Panel genetic autism

Panelul genetic Autism este o analiză complexă de secvențiere de nouă generație destinată identificării cauzelor genetice asociate tulburărilor din spectrul autist (TSA) și altor tulburări de neurodezvoltare.

Tulburările din spectrul autist (TSA) reprezintă un grup de condiții neurodezvoltative caracterizate prin dificultăți de comunicare, interacțiune socială și prezența unor comportamente repetitive sau interese restrânse.

Spectrul este foarte larg — de la forme ușoare, cu inteligență normală și integrare socială bună, până la forme severe, asociate cu dizabilitate intelectuală, tulburări motorii, epilepsie sau alte anomalii de dezvoltare.

Autismul nu este o boală unică, ci o manifestare comună a unor cauze multiple, în care factorii genetici joacă un rol esențial.

Lista genelor analizate:

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,

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,

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, MAB21L2, MACC1, MACF1, MADD, MAF, MAGEC3, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MANSC1, MAOA, MAP2K1, MAP2K2, MAP3K15, MAP4, MAPT, MARS2, MASP1, MAST1, MAT1A, MATN4, MBD1, MBD4, MBD5, MBD6, MBTPS2, MCCC1, MCF2, MCM3AP, MCM9, MCOLN1, MCPH1, MDM2, MDN1, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MEGF11, MEIS2, METTL14, METTL23, METTL2B, MFRP, MFSD8, MGAT2, MGME1, MGP, MIB1, MICAL3, MICALCL, MID1, MID2, MKKS, MRTFB, MKS1, MLC1, MLLT10, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP19, MMP8, MMRN2, MNX1, MOB4, MOCS1, MOGS, MOV10, MPC1, MPDU1, MPDZ, MPHOSPH8, MPL, MPLKIP, MPP6, MPV17, MR1, MRE11, MRPL3, MS4A10, MSMO1, MTF1, MTFMT, MTHFR, MTHFS, MTMR12, MTMR2, MTMR8, MTMR9, MTO1, MTPAP, MTR, MTRR, MTSS2, MUC1, MMUT, MVK, MXRA5, MYB, MYBBP1A, MYCBP2, MYCN, MYEF2, MYH10, MYH14, MYH3, MYH9, MYO5A, MYO7B, MYOCD, MYOF, MYOT, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NAV1, NAV2, NBN, NCAPD2, NCKAP1, NCS1, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, 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,

