{"id":27202,"date":"2025-06-24T14:48:04","date_gmt":"2025-06-24T12:48:04","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-autism\/"},"modified":"2026-02-27T17:59:13","modified_gmt":"2026-02-27T15:59:13","slug":"panel-genetic-autism","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-autism\/","title":{"rendered":"Panel genetic autism"},"content":{"rendered":"<p>Testul utilizeaz\u0103 tehnologia Next Generation Sequencing (NGS) pentru secven\u021bierea simultan\u0103 a peste 2.500 de gene cunoscute a fi implicate \u00een tulbur\u0103rile din spectrul autist, \u00eent\u00e2rzierea de dezvoltare, dizabilitatea intelectual\u0103 \u0219i alte sindroame neurogenetice \u0219i permite o rat\u0103 de identificare a cauzei genetice de p\u00e2n\u0103 la 40% la pacien\u021bii cu autism idiopatic.<\/p>\n<\/p>\n<p>Raportul final include interpretarea variantelor conform ghidurilor ACMG, corelarea cu fenotipul pacientului \u0219i recomand\u0103ri pentru consiliere genetic\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>tulbur\u0103ri din spectrul autist (TSA)<\/li>\n<li>\u00eent\u00e2rziere global\u0103 de dezvoltare<\/li>\n<li>tulbur\u0103ri de limbaj \u0219i comunicare<\/li>\n<li>dizabilitate intelectual\u0103 de cauz\u0103 necunoscut\u0103<\/li>\n<li>episoade de regres neurodezvoltativ<\/li>\n<li>comportamente stereotipe sau tulbur\u0103ri de comportament<\/li>\n<li>epilepsie asociat\u0103 fenotipului autist<\/li>\n<li>suspiciune de sindroame genetice cu afectare cognitiv\u0103 \u0219i comportamental<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>copiilor sau adul\u021bilor diagnostica\u021bi cu tulbur\u0103ri de spectru autist<\/li>\n<li>pacien\u021bilor cu semne de \u00eent\u00e2rziere global\u0103 de dezvoltare sau dizabilitate intelectual\u0103 nediagnosticat\u0103<\/li>\n<li>persoanelor cu antecedente familiale de tulbur\u0103ri neurodezvoltative<\/li>\n<li>familiilor care doresc o evaluare genetic\u0103 complet\u0103 pentru stabilirea cauzei \u0219i a riscului de recuren\u021b\u0103<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere NGS a tuturor exoanelor \u0219i regiunilor intron-exon ale genelor implicate<\/li>\n<li>analiz\u0103 bioinformatic\u0103 avansat\u0103 pentru identificarea varia\u021biilor punctuale \u0219i a <strong>dele\u021biilor<\/strong>\/<strong>duplica\u021biilor<\/strong><\/li>\n<li>clasificare a variantelor conform criteriilor ACMG 2015<\/li>\n<\/ul>\n<p><strong>Gene frecvent implicate:<\/strong><\/p>\n<\/p>\n<p>ADNP, ANK2, ARID1B, CHD8, DYRK1A, FOXP1, GRIN2B, MECP2, MBD5, NLGN3, NLGN4X, NRXN1, PTEN, SCN2A, SHANK2, SHANK3, SYNGAP1, TCF4, TSC2<\/p>\n<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>identific\u0103 