{"id":27554,"date":"2025-06-24T15:42:11","date_gmt":"2025-06-24T13:42:11","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/analiza-moleculara-a-numarului-de-copii-smn1-si-smn2-atrofia-musculara-spinala\/"},"modified":"2026-02-27T18:04:01","modified_gmt":"2026-02-27T16:04:01","slug":"analiza-moleculara-a-numarului-de-copii-smn1-si-smn2-atrofia-musculara-spinala","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-moleculara-a-numarului-de-copii-smn1-si-smn2-atrofia-musculara-spinala\/","title":{"rendered":"Analiza moleculara a numarului de copii SMN1 si SMN2 (Atrofia musculara spinala)"},"content":{"rendered":"<p><strong>Atrofia muscular\u0103 spinal\u0103 (SMA)<\/strong> este o afec\u021biune genetic\u0103 autosomal recesiv\u0103 cauzat\u0103 \u00een majoritatea cazurilor de dele\u021bia homozigot\u0103 a genei SMN1, responsabil\u0103 de sinteza proteinei SMN (Survival Motor Neuron). Lipsa acestei proteine determin\u0103 degenerarea neuronilor motori din m\u0103duva spin\u0103rii, duc\u00e2nd la sl\u0103biciune muscular\u0103 progresiv\u0103 \u0219i atrofie.<\/p>\n<\/p>\n<p>Testul evalueaz\u0103 simultan \u0219i num\u0103rul de copii ale genei SMN2, al c\u0103rei nivel poate modula severitatea bolii \u2013 mai multe copii ale genei SMN2 se asociaz\u0103 cu forme clinice mai u\u0219oare.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<ul>\n<li>atrofie muscular\u0103 spinal\u0103 (SMA) tip I\u2013IV<\/li>\n<li>sl\u0103biciune muscular\u0103 progresiv\u0103, hipotonie, dificult\u0103\u021bi respiratorii<\/li>\n<li>\u00eent\u00e2rzieri motorii sau pierderea abilit\u0103\u021bilor motorii dob\u00e2ndite<\/li>\n<li>antecedente familiale de SMA sau suspiciune clinic\u0103 de boal\u0103 neuromuscular\u0103 ereditar\u0103<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>nou-n\u0103scu\u021bi, sugari sau copii cu suspiciune de SMA<\/li>\n<li>adul\u021bi cu simptomatologie compatibil\u0103 cu forme tardive de SMA<\/li>\n<li>persoane cu antecedente familiale de SMA, pentru identificarea purt\u0103torilor<\/li>\n<li>cupluri aflate \u00een consiliere genetic\u0103 preconcep\u021bional\u0103 sau prenatal\u0103<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p>Metod\u0103: MLPA (Multiplex Ligation-dependent Probe Amplification)<\/p>\n<\/p>\n<p>Aceast\u0103 tehnic\u0103 molecular\u0103 permite identificarea dele\u021biilor sau duplic\u0103rilor la nivelul genelor SMN1 \u0219i SMN2 prin compararea intensit\u0103\u021bii semnalelor de amplificare cu cele ale unui e\u0219antion de referin\u021b\u0103.<\/p>\n<\/p>\n<p>Rezultatele ofer\u0103 num\u0103rul exact de copii SMN1 \u0219i SMN2, permi\u021b\u00e2nd diferen\u021bierea \u00eentre indivizii afecta\u021bi, purt\u0103tori \u0219i cei s\u0103n\u0103to\u0219i.<\/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 al SMA<\/li>\n<li>identific\u0103 purt\u0103torii asimptomatici ai dele\u021biei SMN1<\/li>\n<li>permite estimarea severit\u0103\u021bii clinice \u00een func\u021bie de num\u0103rul de copii SMN2<\/li>\n<li>ofer\u0103 informa\u021bii esen\u021biale pentru consilierea genetic\u0103 \u0219i planificarea familial\u0103<\/li>\n<li>permite testarea prenatal\u0103 sau preimplanta\u021bional\u0103 \u00een familiile cu risc<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>testul MLPA nu identific\u0103 muta\u021bii punctiforme (rare) ale genei SMN1; pentru acestea poate fi necesar\u0103 secven\u021bierea complet\u0103<\/li>\n<li>nu poate stabili cu certitudine localizarea pe cromozomi diferi\u021bi a copiilor genei SMN1 (cis\/trans)<\/li>\n<li>interpretarea corect\u0103 necesit\u0103 corelare clinic\u0103 \u0219i genetic\u0103 familial\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere complet\u0103 SMN1 (pentru muta\u021bii punctiforme rare)<\/li>\n<li>panel boli neuromusculare<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul determin\u0103 num\u0103rul de copii ale genelor SMN1 \u0219i SMN2, implicate \u00een atrofia muscular\u0103 spinal\u0103 (SMA) \u2013 o boal\u0103 neuromuscular\u0103 ereditar\u0103 sever\u0103.<\/p>\n<\/p>\n<p><strong>Gene analizate:<\/strong> SMN1, SMN2<\/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-27554","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\/27554","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=27554"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27554"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27554"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}