{"id":26927,"date":"2025-06-24T15:31:58","date_gmt":"2025-06-24T12:31:58","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/smn-1-testare-mlpa-exonii-7-8\/"},"modified":"2026-06-16T11:28:52","modified_gmt":"2026-06-16T08:28:52","slug":"smn-1-testare-mlpa-exonii-7-8","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/smn-1-testare-mlpa-exonii-7-8\/","title":{"rendered":"Gena SMN1 &#8211; Atrofia musculara spinala (testare MLPA exonii 7-8)"},"content":{"rendered":"<p>Atrofia muscular\u0103 spinal\u0103 (SMA) este o boal\u0103 genetic\u0103 neuromuscular\u0103 sever\u0103, determinat\u0103 \u00een majoritatea cazurilor de dele\u021bia homozigot\u0103 a exonului 7 din gena <strong>SMN1<\/strong>. Aceast\u0103 modificare determin\u0103 sc\u0103derea sau absen\u021ba proteinei SMN (Survival Motor Neuron), esen\u021bial\u0103 pentru func\u021bionarea neuronilor motori.<\/p>\n<p>Deficitul proteinei SMN duce la degenerarea progresiv\u0103 a neuronilor motori din m\u0103duva spin\u0103rii, ceea ce se manifest\u0103 prin sl\u0103biciune muscular\u0103 progresiv\u0103, hipotonie sever\u0103 \u0219i afectarea func\u021biilor motorii \u0219i respiratorii.<\/p>\n<p>Testarea MLPA pentru exonii 7-8 ai genei SMN1 reprezint\u0103 standardul actual pentru detectarea varia\u021biilor de num\u0103r de copii, fiind utilizat\u0103 at\u00e2t \u00een diagnostic, c\u00e2t \u0219i \u00een screeningul purt\u0103torilor.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Suspiciune clinic\u0103 de atrofie muscular\u0103 spinal\u0103<\/li>\n<li>Hipotonie neonatal\u0103 sau infantil\u0103<\/li>\n<li>Sl\u0103biciune muscular\u0103 progresiv\u0103<\/li>\n<li>Istoric familial de SMA<\/li>\n<li>Screening de purt\u0103tor genetic (carrier screening)<\/li>\n<li>Consiliere genetic\u0103 preconcep\u021bional\u0103 \u0219i prenatal\u0103<\/li>\n<li>Evaluarea riscului genetic la cupluri<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Nou-n\u0103scu\u021bi \u0219i copii cu semne neuromusculare<\/li>\n<li>Adul\u021bi cu istoric familial de boli genetice neuromusculare<\/li>\n<li>Cupluri care planific\u0103 o sarcin\u0103<\/li>\n<li>Persoane din familii cu SMA confirmat\u0103<\/li>\n<li>Pacien\u021bi \u00een programe de consiliere genetic\u0103 reproductiv\u0103<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>MLPA (Multiplex Ligation-dependent Probe Amplification)<\/h3>\n<ul>\n<li>Analiza num\u0103rului de copii pentru exonii 7\u20138 ai genei <strong>SMN1<\/strong><\/li>\n<li>Detectarea dele\u021biilor\/duplica\u021biilor genetice<\/li>\n<li>Metod\u0103 standard interna\u021bional\u0103 pentru diagnosticul SMA<\/li>\n<li>Interpretare genetic\u0103 conform ghidurilor clinice de genetic\u0103 medical\u0103<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Diagnostic genetic precis al SMA<\/li>\n<li>Identificarea purt\u0103torilor asimptomatici<\/li>\n<li>Evaluarea riscului reproductiv<\/li>\n<li>Sus\u021binerea consilierii genetice familiale<\/li>\n<li>Permite decizii reproductive informate<\/li>\n<li>Contribuie la diagnosticul diferen\u021bial al bolilor neuromusculare<\/li>\n<li>Important pentru ini\u021bierea precoce a terapiilor moderne pentru SMA<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<p>Pentru o evaluare complet\u0103 a riscului genetic \u0219i a bolilor neuromusculare se recomand\u0103 asocierea cu:<\/p>\n<ul>\n<li>Panel boli neuromusculare (NGS) ( https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-boli-neuromusculare-neuromuscular-panel\/ )<\/li>\n<li>Carrier screening extins ( https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients\/ )<\/li>\n<li>CK (creatin-kinaz\u0103 seric\u0103) ( https:\/\/www.clinica-sante.com\/ro\/analize-biochimie\/creatinkinaza-ck\/ )<\/li>\n<li>EMG (electromiografie)<\/li>\n<li>Consiliere genetic\u0103 specializat\u0103<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<ul>\n<li>2 \u00d7 6 ml s\u00e2nge venos periferic<\/li>\n<li>Tuburi cu anticoagulant <strong>EDTA<\/strong><\/li>\n<li>Transport conform protocolului laboratorului Bioarray<\/li>\n<li>Nu necesit\u0103 repaus alimentar<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Test genetic SMN1<\/li>\n<li>Analiz\u0103 SMA (Spinal Muscular Atrophy)<\/li>\n<li>Test dele\u021bie SMN1 exon 7\u20138<\/li>\n<li>Carrier screening SMA<\/li>\n<li>MLPA SMN1<\/li>\n<li>Screening atrofie muscular\u0103 spinal\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Test genetic care analizeaz\u0103 gena <strong>SMN1<\/strong> pentru identificarea dele\u021biilor\/duplic\u0103rilor exonilor 7\u20138, principala cauz\u0103 a atrofiei musculare spinale (SMA).<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3167,2876],"product_tag":[],"class_list":["post-26927","product","type-product","status-publish","product_cat-analize","product_cat-fertilitate-infertilitate-fiv","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 care analizeaz\u0103 gena SMN1 pentru identificarea dele\u021biilor\/duplic\u0103rilor exonilor 7\u20138, principala cauz\u0103 a atrofiei musculare 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