Panel genetic Dizabilitate intelectuala - Intellectual disability panel

Panelul analizează un spectru foarte larg de gene implicate în dezvoltarea creierului, migrarea neuronală, formarea sinapselor, reglarea epigenetică și metabolismul neuronal. Testul este conceput pentru identificarea cauzelor genetice ale dizabilității intelectuale, întârzierii globale de dezvoltare și tulburărilor complexe de neurodezvoltare, adesea asociate cu epilepsie, tulburări de comportament sau malformații congenitale.

Gene analizate

ABAT, ABCA7, ABCD1, ACE, ACHE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADSL, AFF2, AHDC1, AHI1, AIMP1, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMMECR1, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, AP1S1, AP1S2, AP2M1, AP3B1, AP4B1, AP4M1, ARFGEF2, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARX, ASAH1, ASCL1, ASH1L, ASPM, ASTN2, ASXL1, ASXL3, ATP13A2, ATP1A1, ATP1A3, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, B3GALNT2, B4GAT1, B9D1, B9D2, BBS4, BCAP31, BCKDK, BCL11A, BCOR, BCS1L, BDNF, BLOC1S1, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRWD3, C12orf57, C19orf12, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNB2, CAMK2A, CAMK2B, CAMK2G, CAMTA1, CARD11, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CCDC40, CCDC88C, CDH11, CDH15, CDK5RAP2, CDKL5, CDON, CENPF, CEP135, CEP152, CEP290, CEP41, CEP63, CERT1, CHAMP1, CHD1, CHD2, CHD3, CHD7, CHD8, CHL1, CHMP1A, CIB2, CIC, CIT, CLCN4, CLN8, CLP1, CLTC, CNGB3, CNKSR2, CNTN4, CNTNAP2, COASY, COL4A1, CPAP, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSMD1, CSPP1, CTC1, CTCF, CTNNA3, CTNNB1, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYB5R3, CYP11B1, CYP27A1, DARS1, DARS2, DCAF17, DCX, DDC, DDX3X, DEAF1, DHCR7, DIP2B, DKC1, DLG3, DLG4, DLGAP2, DLX3, DMXL2, DNM1, DNMT3A, DOCK8, DPF2, DPP6, DPYD, DRD3, DST, DTNBP1, DVL3, DYM, DYNC1H1, DYRK1A, EBF3, EDC3, EDN3, EDNRB, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELOVL4, ELP2, EMC10, EMX2, EP300, EPB41L1, ETFB, EXOC6B, EXOSC3, EXOSC9, EXT1, EZH2, FAN1, FANCB, FBN1, FBXO11, FERRY3, FGA, FGD1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR1, FMN2, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FRMPD4, FTL, FTO, FTSJ1, G6PD, GABBR2, GABRA5, GABRB3, GAD1, GAMT, GATAD2B, GATM, GCK, GDI1, GDNF, GFAP, GIGYF2, GJC2, GK, GLI2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GNB1, GPC3, GPC4, GPC6, GPHN, GPT2, GPX1, GRIA1, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC2, HIVEP2, HNMT, HNRNPH2, HNRNPU, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD11B1, HSD17B10, HSPD1, HUWE1, HYCC1, HYDIN, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1RAPL1, IMPA1, INPP5E, INVS, IQSEC2, IRF2BPL, IRX5, ITGA7, ITGB3, ITPR1, JAG1, KANK1, KANSL1, KAT6A, KAT6B, KATNB1, KCNB1, KCNC1, KCNC3, KCND3, KCNJ10, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KDM4B, KDM5B, KDM5C, KDM6A, KIF11, KIF14, KIF1A, KIF5C, KIF7, KIFBP, KIRREL3, KMT2A, KMT2C, KMT2D, KMT5B, KNL1, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEP, LINS1, LMAN2L, LMX1B, LRBA, LRP1, LRP2, LZTR1, MACF1, MAGEL2, MAGT1, MAN1B1, MAOA, MBD5, MBOAT7, MBTPS2, MCCC2, MCM4, MCM6, MCPH1, MECP2, MECR, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEIS2, METTL23, MFRP, MFSD2A, MGAT2, MIB1, MID1, MITF, MKKS, MKS1, MLC1, MOCS1, MPDZ, MSMO1, MSR1, 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, MTHFR, MTM1, MTOR, MTR, MTRFR, MYCN, MYO1E, MYO5A, MYO9B, MYT1L, NAA10, NAA15, NACC1, NAGA, NALCN, NBEA, NCAPD3, NDE1, NDP, NDST1, NDUFA1, NECTIN1, NEK10, NEXMIF, NF1, NFIA, NFIB, NFIX, NHEJ1, NHS, NIPA1, NIPBL, NLGN3, NLGN4X, NOTCH2, NPHP1, NPHP3, NR2F1, NR3C2, NRXN1, NSD1, NSDHL, NSMCE3, NSUN2, NTRK1, NUP133, NUS1, OCLN, OCRL, ODAD4, OFD1, OPHN1, ORC1, OTC, P4HA2, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX6, PBX1, PCDH15, PCDH19, PCNT, PDCD1, PDE6D, PDHA1, PER2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGK1, PHF6, PHF8, PHIP, PIGA, PIGC, PIGG, PIGL, PIGN, PIGO, PIGV, PIK3R2, PITX1, PITX2, PLA2G6, PLCB1, PLK1, PLK4, PLN, PLP1, PNKP, POGZ, POLA1, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PORCN, POT1, PPM1D, PPOX, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKCA, PRKN, PRODH, PRPS1, PRSS12, PSMD12, PTCH1, PTCHD1, PTEN, PTPN11, PTPRC, PTS, PURA, PUS3, PXDN, PYCR1, PYCR2, QARS1, QRICH1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAI1, RAP1GDS1, RARS2, RBBP8, RBFOX1, RBM10, RELN, RERE, REST, RET, RIMS1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, ROBO2, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RTTN, RUSC2, RXYLT1, SALL1, SAMHD1, SASH1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SDCCAG8, SDHA, SEPSECS, SET, SETBP1, SETD2, SETD5, SF3B1, SGCA, SHANK2, SHH, SHROOM4, SIL1, SIN3A, SIX3, SLC12A5, SLC16A2, SLC1A1, SLC25A12, SLC25A15, SLC25A19, SLC27A4, SLC2A1, SLC35A2, SLC35A3, SLC4A10, SLC4A4, SLC6A1, SLC6A17, SLC6A3, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SNAI2, SNAP25, SNAP29, SNIP1, SOBP, SOD1, SOX10, SOX11, SOX2, SOX3, SOX5, SPAST, SRCAP, SRD5A3, ST3GAL3, STAG1, STAMBP, STIL, STRA6, STXBP1, SYN1, SYN2, SYNE1, SYNGAP1, SYNJ1, SYP, TAF13, TAF2, TAF6, TAOK1, TBC1D20, TBC1D23, TBC1D24, TBCE, TBL1XR1, TBR1, TBX1, TBX3, TCF20, TCF4, TCOF1, TCTN1, TCTN2, TCTN3, TECR, TECTA, TET2, TFAP2A, TGIF1, THRA, THRB, TIMM8A, TINF2, TLK2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TMTC3, TNIK, TOE1, TPO, TRAF7, TRAPPC9, TREX1, TRIO, TRIP12, TRMT10A, TRPC6, TRPM1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUSC3, TYR, UBE2A, UBE3A, UBE3B, UBR1, UNC80, UPF3B, UROC1, USH2A, USP9X, USP9Y, VDR, VLDLR, VPS13B, VPS53, VRK1, WAC, WASHC4, WDFY3, WDR26, WDR45, WDR62, WDR81, WNT1, WNT5A, WWOX, YWHAE, YY1, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMYND11, ZNF292, ZNF335, ZNF41, ZNF423, ZNF699, ZNF711, ZNF81.