{"id":27750,"date":"2025-06-24T15:52:18","date_gmt":"2025-06-24T13:52:18","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-cardiomiopatie-hipertrofica-familiala-panel-1\/"},"modified":"2026-02-27T18:06:16","modified_gmt":"2026-02-27T16:06:16","slug":"panel-cardiomiopatie-hipertrofica-familiala-panel-1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-cardiomiopatie-hipertrofica-familiala-panel-1\/","title":{"rendered":"Panel Cardiomiopatie hipertrofica familiala, panel 1"},"content":{"rendered":"<p><strong>Cardiomiopatia hipertrofic\u0103<\/strong> se caracterizeaz\u0103 prin \u00eengro\u0219area peretelui ventricular st\u00e2ng, care poate duce la:<\/p>\n<\/p>\n<ul>\n<li>obstruc\u021bie a tractului de ejec\u021bie ventricular<\/li>\n<li>insuficien\u021b\u0103 cardiac\u0103<\/li>\n<li>aritmii ventriculare \u0219i supraventriculare<\/li>\n<li>risc de moarte subit\u0103, \u00een special la tineri \u0219i sportivi<\/li>\n<\/ul>\n<p><strong>Testul genetic permite:<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea unei cauze ereditare a HCM<\/li>\n<li>diferen\u021bierea \u00eentre forme familiale \u0219i sporadice<\/li>\n<li>screeningul rudelor de gradul I pentru purt\u0103tori de muta\u021bii<\/li>\n<\/ul>\n<p>Prin tehnologia NGS pe un panel de 30 de gene relevante, testul ofer\u0103 precizie ridicat\u0103 \u0219i valoare clinic\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>dispnee, fatigabilitate, durere toracic\u0103<\/li>\n<li>palpita\u021bii sau sincop\u0103<\/li>\n<li>hipertrofie ventricular\u0103 st\u00e2ng\u0103 detectat\u0103 ecocardiografic<\/li>\n<li>istoric familial de moarte subit\u0103 cardiac\u0103<\/li>\n<li>hipertensiune ventricular\u0103 asociat\u0103 cu aritmii<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor cu diagnostic clinic sau ecocardiografic de HCM<\/li>\n<li>rudele de gradul I ale unui pacient cu muta\u021bie detectat\u0103<\/li>\n<li>pacien\u021bilor cu hipertrofie ventricular\u0103 inexplicabil\u0103 sau aritmii maligne<\/li>\n<li>medici cardiologi \u0219i geneticieni implica\u021bi \u00een managementul HCM<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere NGS a regiunilor codante (exoni) ale celor 30 de gene din panel (target exome)<\/li>\n<li>detectarea varia\u021biilor: SNV, indels \u0219i alte muta\u021bii rare cu impact clinic<\/li>\n<li>interpretare conform ghidurilor ACMG \u0219i raportarea variantelor patologice, probabil patologice \u0219i a celor de semnifica\u021bie incert\u0103 (VUS)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>confirmarea molecular\u0103 a etiologiei HCM<\/li>\n<li>identificarea pacien\u021bilor cu risc crescut pentru aritmii sau insuficien\u021b\u0103 cardiac\u0103<\/li>\n<li>screening familial pentru preven\u021bie secundar\u0103<\/li>\n<li>clarificarea prognosticului \u0219i ghidarea deciziilor terapeutice<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>rezultatul negativ nu exclude componenta genetic\u0103 a HCM<\/li>\n<li>variantele de semnifica\u021bie incert\u0103 (VUS) pot necesita reevaluare \u00een timp<\/li>\n<li>analiza se concentreaz\u0103 pe regiunile codante, f\u0103r\u0103 acoperire complet\u0103 a regiunilor necodante sau epigenetice<\/li>\n<li>diagnosticul genetic trebuie integrat cu evaluarea clinic\u0103 \u0219i imagistic\u0103 cardiologic\u0103<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103 \u0219i condi\u021bii pentru recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge venos \u00een tub EDTA<\/li>\n<li>recoltare standard, f\u0103r\u0103 repaus alimentar specific<\/li>\n<li>identificarea pacientului \u0219i consiliere genetic\u0103 pretestare recomandate<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>ecocardiografie \u0219i RMN cardiac<\/li>\n<li>evaluare genetic\u0103 a rudelor de gradul I dac\u0103 se identific\u0103 muta\u021bie<\/li>\n<li>alte paneluri cardiologice dac\u0103 exist\u0103 fenotip overlap (dilatativ\u0103 sau restrictiv\u0103)<\/li>\n<li>consult genetic post-testare pentru interpretarea rezultatelor \u0219i planificare familial\u0103<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Panelul este un test genetic molecular de tip <em>target exome<\/em> care analizeaz\u0103 30 de gene asociate cu cardiomiopatie hipertrofic\u0103 (HCM) familial\u0103. Scopul este identificarea muta\u021biilor patogene sau probabil patogene care pot determina hipertrofia ventricular\u0103, aritmii \u0219i risc de moarte subit\u0103, \u00een special \u00een context familial sau sporadic.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>ACTC1, ACTN2, CAV3, CSRP3, DES, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PDLIM3, PLN, PRKAG2, PTPN11, RYR2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL<\/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":{"0":"post-27750","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","8":"pa_conditii-medicale-afecti-cardiomiopatii-dilatativa-hipertrofica-restrictiva","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\/27750","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=27750"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27750"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27750"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27750"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}