{"id":26778,"date":"2025-06-24T14:22:32","date_gmt":"2025-06-24T12:22:32","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/sangene-newborn\/"},"modified":"2026-02-27T17:53:23","modified_gmt":"2026-02-27T15:53:23","slug":"sangene-newborn","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/sangene-newborn\/","title":{"rendered":"NewBorn \u2013 screening genetic pentru boli metabolice la nou-nascut"},"content":{"rendered":"<p><strong>NewBorn-Screening genetic boli metabolice nou-n\u0103scut <\/strong>este un test genetic avansat, bazat pe <strong>secven\u021bierea exomului (Whole Exome Sequencing \u2013 WES)<\/strong>, care identific\u0103 variante genetice asociate bolilor <strong>cu debut \u00een copil\u0103rie \u0219i r\u0103spuns terapeutic specific<\/strong>.<\/p>\n<\/p>\n<p>P\u00e2n\u0103 la <strong>9,4% dintre nou-n\u0103scu\u021bi<\/strong> pot prezenta modific\u0103ri genetice relevante pentru afec\u021biuni tratabile dac\u0103 sunt descoperite precoce.<\/p>\n<\/p>\n<p>Testul analizeaz\u0103 <strong>407 gene<\/strong>, acoperind o gam\u0103 larg\u0103 de tulbur\u0103ri genetice \u0219i metabolice care pot fi prevenite sau tratate timpuriu, inclusiv:<\/p>\n<\/p>\n<ul>\n<li><strong>boli metabolice<\/strong> (ex. galactozemie, deficit de acil-CoA dehidrogenaz\u0103, fenilcetonurie);<\/li>\n<li><strong>tulbur\u0103ri endocrine<\/strong> (hiperplazie suprarenal\u0103 congenital\u0103, hipotiroidism genetic);<\/li>\n<li><strong>afec\u021biuni neurologice<\/strong> (epilepsii genetice, ataxii congenitale, distrofii musculare);<\/li>\n<li><strong>boli hematologice<\/strong> (trombocitopenii congenitale, hemofilii, anemii ereditare);<\/li>\n<li><strong>afec\u021biuni cardiace genetice<\/strong> (sindroame QT lung\/scurt, cardiomiopatii, aritmii ereditare);<\/li>\n<li><strong>sindroame genetice complexe<\/strong> (Alport, Alstr\u00f6m, Noonan, Li-Fraumeni, Peutz-Jeghers);<\/li>\n<li><strong>boli imunologice primare<\/strong> \u0219i <strong>deficite enzimatice-metabolice<\/strong> rare.<\/li>\n<\/ul>\n<p>Dintre acestea, <strong>peste 250 de afec\u021biuni<\/strong> pot fi gestionate eficient prin:<\/p>\n<\/p>\n<ul>\n<li>adaptarea dietei,<\/li>\n<li>suplimentare metabolic\u0103,<\/li>\n<li>interven\u021bie medical\u0103 timpurie sau monitorizare specific\u0103 pentru prevenirea complica\u021biilor severe.<\/li>\n<\/ul>\n<p><strong>Indica\u021bii clinice<\/strong><\/p>\n<\/p>\n<p>Testul <strong>NewBorn-Screening genetic boli metabolice nou-n\u0103scut <\/strong>este recomandat pentru:<\/p>\n<\/p>\n<ul>\n<li><strong>to\u021bi nou-n\u0103scu\u021bii<\/strong>, chiar \u0219i \u00een absen\u021ba simptomelor clinice, ca instrument de <strong>screening preventiv<\/strong>;<\/li>\n<li>copiii cu <strong>rezultate pozitive la screeningul metabolic clasic<\/strong> (din c\u0103lc\u00e2i) pentru confirmare genetic\u0103;<\/li>\n<li>nou-n\u0103scu\u021bii proveni\u021bi din <strong>familii cu istoric familial de boli genetice<\/strong> <strong>rare sau metabolice<\/strong>;<\/li>\n<li>cazurile de <strong>\u00eent\u00e2rziere \u00een dezvoltare neexplicat\u0103<\/strong>, hipotonie sau tulbur\u0103ri metabolice suspecte;<\/li>\n<li>p\u0103rin\u021bii care doresc o <strong>abordare proactiv\u0103 a s\u0103n\u0103t\u0103\u021bii copilului<\/strong> prin personalizarea dietei, a vaccin\u0103rilor \u0219i a monitoriz\u0103rii medicale.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li><strong>Tehnologie:<\/strong> secven\u021bierea exomului (Whole Exome Sequencing \u2013 WES);<\/li>\n<li><strong>Gene analizate:<\/strong> 407 de gene relevante pentru afec\u021biuni genetice cu debut pediatric;<\/li>\n<li><strong>Interpretare:<\/strong> analiz\u0103 bioinformatic\u0103 avansat\u0103, filtrare \u0219i validare a variantelor clinice relevante;<\/li>\n<li><strong>Raport final:<\/strong> include toate variantele cu semnifica\u021bie patogen\u0103 sau posibil patogen\u0103, precum \u0219i recomand\u0103ri medicale pentru urm\u0103torii pa\u0219i (consult genetic, confirmarea diagnosticului, interven\u021bii).