cauzele genetice \u00een p\u00e2n\u0103 la 30\u201340% din cazurile de autism idiopatic<\/li>\n<li>permite stabilirea prognosticului, consilierea familial\u0103 \u0219i orientarea terapeutic\u0103<\/li>\n<li>contribuie la evitarea test\u0103rilor inutile \u0219i la individualizarea \u00eengrijirii<\/li>\n<li>permite evaluarea riscului de recuren\u021b\u0103 la rudele de gradul I<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>testul analizeaz\u0103 regiunile codante ale genelor implicate, f\u0103r\u0103 a acoperi variantele din regiunile profund intronice sau promotorii<\/li>\n<li>nu evalueaz\u0103 mozaicismul la nivel sc\u0103zut (&lt;10%)<\/li>\n<li>rezultatele pot include variante de semnifica\u021bie incert\u0103 (VUS), care necesit\u0103 corelare clinic\u0103 \u0219i reevaluare periodic\u0103<\/li>\n<li>\u00een cazuri rare, pot fi necesare teste suplimentare (array-CGH, exom complet sau testare parental\u0103 pentru segregare)<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge integral \u2013 2 \u00d7 6 ml \u00een vacutainer cu EDTA<\/li>\n<li>p\u0103strare \u0219i transport: temperatura camerei (2\u201325 \u00b0C), f\u0103r\u0103 congelare<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>array-CGH genomic \u2013 pentru detectarea anomaliilor cromozomiale extinse<\/li>\n<li>exom clinic extins (WES) \u2013 \u00een caz de rezultat negativ la panel<\/li>\n<li>panel epilepsie \u2013 dac\u0103 fenotipul include convulsii sau anomalii EEG<\/li>\n<li>testare parental\u0103 (segregare) \u2013 pentru interpretarea variantelor de semnifica\u021bie incert\u0103 (VUS)<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Panelul genetic Autism<\/strong> este o analiz\u0103 complex\u0103 de secven\u021biere de nou\u0103 genera\u021bie destinat\u0103 identific\u0103rii cauzelor genetice asociate tulbur\u0103rilor din spectrul autist (TSA) \u0219i altor tulbur\u0103ri de neurodezvoltare.<\/p>\n<\/p>\n<p>Tulbur\u0103rile din spectrul autist (TSA) reprezint\u0103 un grup de condi\u021bii neurodezvoltative caracterizate prin dificult\u0103\u021bi de comunicare, interac\u021biune social\u0103 \u0219i prezen\u021ba unor comportamente repetitive sau interese restr\u00e2nse.<\/p>\n<\/p>\n<p>Spectrul este foarte larg \u2014 de la forme u\u0219oare, cu inteligen\u021b\u0103 normal\u0103 \u0219i integrare social\u0103 bun\u0103, p\u00e2n\u0103 la forme severe, asociate cu dizabilitate intelectual\u0103, tulbur\u0103ri motorii, epilepsie sau alte anomalii de dezvoltare.