{"id":26985,"date":"2025-06-24T14:35:28","date_gmt":"2025-06-24T12:35:28","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-boala-alzheimer\/"},"modified":"2026-02-27T17:55:53","modified_gmt":"2026-02-27T15:55:53","slug":"panel-genetic-boala-alzheimer","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-boala-alzheimer\/","title":{"rendered":"Panel genetic Boala Alzheimer"},"content":{"rendered":"<p><strong>Boala Alzheimer<\/strong> este o afec\u021biune neurodegenerativ\u0103 progresiv\u0103 caracterizat\u0103 prin declin cognitiv, pierderi de memorie \u0219i modific\u0103ri comportamentale. Variantele genetice din genele APP, PSEN1 \u0219i PSEN2 sunt asociate cu forme familiale precoce, care debuteaz\u0103 de obicei \u00eenainte de v\u00e2rsta de 65 de ani.<\/p>\n<\/p>\n<p>Panelul ofer\u0103 detec\u021bie molecular\u0103 precis\u0103 pentru consiliere, management \u0219i planificare familial\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>pierderi de memorie progresive<\/li>\n<li>dificult\u0103\u021bi de concentrare \u0219i ra\u021bionament<\/li>\n<li>modific\u0103ri comportamentale \u0219i psihologice<\/li>\n<li>pierderea capacit\u0103\u021bii de orientare \u00een timp \u0219i spa\u021biu<\/li>\n<li>tulbur\u0103ri ale limbajului \u0219i ale abilit\u0103\u021bilor cognitive<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>persoanelor cu suspiciune de Boal\u0103 Alzheimer familial\u0103 sau precoce<\/li>\n<li>familiilor cu istoric de Alzheimer \u00eenainte de 65 de ani<\/li>\n<li>clinicienilor specializa\u021bi \u00een neurologie, genetic\u0103 medical\u0103 sau geriatrie<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere NGS acoperind exoni \u0219i regiuni critice de reglare<\/li>\n<li>detecteaz\u0103 variante punctiforme, dele\u021bii sau inser\u021bii \u00een genele APP, PSEN1 \u0219i PSEN2<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>permite diagnostic molecular precoce \u0219i precis<\/li>\n<li>ofer\u0103 ghid pentru consiliere genetic\u0103 familial\u0103<\/li>\n<li>contribuie la monitorizarea \u0219i managementul individualizat al pacien\u021bilor<\/li>\n<li>ajut\u0103 la identificarea persoanelor cu risc crescut<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>nu detecteaz\u0103 formele sporadice de Alzheimer<\/li>\n<li>nu prezice cu certitudine debutul bolii, ci doar predispozi\u021bia genetic\u0103<\/li>\n<li>variantele de semnifica\u021bie incert\u0103 (VUS) necesit\u0103 reevaluare \u0219i corelare clinic\u0103<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2ngele se recolteaz\u0103 \u00een vacutainer cu EDTA<\/li>\n<li>nu sunt necesare condi\u021bii speciale de post<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>evaluare neurocognitiv\u0103 \u0219i RMN cerebral<\/li>\n<li>analize biomarkeri cerebrospinali (ex. beta-amiloid, tau)<\/li>\n<li>teste genetice complementare pentru rudele de gradul I<\/li>\n<li>consiliere genetic\u0103 pre- \u0219i post-test<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Acest panel NGS permite analiza simultan\u0103 a 3 gene implicate \u00een Boala Alzheimer familial\u0103: APP, PSEN1, PSEN2.<\/p>\n<\/p>\n<p>Testul identific\u0103 variante genetice asociate cu formele familiale \u0219i precoce de Alzheimer, contribuind la diagnostic \u0219i consiliere genetic\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-26985","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","pa_medical-conditions-boala-alzheimer","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\/26985","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=26985"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26985"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26985"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26985"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}