EPIDASD Epilessia , disabilità intellettuale , disturbo dello spettro autistico

I 40 geni rilevanti per i test di malformazione cerebrale sono inclusi nel nostro pannello EPIDASD e possono essere ordinati solo come parte di un pannello EPIDASD.

ACSL4,ACTB,ACTG1,ACY1,ADAT3,ADCY5,ADGRG1,ADNP,ADRA2B,ADSL,AFF2,AFF3,AGA,AGO1,AGTR2,AHI1,AKT3,ALDH18A1,ALDH3A2,ALDH5A1,ALDH7A1,ALG1,ALG12,ALG13,ALG3,ALG6,AMT,ANK3,
ANKH,ANKRD11,ANOS1,AP1S2,AP4B1,AP4E1,AP4M1,AP4S1,ARFGEF2,ARHGEF6,ARHGEF9,ARID1A,ARID1B,ARSA,ARX,ASAH1,ASH1L,ASL,ASPA,ASPM,ASS1,ASXL3,ATP1A2,ATP1A3,ATP6AP2,ATP7A,ATP7B,
ATR,ATRX,AUTS2,BCKDHA,BCKDHB,BCKDK,BCOR,BPTF,BRWD3,BTD,C12orf57,CA8,CACNA1A,CACNA1C,CACNA1D,CACNA1E,CACNA1G,CACNB4,CACNG2,CAMK2A,CAMK2B,CAMTA1,CASK,CASR,CBS,
CC2D1A,CCDC22,CDH15,CDK5RAP2,CDK6,CDKL5,CENPJ,CEP152,CERS1,CERS2,CHD2,CHD7,CHD8,CHRNA2,CHRNA4,CHRNA7,CHRNB2,CLCN2,CLCN4,CLIC2,CLIP1,CLN3,CLN5,CLN6,CLN8,CLTC,CNKSR2,
CNOT3,CNTNAP2,COG5,COL4A1,COL4A3BP,COL6A2,CPS1,CRADD,CRBN,CREBBP,CSTB,CTNNB1,CTSF,CUL4B,CUX2,CYP27A1,CYP2U1,D2HGDH,DBT,DCX,DDHD2,DDX3X,DEAF1,DEPDC5,DHCR7,DHDDS,
DIP2B,DKC1,DLG2,DLG3,DMD,DNM1,DNM3,DNMT3A,DOCK3,DOCK7,DOCK8,DPAGT1,DPM1,DSCAM,DYNC1H1,DYRK1A,EEF1A2,EFTUD2,EHMT1,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EIF2S3,EIF4E,ELP2,
EN2,EP300,EPB41L1,EPG5,EPM2A,ERLIN2,ERMARD,EZR,FBXO31,FGD1,FLNA,FMN2,FMR1,FOLR1,FOXG1,FOXP1,FOXP2,FRMPD4,FTCD,FTSJ1,FUCA1,GABBR1,GABBR2,GABRA1,GABRA3,GABRA5,GABRB2,
GABRB3,GABRD,GABRG2,GALT,GAMT,GATAD2B,GATM,GBA,GCDH,GCH1,GCSH,GDI1,GK,GLDC,GLRA1,GLRB,GLUD1,GNAO1,GOSR2,GPAA1,GPC3,GRIA3,GRID2,GRIK2,GRIN1,GRIN2A,GRIN2B,GRIN2D,
GRIN3A,GRIN3B,GRIP1,GTF2I,GUSB,HACE1,HAL,HCCS,HCFC1,HCN1,HDAC4,HDAC8,HEPACAM,HESX1,HEXA,HGSNAT,HIVEP2,HNRNPU,HOXA1,HPRT1,HRAS,HSD17B10,HUWE1,IDH2,IDS,IDUA,IER3IP1,IGBP1,
IGF1,IGF1R,IL1RAPL1,IQSEC2,ITPA,ITPR1,IVD,KANSL1,KAT6B,KCNA1,KCNA2,KCNB1,KCND2,KCNH1,KCNH5,KCNH8,KCNJ10,KCNK9,KCNMA1,KCNQ2,KCNQ3,KCNQ5,KCNT1,KCNT2,KCTD7,KDM5C,KDM6A,