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, PDSS1, PDZD2, PECR, PEPD, PER1, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKFB1, PGAP1, PGAP2, PGAP3, PGBD4, PGK1, PGM3, PHACTR1, PHF2, PHF20, PHF3, PHF6, PHF8, PHGDH, PHIP, PHYH, PIAS1, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIK3CA, PIK3R1, PIK3R2, PIK3R5, PIR, PIWIL4, PKHD1L1, PLA2G6, PLAT, PLCB4, PLCD4, PLEC, PLK4, PLOD3, PLP1, PLP2, PLXNA3, PLXNB1, PLXNB3, PMM2, PNKP, PNP, PNPLA1, PNPLA6, PNPT1, POC1A, POGZ, POLA1, POLG, POLG2, POLR1C, POLR1D, POLR2A, POLR2M, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP1CB, PPP1R15B, PPP2R1A, PPP2R1B, PPP2R2B, PPP2R5D, PPT1, PQBP1, PRCP, PRDX4, PRF1, PRICKLE2, PRKAR1A, PRKD1, PRKRA, PRMT9, PRNP, PROC, PRODH, PROK2, PROKR2, PROX2, PRPF39, PRPS1, PRRT2, PRSS12, PRTG, PSAP, PSAT1, PSEN1, PSEN2, PSMA7, PSMB8, PSPH, PTCH1, PTCH2, PTCHD1, PTCHD3, PTDSS1, PTEN, PTH2R, PTK7, PTPN11, PTPN23, PTPRK, PTPRT, PTRH2, PTS, PUF60, PURA, PUS1, NECTIN1, PWWP2A, PYCR1, PYCR2, PYGO1, QARS1, QDPR, RAB11FIP5, RAB18, RAB23, RAB2A, RAB34, RAB39B, RAB3GAP1, RAB3GAP2, RABGGTA, RABL6, RAD21, RAD21L1, RAD50, RAF1, RAI1, RALGDS, RANBP6, RAPGEF1, RAPGEF4, RARB, RARS1, RARS2, RASA2, RBBP8, RBM10, RBM28, RBM43, RBM8A, RBMX, RBPJ, RDH11, RECQL4, RELN, RERE, REST, RFT1, RFX2, RFX8, RGMA, RGS7, RIMS1, RIMS3, RIPK2, RIPK4, RIT1, RLIM, RNASEH2A, RNASEH2C, RNASET2, RNF113A, RNF125, RNF128, RNF168, RNF216, RNF32, RNF38, ROGDI, ROR2, ROS1, RPE65, RPGRIP1L, RPIA, RPL10, RPL35A, RPS19, RPS28, RPS6KA3, RRM2B, RTEL1, RTF1, RTN4RL1, RTTN, RUVBL1, SACS, SALL1, SAMHD1, SAR1B, SASS6, SATB2, SATL1, SBDS, SBF1, SC5D, SCARB2, SCN1A, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCRIB, SCUBE2, SDCCAG8, SDHA, SDR39U1, SEC23A, SEC24D, SEMA3A, SEMA3E, SEMA4G, SEMA6D, SELENON, SEPSECS, SEPTIN9, SERAC1, SERPINA7, SERPINB4, SESN2, SET, SETBP1, SETD2, SETD5, SETDB1, SETDB2, SETX, SF3B4, SFTPD, SFXN4, SGCE, SGSH, SGSM3, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1, SIL1, SIM1, SIPA1L1, SIX3, SKI, SLC12A1, SLC12A6, SLC13A5, SLC16A2, SLC17A3, SLC17A5, SLC17A9, SLC19A2, SLC19A3, SLC1A1, SLC1A3, SLC1A4, SLC22A25, SLC22A9, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A39, SLC25A43, SLC26A4, SLC26A5, SLC29A4, SLC2A1, SLC2A10, SLC2A2, SLC30A5, SLC31A1, SLC33A1, SLC35A2, SLC35A3, SLC35C1, SLC36A2, SLC39A5, SLC46A1, SLC4A4, SLC52A2, SLC52A3, SLC5A5, SLC6A1, SLC6A13, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SLC9A9, SLCO1B3, SLCO1C1, SLFN5, SLIT3, SLITRK1, SLITRK6, SLK, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMC1A, SMC3, SMCHD1, SMOC1, SMPD1, SMS, SMYD3, SNAP25, SNAP29, SNAPC5, SNIP1, SNRK, SNRPB, SNRPN, SNTG1, SNX14, SNX5, SOBP, SOGA3, SON, SORCS1, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX7, SPAG17, SPARC, SPAST, SPATA13, SPATA21,SPATA32, SPATA5, SPATA5L1, SPECC1L, CBY2, SPG11, SPART, SPG21, SPINK5, SPN, SPOCK1, SPP2, SPR, SPRY4, SPTAN1, SPTBN2, SPTBN5, SQSTM1, SRCAP, SRD5A3, SRGAP3, SRPK2, SRPX2, SRSF7, SSR4, SSX1, ST3GAL3, ST3GAL5, ST3GAL6, ST7, STAC3, STAG1, STAMBP, STARD6, STAT2, STIL, STIM1, STRA6, STRADA, STS, STT3A, STT3B, STX11, STX1B, STXBP1, STXBP3, STXBP5L, SUCLA2, SUCLG1, SUFU, SULT1C3, SUMF1, SUOX, SUPT16H, SURF1, KMT5B, SV2B, SVIL, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SZT2, TAAR2, TAC3, TACO1, TACR3, TAF1, TAF2, TAF6, TANC2, TARDBP, TARS2, TAS2R3, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D30, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TBX18, TBXAS1, TCF12, TCF20, TCF3, TCF4, TCF7L1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TECTA, TENM1, TET1, TEX13B, TFAP2A, TFAP2B, TG, TGDS, TGFB1, TGFBR1, TGFBR2, TGM4, TH, THBS1, THOC2, THOC6, THPO, THRA, THRB, THSD7A, THSD7B, TINF2, TK2, TKT, TM4SF19, TM4SF20, TMC3, TMCO1, TMEM107, TMEM135, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, PGAP6, TMEM92, TMLHE, TNFRSF11A, TNFRSF1A, TNFSF18, TNFSF4, TNKS, TNPO2, TOP1, TOPORS, TP63, TPI1, TPK1, TPP1, TPRN, TRAF3IP1, TRAF7, TRAPPC11, TRAPPC9, TREM2, TREX1, TRH, TRIM17, TRIM32, TRIO, TRIP12, TRMT10A, TRNT1, TROAP, RO60, TRPC5, TRPM1,TRPM6, TRPM7, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN54, TSFM, TSHB, TSHR, TSPAN17, TSPAN7, TTC19, TTC8, TTF2, TTI2, TTPA, TUBA1A, TUBA3E, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP5, TUBGCP6, TULP1, TUSC3, TWIST1, TWIST2, TXLNB, TYK2, TYROBP, UBA7, UBB, UBE2A, UBE2T,UBE3A, UBE3B, UBE3C, UBN2, UBR1, UBR3, UBR7, UFD1, UGT2A1, UMPS, UNC13B, UNC13C, UNC79, UNC80, UNC93A, UPB1, UPF3B, UQCC2, UQCC3, UQCRQ, UROC1, UROS, USH2A, USP15, USP27X, USP30, USP46, USP54, USP9X, UTP6, VAMP2, VARS2, VAV3, VAX1, VCP, VIP, VIPAS39, VLDLR, VPS13A, VPS13B, VPS33B, VPS37A, VPS45, VPS4A, VPS53, VRK1, VSIG1, VWA3B, WAC, WDFY3, WDPCP, WDR11, WDR31, DYNC2I2, WDR4, WDR45, WDR45B, WDR62, CFAP251, WDR73, WDR81, WDR93, WFS1, WNT1, WNT5A, WWC3, WWOX, WWP2, XPA, XPNPEP3, XPO5, XRN2, XYLT1, YAP1, YY1, ZAN, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB33, ZBTB40, ZBTB41, ZC3H12B, ZC3H14, ZC4H2, ZCCHC12, RTL4, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFP69, ZFPL1, ZFPM2, ZFYVE26, ZIC2, ZKSCAN5, ZMYM2, ZMYM3, ZMYM6, ZMYND11, ZNF157, ZNF213, ZNF292, ZNF311, ZNF335, ZNF365, ZNF407, ZNF41, ZNF420, ZNF45, ZNF451, ZNF526, ZNF559, ZNF582, ZNF589, ZNF638, ZNF668, ZNF674, ZNF683, ZNF711, ZNF75D, ZNF77, ZNF774, ZNF780B, ZNF79, ZNF81, ZNF813, ZSCAN29, ZSWIM6.

