{"id":27656,"date":"2025-06-24T15:47:30","date_gmt":"2025-06-24T13:47:30","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients\/"},"modified":"2026-02-27T18:03:22","modified_gmt":"2026-02-27T16:03:22","slug":"screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients\/","title":{"rendered":"Screening status de purtator &#8211; 420 gene &#8211; Carrier Screening 420 genes"},"content":{"rendered":"<p>Testul acoper\u0103 peste 400 de afec\u021biuni genetice, incluz\u00e2nd:<\/p>\n<\/p>\n<p><strong>1. Tulbur\u0103ri metabolice \u0219i de depozitare<\/strong><\/p>\n<\/p>\n<ul>\n<li>Fibroza chistic\u0103 (CFTR) \u2013 afecteaz\u0103 pl\u0103m\u00e2nii \u0219i digestia.<\/li>\n<li>Fenilcetonuria (PAH) \u2013 tulburare a metabolismului aminoacizilor.<\/li>\n<li>Bolile Tay-Sachs, Sandhoff, Gaucher, Krabbe \u2013 afec\u021biuni severe ale metabolismului lipidelor \u0219i neuronilor.<\/li>\n<li>Tulbur\u0103ri ale metabolismului glicogenului \u0219i acizilor gra\u0219i (ex.: Pompe, Cori, McArdle); deficien\u021be ACADM\/ACADVL \u2013 afecteaz\u0103 energia \u0219i func\u021bia muscular\u0103.<\/li>\n<\/ul>\n<p><strong>2. Afec\u021biuni hematologice \u0219i hemoglobinopatii<\/strong><\/p>\n<\/p>\n<ul>\n<li>Beta- \u0219i alfa-talasemii, hemoglobinoze \u2013 anemii ereditare, unele severe.<\/li>\n<li>Deficit de factor XI, hemofilie A\/B, boala von Willebrand \u2013 tulbur\u0103ri de coagulare.<\/li>\n<\/ul>\n<p><strong>3. Tulbur\u0103ri neuromusculare \u0219i neurodegenerative<\/strong><\/p>\n<\/p>\n<ul>\n<li>Distrofii musculare (Duchenne\/Becker, scapulo pelviene, miopatii nemalinice).<\/li>\n<li>Ataxii \u0219i paraplegii spastice \u2013 afecteaz\u0103 coordonarea \u0219i mobilitatea.<\/li>\n<li>Deficien\u021be mitocondriale \u0219i encefalopatii metabolice \u2013 afecteaz\u0103 func\u021bia creierului \u0219i metabolismul energetic.<\/li>\n<\/ul>\n<p><strong>4. Tulbur\u0103ri ale sim\u021burilor \u0219i organelor senzoriale<\/strong><\/p>\n<\/p>\n<ul>\n<li>Hipoacuzie genetic\u0103 congenital\u0103 (GJB2, GJB3, GJB6, MYO7A, PCDH15, USH1C, USH2A).<\/li>\n<li>Retinopatii \u0219i amauroze congenitale (CEP290, CRB1, RDH12, RPE65).<\/li>\n<\/ul>\n<p><strong>5. Sindroame complexe multisistem<\/strong><\/p>\n<\/p>\n<ul>\n<li>Bardet-Biedl, Ellis-van Creveld, Alport, Cockayne, Meckel-Gruber, nanism Mulibrey .<\/li>\n<li>Afecteaz\u0103 mai multe organe: rinichi, inim\u0103, oase, creier, piele \u0219i organe de sim\u021b.<\/li>\n<\/ul>\n<p><strong>6. Tulbur\u0103ri endocrinologice \u0219i metabolice<\/strong><\/p>\n<\/p>\n<ul>\n<li>Hiperoxalurie, tirozinemie, hiperplazie suprarenal\u0103 congenital\u0103, deficien\u021be hormonale.<\/li>\n<li>Poat afecta dezvoltarea, metabolismul \u0219i fertilitatea.<\/li>\n<\/ul>\n<p><strong>7. Mucopolizaharidoze \u0219i boli lizozomale<\/strong><\/p>\n<\/p>\n<ul>\n<li><strong>Hurler, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy<\/strong> \u2013 afecteaz\u0103 oasele, ficatul, creierul \u0219i sistemul cardiovascular.<\/li>\n<\/ul>\n<p><strong style=\"color: black\">Aceasta este o prezentare general\u0103 a categoriilor principale. Lista complet\u0103 cu toate cele 420 gene o pute\u021bi consulta mai jos.<\/strong><\/p>\n<p><a href=\"https:\/\/www.clinica-sante.com\/ro\/wp-content\/uploads\/2026\/02\/Carrier-Screening-A4-2026.pdf\" target=\"_blank\"><b><font color=\"#ff9c00\">LISTA BOLILOR GENETICE INCLUSE \u00ceN TESTAREA CARRIER SCREENING<\/font><\/b><\/a><strong style=\"color: black\"><br \/><\/strong><\/p>\n<\/p>\n<p><strong>Modalitatea de transmitere:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Autosomal\u0103 recesiv\u0103: copilul este afectat doar dac\u0103 mo\u0219tene\u0219te muta\u021bia de la ambii p\u0103rin\u021bi. Purt\u0103torii sunt asimptomatici.<\/li>\n<li>Legat\u0103 de cromozomul X: b\u0103ie\u021bii mo\u0219tenesc boala de la mama purt\u0103toare; femeile purt\u0103toare sunt de obicei s\u0103n\u0103toase, dar pot transmite muta\u021bia.