<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Detecteaz\u0103 <strong>boli genetice ac\u021bionabile<\/strong> \u00eenainte de debutul simptomelor.<\/li>\n<li>Permite <strong>personalizarea dietei \u0219i terapiei<\/strong> din primele zile de via\u021b\u0103.<\/li>\n<li>Poate preveni complica\u021biile severe \u0219i spitaliz\u0103rile recurente.<\/li>\n<li>Sus\u021bine un <strong>plan medical individualizat<\/strong> bazat pe genetica copilului.<\/li>\n<li>Este complementar screeningului metabolic standard (testul din c\u0103lc\u00e2i).<\/li>\n<li>Ofer\u0103 p\u0103rin\u021bilor <strong>lini\u0219te \u0219i claritate<\/strong> privind s\u0103n\u0103tatea viitoare a copilului.<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103:<\/strong> s\u00e2nge periferic sau saliv\u0103<\/p>\n<\/p>\n<p><strong>Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<\/p>\n<p><strong>Recipient:<\/strong> eprubet\u0103 EDTA (s\u00e2nge) \/ kit special de recoltare a salivei.<\/p>\n<\/p>\n<p><strong>Condi\u021bii de recoltare:<\/strong> oric\u00e2nd dup\u0103 na\u0219tere; recoltarea salivei se poate face \u0219i acas\u0103.<\/p>\n<\/p>\n<p><strong>Transport:<\/strong> la temperatura camerei; se evit\u0103 expunerea la temperaturi extreme.<\/p>\n<\/p>\n<p><strong>Timp de eliberare a rezultatului:<\/strong> 4\u20136 s\u0103pt\u0103m\u00e2ni.<\/p>\n<\/p>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li><strong>Confirmare genetic\u0103 specific\u0103<\/strong> pentru variantele identificate (prin Sanger sau panel \u021bintit)<\/li>\n<li><strong>Screening metabolic neonatal clasic<\/strong> (testul Guthrie din c\u0103lc\u00e2i)<\/li>\n<li><strong>Panel genetic parental<\/strong> (op\u021bional, pentru identificarea statusului de purt\u0103tor)<\/li>\n<li><strong>Analiza de microbiom intestinal neonatal<\/strong> (pentru sus\u021binerea func\u021biei metabolice \u0219i imunitare)<\/li>\n<li><strong>Profil genetic farmacogenomic pediatric<\/strong>, pentru adaptarea tratamentelor ulterioare<\/li>\n<\/ul>\n<p>Pentru interpretarea rezultatelor de genetic\u0103, v\u0103 pute\u021bi adresa speciali\u0219tilor no\u0219tri. Ei v\u0103 pot ghida \u0219i v\u0103 pot oferi informa\u021bii suplimentare despre testele genetice din oferta noastr\u0103. Consultul genetic se poate programa at\u00e2t \u00eenainte, c\u00e2t \u0219i dup\u0103 efectuarea testului. Consultul genetic de dup\u0103 test este <strong>GRATUIT<\/strong> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/p>\n<\/p>\n<p><strong>E-mail:<\/strong> <strong><a href=\"mailto:consult.genetic@clinica-sante.ro\" rel=\"noopener noreferrer\" target=\"_blank\">consult.genetic@clinica-sante.ro<\/a><\/strong><\/p>\n<\/p>\n<p><strong>Telefon: <\/strong>0773.975.894 <\/p>\n<\/p>\n<p><strong>Program:<\/strong> Luni\u2013Vineri<\/p>\n<\/p>\n<p><strong>Orele: <\/strong>8:00\u201316:30<\/p>\n<\/p>\n<p><strong>Call Center:<\/strong> *8787<\/p>\n<\/p>\n<\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>SanGene NewBorn<\/strong> este un test de <strong>screening genetic neonatal<\/strong> care analizeaz\u0103 407 gene implicate \u00een peste <strong>390 de afec\u021biuni genetice cu debut \u00een copil\u0103rie<\/strong>, dintre care peste <strong>65% pot fi gestionate prin m\u0103suri concrete<\/strong>: diet\u0103, suplimentare metabolic\u0103, tratament, monitorizare timpurie. Testul are scop <strong>preventiv<\/strong> \u0219i permite personalizarea \u00eengrijirii medicale \u00eenc\u0103 din primele zile de via\u021b\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-26778","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\/26778","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=26778"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26778"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26778"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26778"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}