<\/p>\n<\/p>\n<p>Autismul nu este o boal\u0103 unic\u0103, ci o manifestare comun\u0103 a unor cauze multiple, \u00een care factorii genetici joac\u0103 un rol esen\u021bial.<\/p>\n<\/p>\n<p><strong>Lista genelor analizate:<\/strong><\/p>\n<\/p>\n<p>A2M, A2ML1, AAAS, AADACL2, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA13, ABCA2, ABCA7, ABCB5, ABCB7, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD5, ABI3BP, ACACB, ACADM, ACADS, ACADSB, ACAT1, ACAT2, ACBD6, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTR3C, ACVR1, ACY1, ADAM22, ADAM33, ADAMTS10, ADAMTS2, ADAR, ADAT3, COQ8A, ADCY5, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGO1, AGTR2, AGXT2, AHCY, AHDC1, AHI1, AHNAK2, AHRR, AIFM1, AIMP1, AIP, AKAP13, AKAP9, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALS2, ALX1, ALX3, ALX4, AMD1, AMER1, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKH, ANKRD11, ANKS1A, ANKS3, ANO10, ANO5, ANOS1, ANTXR1, ANXA1, AOC1, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APBA2, APH1A, APOC3, COA8, APP, APPL2, APTX, AQP2, AR, AREL1, ARFGEF2, ARG1, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID5A, ARIH1, ARL13B, ARL14EP, ARL6, ARL6IP6, ARMC5, ARNT2, ARSA, ARSL, ARSF, ARSH, ARVCF, ARX, ASAH1, ASB1, ASCC3, ASCL1, ASH1L, ASL, ASMT, ASNS, ASPA, ASPH, ASPM, ASS1, INTS13, ASXL1, ASXL3, ATCAY, ATIC, ATL1, ATM, ATP10D, ATP11B, ATP13A2, ATP13A4, ATP13A5, ATP1A2, ATP1A3, ATP1B1, ATP1B4, ATP2A2, ATP2B4, ATP5F1E, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, AUH, AUP1, AUTS2, AVP, AVPR2, B3GALNT2, B3GALT6, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCLAF1, BCOR, BCORL1, BCS1L, BEND2, BIN1, BIRC6, BLM, BMP2K, BMP4, BMPER, BOLA3, BPIFA3, BRAF, BRAT1, BRD1, BRD3, BRF1, BRIP1, BRSK2, BRWD1, BRWD3, BSCL2, BSND, BTD,<\/p>\n<p>BTK, BTN1A1, BUB1, BUB1B, TWNK, C12orf57, C12orf65, CCDC198, C19orf12, C1orf127, FYB2, C2CD3, C2orf42, C3, CPLANE1, MAP11, C9orf72, CA2, CA8, CACHD1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D3, CACNG2, CAD, CADM1, CADPS2, CAMK2G, CAMK4, CAMTA1, CANT1, CAPN10, CAPRIN1, GOLM2, KNL1, CASK, CASP2, CASR, CBFA2T2, CBL, CBS, CBX4, CC2D1A, CC2D2A, CCAR2, CCBE1, MCUB, CCDC14, CCDC18, CCDC22, CCDC85C, CCDC88C, CCDC90B, CCL26, CCND2, CCT5, CD151, CD163L1, CD300LF, CD96, CDC42BPB, CDC6, CDCA7L, CDH11, CDH15, CDH3, CDH5, CDK13, CDK16, CDK5, CDK5R1, CDK5RAP2, CDK6, CDKL5, CDKN1B, CDKN1C, CDON, CDX2, ADA2, CELF6, CELSR3, CENPBD1, CENPJ, CEP104, CEP135, CEP152, CEP164, CEP170B, CEP19, CEP290, CEP41, CEP57, CEP63, CEP83, CERS1, CERS6, CFHR2, CHAF1B, CHAMP1, CHD1, CHD2, CHD3, CHD7, CHD8, CHKB, CHMP1A, CHMP2A, CHMP2B, CHRNA2, CHRNA4, CHRND, CHST14, CIAO1, CIC, CISD2, CKAP2L, CLCN4, CLCN6, CLCNKA, CLCNKB, CLIC2, CLIP1, CLN3, CLN5, CLN8