SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
AARS1, ACER3, ADAM22, ADGRV1, ADSL, AIMP2, ALDH7A1, ALG13, ALG14, AMT, AP3B2, ARHGEF9, ARV1, ARX, ASAH1, ATP13A2, ATP1A2, ATP1A3, ATP6V1A, ATP7A, ATP8A2, BRAF, BRAT1, BSCL2, CACNA1A, CACNA1D, CACNA1E, CACNB4, CAMK2A, CASK, CASR, CCDC88A, CDK5, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNNM2, CNPY3, CNTN2, CNTNAP2, CPA6, CPLX1, CSTB, CTSD, CYFIP2, DCX, DDC, DEAF1, DENND5A, DEPDC5, DHDDS, DIAPH1, DLAT, DNAJC5, DNM1, DOCK7, EEF1A2, EIF2S3, EMX2, EPM2A, EXT2, FGF12, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GBA1, GCSH, GLDC, GNAO1, GOSR2, GPAA1, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, HACE1, HCN1, HECW2, HEXA, HEXB, HNRNPU, IER3IP1, IQSEC2, ITPA, KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, LAMB1, LGI1, LIAS, LMNB2, MBD5, MDH2, MECP2, MED17, MEF2C, MFSD8, MOCS1, MOCS2, NACC1, NDE1, NECAP1, NHLRC1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRXN1, NTRK2, NUS1, OTUD6B, PACS2, PAFAH1B1, PCDH12, PCDH19, PDHA1, PDHX, PDP1, PIGA, PIGC, PIGN, PIGP, PIGT, PLAA, PLCB1, PLPBP, PNKP, PNPO, POLG, POLG2, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRRT2, PTPN23, QARS1, RAB11A, RBFOX1, RELN, RHOBTB2, ROGDI, RORB, RPH3A, RTN4IP1, RTTN, SARS1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SGCE, SHH, SIX3, SLC12A5, SLC13A5, SLC25A22, SLC2A1, SLC35A3, SLC45A1, SLC6A1, SLC6A8, SLC6A9, SLC9A6, SMC1A, SMS, SNAP25, SNIP1, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TCF4, TMTC3, TPP1, TRIO, TSC1, TSC2, TUBA1A, UBA5, UBE3A, UFC1, UFM1, VARS1, VRK2, WASF1, WDR45B, WWOX, YWHAG, ZEB2