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 testarea:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Oric\u0103rui cuplu f\u0103r\u0103 istoric familial de boal\u0103 genetic\u0103 care dore\u0219te informa\u021bii legate de riscul genetic reproductiv<\/li>\n<li>Cuplurilor cu istoric familial cunoscut de boal\u0103 genetic\u0103, dup\u0103 un consult genetic prealabil<\/li>\n<li>&nbsp;Cuplurilor consangvine<\/li>\n<li>Cuplurilor care apar\u021bin unui grup etnic cunoscut cu o inciden\u021b\u0103 crescut\u0103 a unor boli genetice<\/li>\n<li>Donatorilor de sperm\u0103<\/li>\n<li>Donatoarelor de ovocite<\/li>\n<\/ul>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Proba utilizat\u0103: s\u00e2nge periferic recoltat pe vacutainer EDTA.<\/li>\n<li>Analiz\u0103: Next-Generation Sequencing (NGS), care detecteaz\u0103 muta\u021biile cunoscute \u0219i rare \u00een cele 420 de gene.<\/li>\n<li>Rezultatele ofer\u0103 statutul de purt\u0103tor pentru fiecare gen\u0103 inclus\u0103 \u0219i riscul de transmitere a afec\u021biunilor<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Permite planificarea familial\u0103 informat\u0103 \u00eenainte de concep\u021bie.<\/li>\n<li>Identific\u0103 riscul de transmitere a bolilor recesive sau legate de X.<\/li>\n<li>Faciliteaz\u0103 consilierea genetic\u0103 \u0219i deciziile preventive.<\/li>\n<li>Test neinvaziv, rapid \u0219i precis.<\/li>\n<\/ul>\n<p><strong>Limit\u0103ri:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Nu detecteaz\u0103 toate muta\u021biile posibile, unele fiind extrem de rare sau necunoscute.<\/li>\n<li>Testul nu ofer\u0103 diagnostic de boal\u0103 la adult sau copil, doar starea de purt\u0103tor.<\/li>\n<li>Dac\u0103 ambii parteneri sunt purt\u0103tori, se recomand\u0103 consiliere genetic\u0103 suplimentar\u0103.<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii:<\/strong><\/p>\n<\/p>\n<ul>\n<li>S\u00e2nge periferic, EDTA.<\/li>\n<li>Proba poate fi recoltat\u0103 \u00een orice moment, f\u0103r\u0103 preg\u0103tire special\u0103.<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Testarea partenerului pentru acelea\u0219i gene, dac\u0103 este identificat\u0103 starea de purt\u0103tor.<\/li>\n<li>Consiliere genetic\u0103 pentru interpretarea riscului pentru urma\u0219i.<\/li>\n<li>Panel genetic suplimentar pentru afec\u021biuni specifice, dup\u0103 indica\u021bia medicului<\/li>\n<\/ul>\n<p><span style=\"color: black\">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 <\/span><strong style=\"color: black\">GRATUIT<\/strong><span style=\"color: black\"> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/span><\/p>\n<\/p>\n<p><strong>E-mail: <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","protected":false},"excerpt":{"rendered":"<p>Acest test genetic extins identific\u0103 persoanele care sunt purt\u0103tori asimptomatici ai muta\u021biilor asociate cu peste 400 de boli ereditare. Testul permite evaluarea riscului de transmitere a acestor afec\u021biuni copiilor \u0219i ajut\u0103 la planificarea familial\u0103 \u0219i la consilierea genetic\u0103.<\/p>\n<\/p>\n<p><strong>Ce \u00eenseamn\u0103 \u201ecarrier screening\u201d:<\/strong><\/p>\n<\/p>\n<ul>\n<li>\u201eCarrier screening\u201d sau screeningul st\u0103rii de purt\u0103tor detecteaz\u0103 variante patogene \u00een gene asociate cu boli autozomal recesive sau legate de cromozomul X, la persoane asimptomatice, care pot transmite aceste variante copiilor.<\/li>\n<li>Afec\u021biunile autozomal recesive,\u00a0se manifest\u0103 la copil doar dac\u0103 ambii p\u0103rin\u021bi sunt purt\u0103tori pentru aceea\u0219i boal\u0103\/afec\u021biune (adic\u0103 poart\u0103 variante patogene \u00een aceea\u0219i gen\u0103); variantele <strong>nu trebuie s\u0103 fie identice<\/strong>.<\/li>\n<li>Afec\u021biunile legate de X se manifest\u0103 mai frecvent la b\u0103ie\u021bi, \u00een timp ce femeile purt\u0103toare sunt de obicei asimptomatice.<\/li>\n<\/ul>\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":{"0":"post-27656","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-fertilitate-infertilitate-fiv","7":"product_cat-serviciu-laborator","8":"pa_genetica-fertilitate-infertilitate-fiv","10":"first","11":"instock","12":"sale","13":"virtual","14":"purchasable","15":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27656","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=27656"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27656"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27656"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27656"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}