{"id":27678,"date":"2025-06-24T15:48:38","date_gmt":"2025-06-24T13:48:38","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-boli-oftalmologice-genetice-centovision\/"},"modified":"2026-02-27T18:04:27","modified_gmt":"2026-02-27T16:04:27","slug":"panel-boli-oftalmologice-genetice-centovision","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boli-oftalmologice-genetice-centovision\/","title":{"rendered":"Panel boli oftalmologice genetice &#8211; CentoVision"},"content":{"rendered":"<p><strong>Panelul CentoVision<\/strong> permite analiza simultan\u0103 a ADN-ului nuclear \u0219i mitocondrial pentru identificarea variantelor de tip SNV, indel \u0219i CNV, relevante clinic.<\/p>\n<\/p>\n<p>Este util pentru confirmarea diagnosticului molecular, orientarea managementului oftalmologic \u0219i selec\u021bia pacien\u021bilor pentru terapii genetice sau trialuri clinice.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Retinite pigmentare<\/li>\n<li>Amauroz\u0103 congenital\u0103 Leber<\/li>\n<li>Boala Stargardt<\/li>\n<li>Glaucom congenital<\/li>\n<li>Cataract\u0103 congenital\u0103 sau precoce<\/li>\n<li>Nistagmus congenital<\/li>\n<li>Sindroame cu afectare ocular\u0103 (ex. Usher, Stickler)<\/li>\n<li>Pierdere vizual\u0103 progresiv\u0103, degenerescen\u021be maculare familiale<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Pacien\u021bilor cu suspiciune clinic\u0103 de boal\u0103 genetic\u0103 oftalmologic\u0103<\/li>\n<li>\u00a0Nou-n\u0103scu\u021bilor \u0219i copiilor cu afectare vizual\u0103 sever\u0103 neexplicat\u0103<\/li>\n<li>Pacien\u021bilor cu afec\u021biuni sindromice ce includ component\u0103 ocular\u0103<\/li>\n<li>Pentru consiliere genetic\u0103, testare familial\u0103 \u0219i evaluarea eligibilit\u0103\u021bii pentru terapii \u021bintite<\/li>\n<\/ul>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Secven\u021biere NGS a regiunilor codante \u0219i \u00b110 bp flancante ale genelor incluse<\/li>\n<li>Analiz\u0103 bioinformatic\u0103 a variantelor SNV, indel \u0219i CNV<\/li>\n<li>Confirmarea variantelor relevante prin metode ortogonale: Sanger, MLPA, qPCR<\/li>\n<li>Clasificarea variantelor conform ghidurilor ACMG\/AMP<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021ba clinic\u0103:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Confirm\u0103 sau infirm\u0103 suspiciunea clinic\u0103 (diagnostic molecular)<\/li>\n<li>Ofer\u0103 informa\u021bii pentru urm\u0103rire oftalmologic\u0103 specific\u0103 \u0219i interven\u021bii precoce<\/li>\n<li>Sprijin\u0103 consilierea genetic\u0103 \u0219i testarea familial\u0103<\/li>\n<li>Identific\u0103 eligibilitatea pacientului pentru terapii genice \u0219i trialuri clinice<\/li>\n<li>Cre\u0219te sensibilitatea diagnosticului fa\u021b\u0103 de metodele clasice<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Testul analizeaz\u0103 doar genele incluse \u00een panel (450 de gene)<\/li>\n<li>Nu detecteaz\u0103 toate variantele\/genele posibile; dac\u0103 panelul este negativ, se pot recomanda secven\u021bieri exom\/genom sau teste complementare<\/li>\n<li>Anumite regiuni repetate sau cu omologie mare pot necesita teste suplimentare (MLPA, repeat-expansion assays)<\/li>\n<\/ul>\n<p><strong>Condi\u021bii pentru recoltare:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Recoltare \u00een tub EDTA<\/li>\n<li>Evitarea hemolizei \u0219i transport la temperatur\u0103 recomandat\u0103 de laborator<\/li>\n<li>Proba trebuie procesat\u0103 conform instruc\u021biunilor laboratorului <\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Consult oftalmologic detaliat<\/li>\n<li>Teste func\u021bionale retiniene (ERG, OCT, camp vizual)<\/li>\n<li>Screening genetic familial pentru purtatori sau confirmare muta\u021bii<\/li>\n<li>\u00cen cazuri selectate: WES sau WGS dac\u0103 panelul este negativ<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p><strong>Panelul CentoVision<\/strong> este un test genetic avansat, realizat prin tehnologie NGS (Next Generation Sequencing), care investigheaz\u0103 450 de gene asociate bolilor oftalmologice ereditare.<\/p>\n<p> Testul identific\u0103 variante genetice implicate \u00een pierderea vizual\u0103 \u0219i \u00een sindroame cu afectare ocular\u0103, oferind un diagnostic molecular precis.<\/p>\n<\/p>\n<p><strong>Gene analizate:<\/strong><\/p>\n<p>ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASB10, ATF6, ATOH7, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP418, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, DGUOK, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, EYS, FAM161A, FDXR, FLVCR1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, HYCC1, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTRFR, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POC1B, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, ZIC2, ZNF408, ZNF423, ZNF513<\/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-27678","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","9":"first","10":"instock","11":"sale","12":"virtual","13":"purchasable","14":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27678","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=27678"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27678"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27678"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27678"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}