{"id":27317,"date":"2025-06-24T15:54:36","date_gmt":"2025-06-24T12:54:36","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/carrier-screening-avansat-bazat-pe-exom-cu-analiza-a-2423-gene\/"},"modified":"2026-06-12T14:29:02","modified_gmt":"2026-06-12T11:29:02","slug":"carrier-screening-avansat-bazat-pe-exom-cu-analiza-a-2423-gene","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/carrier-screening-avansat-bazat-pe-exom-cu-analiza-a-2423-gene\/","title":{"rendered":"Carrier Screening Avansat bazat pe Exom (cu analiza a &gt; 2000 gene)"},"content":{"rendered":"<p>Carrier Screening Avansat bazat pe Exom utilizeaz\u0103 tehnologia de secven\u021biere de nou\u0103 genera\u021bie (NGS) pentru analiza extins\u0103 a regiunilor codante ale genomului (exomul) \u0219i a unui panel de peste 2.000 de gene implicate \u00een:<\/p>\n<ul>\n<li>Boli metabolice ereditare<\/li>\n<li>Fibroz\u0103 chistic\u0103<\/li>\n<li>Atrofie muscular\u0103 spinal\u0103<\/li>\n<li>Hemoglobinopatii \u0219i talasemii<\/li>\n<li>Imunodeficien\u021be primare<\/li>\n<li>Boli neuromusculare<\/li>\n<li>Tulbur\u0103ri neurodezvoltative<\/li>\n<li>Surditate genetic\u0103<\/li>\n<li>Boli cardiovasculare ereditare<\/li>\n<li>Afec\u021biuni endocrine \u0219i metabolice<\/li>\n<li>Boli dermatologice genetice<\/li>\n<li>Sindroame de afectare multisistemic\u0103<\/li>\n<\/ul>\n<p>Testul permite identificarea purt\u0103torilor heterozigo\u021bi pentru afec\u021biuni autozomal recesive \u0219i a variantelor relevante pentru boli legate de cromozomul X. Analiza ofer\u0103 o evaluare mult mai extins\u0103 comparativ cu panelurile standard de carrier screening.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<h3>Se recomand\u0103:<\/h3>\n<ul>\n<li>Cuplurilor care planific\u0103 o sarcin\u0103.<\/li>\n<li>Cuplurilor aflate \u00een programe de fertilizare in vitro (FIV).<\/li>\n<li>Persoanelor cu antecedente familiale de boli genetice.<\/li>\n<li>Cuplurilor consangvine.<\/li>\n<li>Persoanelor care doresc o evaluare genetic\u0103 reproductiv\u0103 extins\u0103.<\/li>\n<li>Cuplurilor cu istoric de avorturi spontane recurente sau pierderi de sarcin\u0103.<\/li>\n<li>Cuplurilor care au avut anterior un copil afectat de o boal\u0103 genetic\u0103.<\/li>\n<li>Donatorilor de ovocite, sperm\u0103 sau embrioni.<\/li>\n<li>Persoanelor care apar\u021bin unor grupuri etnice cu risc crescut pentru anumite boli genetice.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Femeilor \u0219i b\u0103rba\u021bilor care \u00ee\u0219i doresc copii.<\/li>\n<li>Cuplurilor \u00eenainte de concep\u021bie.<\/li>\n<li>Cuplurilor aflate \u00een investiga\u021bii de infertilitate.<\/li>\n<li>Pacien\u021bilor care doresc reducerea riscului de transmitere a bolilor genetice c\u0103tre descenden\u021bi.<\/li>\n<li>Clinicilor de reproducere asistat\u0103 \u0219i medicilor specializa\u021bi \u00een medicin\u0103 reproductiv\u0103.<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>Testul utilizeaz\u0103:<\/h3>\n<ul>\n<li>Secven\u021biere de nou\u0103 genera\u021bie (NGS \u2013 Next Generation Sequencing)<\/li>\n<li>Analiza exomului extins<\/li>\n<li>Bioinformatic\u0103 avansat\u0103 pentru identificarea variantelor genetice<\/li>\n<li>Clasificarea variantelor conform ghidurilor interna\u021bionale ale American College of Medical Genetics and Genomics \u0219i Association for Molecular Pathology<\/li>\n<li>Confirmare prin metode complementare atunci c\u00e2nd este necesar<\/li>\n<\/ul>\n<p>Analiza se concentreaz\u0103 asupra variantelor patogene \u0219i probabil patogene cu relevan\u021b\u0103 clinic\u0103 pentru statusul de purt\u0103tor.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<h3>Reducerea riscului reproductiv<\/h3>\n<p>Permite identificarea cuplurilor cu risc crescut de a avea copii afecta\u021bi de boli genetice severe.<\/p>\n<h3>Planificare familial\u0103 informat\u0103<\/h3>\n<p>Ofer\u0103 informa\u021bii esen\u021biale \u00eenaintea concep\u021biei sau \u00een cadrul procedurilor de reproducere asistat\u0103.<\/p>\n<h3>Acoperire extins\u0103<\/h3>\n<p>Analizeaz\u0103 peste 2.000 de gene, dep\u0103\u0219ind semnificativ panelurile tradi\u021bionale de carrier screening.<\/p>\n<h3>Optimizarea strategiilor reproductive<\/h3>\n<h3>Rezultatele pot ghida op\u021biuni precum:<\/h3>\n<ul>\n<li>Testarea partenerului<\/li>\n<li>Diagnostic genetic preimplanta\u021bional (PGT-M)<\/li>\n<li>Fertilizare in vitro<\/li>\n<li>Utilizarea de game\u021bi de la donator<\/li>\n<li>Diagnostic prenatal<\/li>\n<\/ul>\n<h3>Impact asupra s\u0103n\u0103t\u0103\u021bii familiale<\/h3>\n<p>Identificarea purt\u0103torilor poate furniza informa\u021bii relevante \u0219i pentru al\u021bi membri ai familiei.