KIAA2022,KIF11,KIF1A,KIF2A,KIF4A,KIF5C,KIRREL3,KLF8,KLHL15,KMT2A,KMT2C,KMT2D,KMT2E,L1CAM,LAGE3,LAMA1,LAMC3,LAMP2,LARS2,LAS1L,LGI1,LINS1,LRP1,LRP2,LRP4,MAGT1,MAN1B1,MAN2B1,
MANBA,MAOA,MAP2K1,MAPK8IP1,MAPK8IP2,MAPK8IP3,MBD5,MBTPS2,MCPH1,MECP2,MED12,MED13L,MED17,MED23,MEF2C,MFSD8,MICU1,MID1,MID2,MMACHC,MOCS1,MOCS2,MPI,MTHFR,MTOR,
MTR,MUT,MYCN,MYT1L,NAA10,NAA15,NAGLU,NDE1,NDP,NDST1,NDUFA1,NECAP1,NEDD4L,NF1,NFIX,NHLRC1,NHS,NIPBL,NLGN3,NLGN4X,NPC1,NPC2,NPRL2,NPRL3,NRXN1,NRXN2,NSD1,NSDHL,NSUN2,
NTNG1,NTRK2,NUS1,OCLN,OCRL,OFD1,OPHN1,OSGEP,OTC,OTUD6B,PACS1,PACS2,PAFAH1B1,PAH,PAK3,PANK2,PAX6,PCCA,PCCB,PCDH19,PCNT,PDHA1,PDHX,PEX1,PEX12,PEX16,PEX6,PEX7,PGAP1,PGAP2,
PGAP3,PHF6,PHF8,PHGDH,PHIP,PIGA,PIGG,PIGL,PIGM,PIGN,PIGO,PIGP,PIGQ,PIGT,PIGV,PIGW,PIGX,PIGY,PIK3CA,PLCB1,PLP1,PMM2,PMPCB,PNKP,PNPO,POGZ,POLG,POMGNT1,PORCN,POU1F1,PPM1D,
PPP2R5D,PPP3CA,PPT1,PQBP1,PRICKLE1,PRICKLE2,PRKRA,PRODH,PRPS1,PRRT2,PRSS12,PSAP,PTCHD1,PTEN,PTPN11,PTS,PURA,QARS,QRICH1,RAB11A,RAB39B,RAI1,RBM10,RELN,RLIM,RNF135,RORA,RORB,
RPL10,RPS6KA3,SATB2,SCARB2,SCN1A,SCN1B,SCN2A,SCN3A,SCN8A,SERAC1,SERPIN1,SETBP1,SETD2,SETD5,SGSH,SHANK1,SHANK2,SHANK3,SHH,SHROOM4,SIX3,SKI,SLC12A5,SLC13A5,SLC16A2,SLC17A5,
SLC1A1,SLC1A2,SLC25A13,SLC25A15,SLC25A22,SLC2A1,SLC35A2,SLC35A3,SLC35C1,SLC46A1,SLC6A1,SLC6A4,SLC6A5,SLC6A8,SLC9A6,SMARCA2,SMARCA4,SMARCB1,SMARCE1,SMC1A,SMC3,SMS,SNAP25,
SOBP,SON,SOX11,SOX3,SOX5,SPAST,SPTAN1,SRCAP,SRD5A3,ST3GAL3,ST3GAL5,STIL,STX1A,STX1B,STXBP1,SYN1,SYNE1,SYNGAP1,SYP,SYT1,TAF1,TAF2,TBC1D24,TBL1XR1,TBR1,TBX1,TCF4,TECR,TGIF1,TIMM8A,
TMLHE,TNK2,TP53RK,TPP1,TPRKB,TRAPPC9,TREX1,TRIO,TRIP12,TSC1,TSC2,TSPAN7,TTI2,TUBA1A,TUBA8,TUBB2B,TUBB3,TUBG1,TUSC3,UBE2A,UBE3A,UBE3B,UBR1,UGDH,UNC80,UPB1,UPF3B,UROC1,USP27X,
USP9X,VCP,VLDLR,VPS13B,WASHC4,WDFY3,WDR45,WDR62,WWOX,YWHAG,ZBTB18,ZBTB20,ZC3H14,ZDHHC15,ZDHHC9,ZEB2,ZIC2,ZMYM3,ZMYND11,ZNF41,ZNF711,ZSWIM6