Muta\u021biile patogene \u00een ABCD1 determin\u0103 acumularea acestor acizi gra\u0219i \u00een creier, m\u0103duva spin\u0103rii \u0219i cortexul suprarenalian, cauz\u00e2nd adrenoleucodistrofia X-linkat\u0103 (X-ALD) \u2013 o boal\u0103 progresiv\u0103 cu manifest\u0103ri neurologice \u0219i endocrine variabile.<\/p>\n<\/p>\n<p>Testul permite identificarea muta\u021biilor punctiforme, dele\u021biilor sau inser\u021biilor mici, oferind informa\u021bii genetice esen\u021biale pentru diagnostic, consiliere familial\u0103 \u0219i decizii terapeutice.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>adrenoleucodistrofie legat\u0103 de X (X-ALD)<\/li>\n<li>adrenomieloneuropatie (AMN)<\/li>\n<li>insuficien\u021b\u0103 suprarenalian\u0103 izolat\u0103 (Addison X-linkat)<\/li>\n<li>simptome posibile:<\/li>\n<li>tulbur\u0103ri de mers, sl\u0103biciune progresiv\u0103 a membrelor inferioare<\/li>\n<li>tulbur\u0103ri de vedere \u0219i auz<\/li>\n<li>insuficien\u021b\u0103 adrenal\u0103 primar\u0103<\/li>\n<li>afectare cognitiv\u0103 progresiv\u0103 la copii sau adul\u021bi<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bi (b\u0103rba\u021bi sau femei purt\u0103toare) cu suspiciune clinic\u0103 de adrenoleucodistrofie X-linkat\u0103<\/li>\n<li>persoane cu antecedente familiale de X-ALD sau adrenomieloneuropatie<\/li>\n<li>cupluri aflate \u00een consiliere genetic\u0103 sau evaluare de risc reproductiv<\/li>\n<li>pacien\u021bi cu insuficien\u021b\u0103 suprarenalian\u0103 inexplicabil\u0103<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p>Metod\u0103: Secven\u021biere de nou\u0103 genera\u021bie (NGS)<\/p>\n<\/p>\n<p>Analiza acoper\u0103 \u00eentregul exon \u0219i regiunile limitrofe intron-exon ale genei ABCD1, detect\u00e2nd muta\u021biile patogene punctiforme \u0219i inser\u021biile\/<strong>d<\/strong>ele\u021biile mici.<\/p>\n<\/p>\n<p>Confirmarea variantelor clinice relevante se realizeaz\u0103 prin Sanger sequencing (dup\u0103 caz).<\/p>\n<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirm\u0103 diagnosticul molecular de X-ALD<\/li>\n<li>permite identificarea purt\u0103toarelor \u00een familiile afectate<\/li>\n<li>ghideaz\u0103 monitorizarea clinic\u0103 precoce \u0219i ini\u021bierea tratamentului substitutiv pentru insuficien\u021ba suprarenalian\u0103<\/li>\n<li>ofer\u0103 informa\u021bii pentru consiliere genetic\u0103 \u0219i planificare familial\u0103<\/li>\n<li>sus\u021bine decizii terapeutice personalizate (ex. transplant de m\u0103duv\u0103 osoas\u0103, monitorizare neurologic\u0103)<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>testul NGS nu detecteaz\u0103 rearanjamente mari sau dele\u021bii complexe ce pot necesita metode suplimentare (ex. MLPA)<\/li>\n<li>nu poate evalua mozaicismul la nivel sc\u0103zut<\/li>\n<li>interpretarea variantelor de semnifica\u021bie incert\u0103 necesit\u0103 corelare clinic\u0103 \u0219i bioinformatic\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>determinare acizi gra\u0219i cu lan\u021b foarte lung (VLCFA) \u00een plasm\u0103<\/li>\n<li>test MLPA ABCD1 (pentru detec\u021bia dele\u021biilor\/duplica\u021biilor mari)<\/li>\n<li>consiliere genetic\u0103 familial\u0103<\/li>\n<li>panel boli peroxizomale (pentru diagnostic diferen\u021bial)<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiza const\u0103 \u00een <strong>secven\u021bierea genei ABCD1<\/strong> prin tehnologia Next Generation Sequencing (NGS), cu scopul de a identifica muta\u021biile asociate adrenoleucodistrofiei legate de cromozomul X (X-ALD). Aceasta este o boal\u0103 metabolic\u0103 ereditar\u0103 legat\u0103 de cromozomul X, \u00een care organismul nu poate descompune anumite gr\u0103simi cu lan\u021b foarte lung. Aceste gr\u0103simi se acumuleaz\u0103 treptat \u00een creier \u0219i \u00een glandele suprarenale, unde afecteaz\u0103 func\u021bionarea nervilor \u0219i produc\u021bia de hormoni. Boala poate duce la probleme motorii, dificult\u0103\u021bi de mers, tulbur\u0103ri de vedere sau auz \u0219i, uneori, la insuficien\u021b\u0103 suprarenalian\u0103.<\/p>\n<\/p>\n<p><strong>Gen\u0103 analizat\u0103:<\/strong> ABCD1<\/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":{"0":"post-27109","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","9":"first","10":"instock","11":"sale","12":"virtual","13":"purchasable","14":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27109","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=27109"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27109"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27109"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27109"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}