, CLP1, CLPB, CLPP, CLTCL1, CNDP2, CNKSR1, CNKSR2, CNNM2, CNOT4, CNTN3, CNTN4, CNTNAP1, CNTNAP2, CNTNAP5, COASY, COG1, COG4, COG5, COG6, COG8, COL11A1, COL1A1, COL1A2, COL4A1, COL4A2, CERT1, COL7A1, COLEC11, COMT, COPS2, COQ2, COQ5, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX4I2, COX6B1, COX7B, CP, CPS1, CPT1A, CPT1B, CPZ, CRADD, CRBN, CREB3, CREBBP, CRIPT, CRLF1, CRYZL1, CSDE1, CSF1R, CSMD1, CSNK2A1, CSPP1, CST9, CSTF2T, CTCF, CTDP1, CTNNB1, CTNND2, CTSA, CTSD, CTSH, CTTNBP2, CUL3, CUL4B, CUL5, CUX2, CWF19L1, CYB5R3, CYFIP1, CYP24A1, CYP27A1, CYP4F3, D2HGDH, DAB2, DACH2, DAG1, DARS1, DBF4B, DBT, DCAF11, DCAF13, DCAF17, DCAF4, DCAKD, DCHS1, DCPS, DCTN1, DCX, DDC, DDHD2, DDOST, DDR2, DDX11, DDX24, DDX3X, DDX47, DDX59, DEAF1, DEFB124, DENND5A, DENR, DEPDC5, DGAT2L6, ESS2, DHCR24, DHCR7, DHFR, DHTKD1, DIAPH1, DIAPH3, DICER1, DIP2A, DIP2B, DIP2C, DIS3L2, DISC1, DKC1, DLAT, DLD, DLG3, DLG4, DLGAP2, DLL1, DLX6, DMD, DMPK, DMXL1, DMXL2, DNA2, DNAH10, DNAH5, DNAH7, DNAH9, DNAJC19, DNAJC6, DNM1, DNMT3A, DNMT3B, DOC2A, DOCK6, DOCK7, DOCK8, DPAGT1, DPH1, DPM1, DPM2, DPP3, DPP4, DPP6, DPYD, DPYS, DRP2, DUOXA2, DUSP15, DUSP3, DUSP6, DXO, DYM, DYNAP, DYNC1H1, DYRK1A, EARS2, EBAG9, EBF3, EBP, ECHS1, ECM1, ECM2, EDC3, EDNRB, EEF1A2, EFCAB13, EFCAB5, EFHC2, EFNB1, EFR3A, EFTUD2, EGF, EGR1, EHD2, EHMT1, EIF2AK3, EIF2S3, EIF3G, EIF4A3, EIF4E, ELAC2, ELK1, ELOVL4, ELP2, EMC4, ENDOV, ENTPD1, EP300, EPAS1, EPB41L1, EPG5, EPHB2, EPM2A, ERBIN, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ERMARD, ESCO2, ETHE1, EVC, EVC2, EXOSC3, EXOSC8, EYA1, EZH2, EZR, FA2H, FAAH2, FABP7, FAM111A, FAM111B, FAM120A, FAM120B, FAM126A, FAM177A1, MINDY4, FAM205A, MINDY2, FAM71A, FAM81B, FAM8A1, FAM91A1, FAM9C, FANCA, FANCC, FANCD2, FANCE, FANCL, FAR1, FARS2, FASN, FASTKD2, FAT1, FAT3, FAT4, FBLN1, FBXL4, FBXL6, FBXO10, FBH1, FBXO31, FCRL6, FEZF1, FEZF2, FGD1, FGD3, FGF14, FGF17, FGF22, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLG, FLNA, FLNB, FLRT3, FLVCR1, FMN1, FMN2, FMR1, FN1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FREM3, FRMPD4, FRY, FTCD, FTL, FTO, FTSJ1, FUCA1, FUS, G6PC3, GAA, GABRA1, GABRB2, GABRB3, GAD1, GAK, GALE, GALNT18, GALT, GAMT, GAN, GARS1, GATA1, GATA2, GATA3, GATA4, GATA6, GATAD2B, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDF5, GDI1, GEMIN4, GFAP, GFER, GFPT2, GIMAP8, GJA1, GJB1, GJB2, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAI3, GNAO1, GNAQ, GNAS, GNB1L, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOLGA3, GORAB, GP1BB, GPC3, GPD2, GPI, GPR101, ADGRG4,<\/p>\n<p>GPR139, GPR152, GPR37, GPRIN3, GPS1, GPSM2, GPT2, GRIA1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM7, GRN, GRPR, GSE1, GSS, GTF2H5, GTF2IRD1, GTF3C2, GTPBP3, GUCY2D, GUSB, GYG2, H3-3A, H3-3B, HADH, HADHA, HADHB, HAP1, HARS2, HAX1, HBB, HCAR1, HCCS, HCFC1, HCN1, HCRT, HDAC4, HDAC6, HDAC8, HDGF, RP2, HDLBP, HECW2, HEPACAM, HEPACAM2, HERC2, HESX1, HGSNAT, HHAT, HIBCH, HID1, HIGD2A, HIRA, H2AC8, H3-4, HIVEP2, HLA-DQB1, HLA-DRB1, HLCS, HMGA2, HMGB3, ARHGAP45, HNRNPA2B1, HNRNPH2, HNRNPK, HNRNPU, HPD, HPRT1, HRAS, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTR3A, HTT, HUWE1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT27, IGBP1, IGF1, IGF1R, IKBIP, ELP1, IL17RD, IL1RAPL1, IL20RB, IMPDH2, INO80, INPP5E, INPP5K, INS, INSR, IQCE, IQGAP3, IQSEC2, IRF9, IRX5, ISCA2, CRPPA, ITCH, ITGA4, ITGA5, ITGA7, ITIH6, ITK, ITPK1, ITPR1, ITSN2, IVD, IYD, JAG1, JAK2, JAM3, JMJD1C, JMJD7, PLA2G4B, KANK1, KANSL1, KANSL2, KARS1, KAT6A, KAT6B, KATNAL2, KATNB1, KCNA1, KCNB1, KCNC3, KCND2, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ4, KCNS1, KCNT1, KCTD7, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0100, WASHC5, RUBCN, KIAA0232, KIAA0586, WASHC4, KIAA1210, KIAA1217, JCAD, KIAA1549, MFSD4B, NEXMIF, KIF11, KIF1A, KIFBP, KIF2A, KIF4A, KIF5C, KIF7, KIRREL3, KISS1R, KLHL15, KLHL6, KLLN, KMT2A, KMT2C, KMT2D, KMT2E, KPTN, KRAS, KRT24, KRT81, KRT83, KRT86, KSR2, KYNU, L1CAM, L2HGDH, L3MBTL1, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LAPTM4B, LARGE1, LARP7, LARS1, LARS2, LAS1L, LBR, LCN10, LEMD3, LEPR, LHX3, LIAS, LIFR, LIN7B, LINS1, LLGL1, LMBRD1, LMNB1, LMTK3, LONP1, LORICRIN, LPA, LPIN1, LRGUK, LRP1, LRP2, LRP5, LRPPRC, LRRC29, LRRC4, LRRC41, LRRC69, LRRC7, LRRTM4, LTBP1, LTC4S, LUZP4, LY6G6F, LYST, LZTFL1, LZTR1, 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NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NF1, NFASC, NFAT5, NFIA, NFIX, NFKB2, NFU1, NFXL1, NGF, NGFR, NGLY1, NHLRC1, NHP2, NHS, NIN, NIPBL, NISCH, NKX2-1, NKX2-5, NLGN1, NLGN3, NLGN4X, NLGN4Y, NLRP3, NLRX1, NME7, NOP10, NOS1AP, NOTCH2, NOTCH3, NPC1, NPC2, NPEPPS, NPFFR2, NPHP1, NR0B1, NR2F1, NR3C2, NR4A2, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSMF, NSUN2, NSUN7, NT5C1B, NT5C2, NTNG1, NTRK1, NTRK2, NUAK1, NUBPL, NUDT7, NUP107, NUP62, NXPH3, OAS3, OBSL1, OCLN, OCRL, OFD1, OMG, OPA3, OPHN1, OPRL1, OR10V1, OR13H1, OR1J1, OR2M2, OR4M2, OR5AC2, OR8H1, OR8K3, ORC1,<\/p>\n<p>OSER1, OSGIN1, OTC, OTOGL, OTUD4, OTX2, OXTR, P2RY11, PACS1, PAFAH1B1, PAH, PAK3, PAM16, PANK2, PARN, PARP1, PAX1, PAX2, PAX3, PAX5, PAX6, PC, PCCA, PCCB, PCDH15, PCDH19, PCDHA13, PCDHB16, PCDHB4, PCK1, PCLO, PCNA, PCNT, PCOLCE, PDCD1, PDE4D, PDE6D, PDHA1, PDHX, PDIA4, PDK4, PDP1, 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