*Termen de execuție:

45 zile lucrătoare
*Termenul de execuție reprezintă numărul maxim de zile lucrătoare în care va fi eliberat rezultatul. Acest termen are rol informativ și va fi confirmat în punctul de recoltare.
Ghid de recoltare (recomandări)

Descrierea serviciului

Testul utilizează tehnologia Next Generation Sequencing (NGS) pentru secvențierea simultană a peste 2.500 de gene cunoscute a fi implicate în tulburările din spectrul autist, întârzierea de dezvoltare, dizabilitatea intelectuală și alte sindroame neurogenetice și permite o rată de identificare a cauzei genetice de până la 40% la pacienții cu autism idiopatic.

Raportul final include interpretarea variantelor conform ghidurilor ACMG, corelarea cu fenotipul pacientului și recomandări pentru consiliere genetică.

Afecțiuni sau simptome asociate

  • tulburări din spectrul autist (TSA)
  • întârziere globală de dezvoltare
  • tulburări de limbaj și comunicare
  • dizabilitate intelectuală de cauză necunoscută
  • episoade de regres neurodezvoltativ
  • comportamente stereotipe sau tulburări de comportament
  • epilepsie asociată fenotipului autist
  • suspiciune de sindroame genetice cu afectare cognitivă și comportamental

Cui se adresează

  • copiilor sau adulților diagnosticați cu tulburări de spectru autist
  • pacienților cu semne de întârziere globală de dezvoltare sau dizabilitate intelectuală nediagnosticată
  • persoanelor cu antecedente familiale de tulburări neurodezvoltative
  • familiilor care doresc o evaluare genetică completă pentru stabilirea cauzei și a riscului de recurență

Metodologie de testare

  • secvențiere NGS a tuturor exoanelor și regiunilor intron-exon ale genelor implicate
  • analiză bioinformatică avansată pentru identificarea variațiilor punctuale și a delețiilor/duplicațiilor
  • clasificare a variantelor conform criteriilor ACMG 2015

Gene frecvent implicate:

ADNP, ANK2, ARID1B, CHD8, DYRK1A, FOXP1, GRIN2B, MECP2, MBD5, NLGN3, NLGN4X, NRXN1, PTEN, SCN2A, SHANK2, SHANK3, SYNGAP1, TCF4, TSC2

Beneficii și importanță clinică

  • identifică cauzele genetice în până la 30–40% din cazurile de autism idiopatic
  • permite stabilirea prognosticului, consilierea familială și orientarea terapeutică
  • contribuie la evitarea testărilor inutile și la individualizarea îngrijirii
  • permite evaluarea riscului de recurență la rudele de gradul I

Particularități și limitări

  • testul analizează regiunile codante ale genelor implicate, fără a acoperi variantele din regiunile profund intronice sau promotorii
  • nu evaluează mozaicismul la nivel scăzut (<10%)
  • rezultatele pot include variante de semnificație incertă (VUS), care necesită corelare clinică și reevaluare periodică
  • în cazuri rare, pot fi necesare teste suplimentare (array-CGH, exom complet sau testare parentală pentru segregare)

Tip probă și condiții de recoltare

  • sânge integral – 2 × 6 ml în vacutainer cu EDTA
  • păstrare și transport: temperatura camerei (2–25 °C), fără congelare

Analize asociate recomandate

  • array-CGH genomic – pentru detectarea anomaliilor cromozomiale extinse
  • exom clinic extins (WES) – în caz de rezultat negativ la panel
  • panel epilepsie – dacă fenotipul include convulsii sau anomalii EEG
  • testare parentală (segregare) – pentru interpretarea variantelor de semnificație incertă (VUS)

Caracteristici analize medicale

Se poate recolta la domiciliu: Da
Genetică: Genetica în Neuropsihiatrie
Denumiri alternative: panel NGS autism
Denumiri alternative: panel genetic tulburări de spectru autist
Denumiri alternative: autism (analiză genetică)
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