<\/p>\n<h3>Prob\u0103 recoltat\u0103 \/ Condi\u021bii<\/h3>\n<h3>Prob\u0103:<\/h3>\n<ul>\n<li>2 x 6 ml s\u00e2nge periferic recoltat pe EDTA<\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>Nu necesit\u0103 repaus alimentar.<\/li>\n<li>Nu necesit\u0103 preg\u0103tire special\u0103.<\/li>\n<li>Se recomand\u0103 completarea unui chestionar privind istoricul familial \u0219i reproductiv.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Pentru o evaluare reproductiv\u0103 complet\u0103 se recomand\u0103 asocierea cu:<\/h3>\n<ul>\n<li>Cariotip constitu\u021bional ( https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/cultura-si-analiza-cromozomilor-din-celulele-sangelui-periferic-cariotip-high-resolution\/ )<\/li>\n<li>Exom (WES) ( https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/wes-bioexome\/ )<\/li>\n<li>Whole Genome Sequencing (WGS) ( https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/centogenome-mox-2-0-solo-wgs-whole-genome-sequencing-_-include-analiza-de-secventiere-marn-transcriptom\/ )<\/li>\n<li>Analiza produsului de conceptie ( https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-non-invaziva-produs-conceptie-ngs\/ )<\/li>\n<li>Screening prenatal non-invaziv (NIPT) (https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/sangene-nipt-genome-screen-sarcina-unica\/ )<\/li>\n<li>Cariotip molecular, arrayCGH ( https:\/\/www.clinica-sante.com\/ro\/analize-arraycgh\/arraycgh-180k-postnatal-agilent-180k\/ )<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Expanded Carrier Screening (ECS)<\/li>\n<li>Advanced Carrier Screening<\/li>\n<li>Exome-Based Carrier Screening<\/li>\n<li>Carrier Screening Extins<\/li>\n<li>Carrier Screening Preconcep\u021bional<\/li>\n<li>Carrier Screening pentru peste 2.000 de gene<\/li>\n<li>Reproductive Genetic Carrier Test<\/li>\n<li>Comprehensive Carrier Screening<\/li>\n<li>Universal Carrier Screening<\/li>\n<li>Carrier Screening bazat pe Exom<\/li>\n<\/ul>\n<h3>Limit\u0103ri ale testului<\/h3>\n<ul>\n<li>Nu exclude complet existen\u021ba tuturor variantelor genetice asociate bolilor ereditare.<\/li>\n<li>Nu detecteaz\u0103 toate tipurile de variante structurale sau modific\u0103ri genomice complexe.<\/li>\n<li>Un rezultat negativ reduce semnificativ, dar nu elimin\u0103 complet riscul reproductiv rezidual.<\/li>\n<li>Interpretarea trebuie realizat\u0103 \u00een context clinic \u0219i genetic adecvat, preferabil \u00een cadrul consilierii genetice.<\/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 portofoliul nostru. Consultul genetic se poate programa at\u00e2t \u00eenainte, c\u00e2t \u0219i dup\u0103 efectuarea testului. <strong>Consultul genetic de dup\u0103 test este gratuit \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii recomand\u0103rilor ulterioare.<\/strong><\/p>\n<p>E-mail: consult.genetic@clinica-sante.ro<\/p>\n<p>Telefon: 0773.975.894<\/p>\n<p>Luni-Vineri, 8:00-16:30<\/p>\n<p>Call Center: *8787<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Carrier Screening Avansat bazat pe Exom este un test genetic preconcep\u021bional care analizeaz\u0103 peste 2.000 de gene asociate cu boli genetice monogenice severe, rare \u0219i cu debut precoce. Testul identific\u0103 persoanele s\u0103n\u0103toase purt\u0103toare ale unor variante genetice patogene care pot fi transmise copiilor, contribuind la evaluarea riscului reproductiv \u0219i la planificarea familial\u0103 informat\u0103.<\/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-27317","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 4.9.8 - aioseo.com -->\n\t<meta name=\"description\" content=\"Carrier Screening Avansat bazat pe Exom este un test genetic preconcep\u021bional care analizeaz\u0103 peste 2.000 de gene asociate cu boli genetice monogenice severe, rare \u0219i cu debut precoce. 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Testul identific\u0103 persoanele s\u0103n\u0103toase purt\u0103toare ale unor variante genetice patogene care pot fi transmise copiilor, contribuind la evaluarea riscului reproductiv \u0219i la planificarea familial\u0103 informat\u0103.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/carrier-screening-avansat-bazat-pe-exom-cu-analiza-a-2423-gene\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:54:36+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-06-12T11:29:02+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Carrier Screening Avansat bazat pe Exom (cu analiza a &gt; 2000 gene) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Carrier Screening Avansat bazat pe Exom este un test genetic preconcep\u021bional care analizeaz\u0103 peste 2.000 de gene asociate cu boli genetice monogenice severe, rare \u0219i cu debut precoce. 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