{"id":27257,"date":"2025-06-24T14:51:15","date_gmt":"2025-06-24T12:51:15","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-cardiomiopatie-hipertrofica-93-de-gene\/"},"modified":"2026-02-27T17:59:59","modified_gmt":"2026-02-27T15:59:59","slug":"panel-cardiomiopatie-hipertrofica-93-de-gene","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-cardiomiopatie-hipertrofica-93-de-gene\/","title":{"rendered":"Panel Cardiomiopatie hipertrofica (93 de gene)"},"content":{"rendered":"<p><strong>Cardiomiopatia hipertrofic\u0103<\/strong> este caracterizat\u0103 prin \u00eengro\u0219area neobi\u0219nuit\u0103 a peretelui ventricular st\u00e2ng \u0219i poate duce la:<\/p>\n<\/p>\n<ul>\n<li>obstruc\u021bie a fluxului sanguin ventricular<\/li>\n<li>aritmii ventriculare \u0219i supraventriculare<\/li>\n<li>insuficien\u021b\u0103 cardiac\u0103 \u0219i risc de moarte subit\u0103, mai ales 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 forme sporadice<\/li>\n<li>screeningul rudelor de gradul I pentru purt\u0103tori de muta\u021bii<\/li>\n<\/ul>\n<p>Prin tehnologia NGS (Next Generation Sequencing) pe un panel de 93 de gene relevante, acest test ofer\u0103 precizie ridicat\u0103 \u0219i eficien\u021b\u0103 clinic\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>hipertrofia ventriculului st\u00e2ng sau drept detectat\u0103 ecocardiografic<\/li>\n<li>dispnee, palpita\u021bii, angin\u0103 sau sincop\u0103<\/li>\n<li>aritmii ventriculare sau supraventriculare<\/li>\n<li>istoric familial de moarte subit\u0103 cardiac\u0103<\/li>\n<li>insuficien\u021b\u0103 cardiac\u0103 progresiv\u0103<\/li>\n<li>diagnostic clinic de HCM cu fenotip variabil<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bilor cu diagnostic clinic de cardiomiopatie hipertrofic\u0103, mai ales cu suspiciune familial\u0103<\/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 93 de gene din panel (target exome)<\/li>\n<li>detectarea varia\u021biilor: SNV (single nucleotide variants), inser\u021bii\/dele\u021bi<strong>i<\/strong> (indels) \u0219i alte muta\u021bii rare cu impact clinic<\/li>\n<li>interpretare clinic\u0103 conform ghidurilor interna\u021bionale (ACMG) \u0219i raportare a 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>confirmare molecular\u0103 a etiologiei HCM<\/li>\n<li>identificarea pacien\u021bilor cu risc crescut \u0219i adaptarea managementului cardiologic (monitorizare, ICD, tratamente preventive)<\/li>\n<li>screening familial pentru preven\u021bie secundar\u0103<\/li>\n<li>clarificarea prognosticului \u0219i influen\u021barea 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>consiliere genetic\u0103 pretestare recomandat\u0103<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>ecocardiografie, RMN cardiac, Holter, test de efort<\/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 (ex. dilatativ\u0103, aritmogen\u0103)<\/li>\n<li>consult genetic post-testare pentru interpretarea rezultatelor \u0219i planificare familial\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panelul este un test genetic molecular complex de tip <em>target exome<\/em> care analizeaz\u0103 93 de gene asociate cu cardiomiopatie hipertrofic\u0103 (HCM). Scopul este identificarea muta\u021biilor patogene sau probabil patogene care pot determina hipertrofia ventricular\u0103, aritmii, insuficien\u021b\u0103 cardiac\u0103 sau risc de moarte subit\u0103, \u00een context familial sau sporadic.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>AARS2, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, ANK2, ANKRD1, ATP5E, ATPAF2, BRAF, BSCL2, CALR3, CAV3, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, DES, DLD, DSP, ELAC2, FAH, FHL1, FHL2, FHOD3, FLNC, FOXRED1, FXN, GAA, GFM1, GLA, GLB1, GNPTAB, GUSB, HRAS, JPH2, KRAS, LAMP2, LDB3, LIAS, LZTR1, MAP2K1, MAP2K2, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEXN, NF1, NRAS, OBSCN, PDHA1, PHKA1, PLN, PMM2, PRKAG2, PTPN11, RAF1, SCO2, SHOC2, SLC22A5, SLC25A3, SLC25A4, SOS1, SURF1, TAZ, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, 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-27257","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\/27257","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=27257"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27257"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27257"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27257"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}