Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EP analiza 408 genes asociados a epilepsia usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
| gene |
|---|
| AARS1 |
| ABAT |
| ACOX1 |
| ACTL6B |
| ADAR |
| ADGRG1 |
| ADPRS |
| ADSL |
| AFF3 |
| AIMP1 |
| AKT3 |
| ALDH5A1 |
| ALDH7A1 |
| ALG1 |
| ALG11 |
| ALG13 |
| ALG3 |
| ALG6 |
| ALG8 |
| ALG9 |
| ALPL |
| AMPD2 |
| AMT |
| AP2M1 |
| AP3B2 |
| ARFGEF2 |
| ARG1 |
| ARHGEF9 |
| ARID1B |
| ARV1 |
| ARX |
| ASAH1 |
| ASPA |
| ATN1 |
| ATP1A1 |
| ATP1A2 |
| ATP1A3 |
| ATP6V0A2 |
| ATP6V1A |
| ATP7A |
| ATRX |
| BCKDHA |
| BCKDHB |
| BCS1L |
| BOLA3 |
| BRAF |
| BRAT1 |
| BSCL2 |
| BTD |
| C12orf57 |
| CACNA1A |
| CACNA1B |
| CACNA1D |
| CACNA1E |
| CACNA1G |
| CACNA2D2 |
| CAD |
| CASK |
| CC2D2A |
| CDKL5 |
| CHD2 |
| CHRNA2 |
| CHRNA4 |
| CHRNB2 |
| CIC |
| CLCN4 |
| CLN3 |
| CLN8 |
| CLTC |
| CNKSR2 |
| CNNM2 |
| CNPY3 |
| CNTNAP2 |
| COG7 |
| COL18A1 |
| COL4A1 |
| COL4A2 |
| COQ2 |
| COQ4 |
| COQ9 |
| CPA6 |
| CREBBP |
| CSNK2B |
| CSTB |
| CTNNA2 |
| CTSD |
| CUL4B |
| CUX2 |
| CYFIP2 |
| D2HGDH |
| DBT |
| DCX |
| DDX3X |
| DEAF1 |
| DEGS1 |
| DENND5A |
| DEPDC5 |
| DHDDS |
| DHPS |
| DHX30 |
| DIAPH1 |
| DNM1 |
| DNM1L |
| DOCK7 |
| DPAGT1 |
| DPM1 |
| DPYD |
| DYNC1H1 |
| DYRK1A |
| EARS2 |
| EEF1A2 |
| EFTUD2 |
| EHMT1 |
| EIF2B1 |
| EIF2B2 |
| EIF2B3 |
| EIF2B4 |
| EIF2B5 |
| EIF2S3 |
| EIF3F |
| EML1 |
| EPG5 |
| EPM2A |
| ETHE1 |
| EXOSC3 |
| FARS2 |
| FBXL4 |
| FBXO11 |
| FGF12 |
| FKTN |
| FLNA |
| FOLR1 |
| FOXG1 |
| FRRS1L |
| FUCA1 |
| FUT8 |
| GABBR2 |
| GABRA1 |
| GABRA2 |
| GABRA5 |
| GABRB2 |
| GABRB3 |
| GABRG2 |
| GALC |
| GAMT |
| GBA |
| GFAP |
| GLB1 |
| GLDC |
| GLUD1 |
| GLUL |
| GM2A |
| GNAO1 |
| GNAQ |
| GNB1 |
| GNB5 |
| GOSR2 |
| GOT2 |
| GPAA1 |
| GPHN |
| GRIA4 |
| GRIN1 |
| GRIN2A |
| GRIN2B |
| GRIN2D |
| GTPBP2 |
| HACE1 |
| HAX1 |
| HCFC1 |
| HCN1 |
| HCN2 |
| HECW2 |
| HEPACAM |
| HEXA |
| HEXB |
| HMGCL |
| HNRNPH2 |
| HNRNPR |
| HNRNPU |
| HRAS |
| HSD17B4 |
| HTRA2 |
| IER3IP1 |
| IFIH1 |
| IKBKG |
| IQSEC2 |
| IRF2BPL |
| ITPA |
| KARS1 |
| KCNA2 |
| KCNB1 |
| KCNC1 |
| KCNJ10 |
| KCNJ11 |
| KCNK4 |
| KCNMA1 |
| KCNQ2 |
| KCNQ3 |
| KCNQ5 |
| KCNT1 |
| KCNT2 |
| KCTD3 |
| KCTD7 |
| KIAA1109 |
| NEXMIF |
| KIF1A |
| KIF2A |
| KIF5C |
| KMT2E |
| KRAS |
| LGI1 |
| LIAS |
| MACF1 |
| MAF |
| MAGI2 |
| MAP2K1 |
| MAP2K2 |
| MBD5 |
| MBOAT7 |
| MDH2 |
| MECP2 |
| MED12 |
| MEF2C |
| MFF |
| MFSD8 |
| MLC1 |
| MMACHC |
| MMADHC |
| MOCS1 |
| MOCS2 |
| MOGS |
| MPDU1 |
| MTHFR |
| MTOR |
| NACC1 |
| NAGA |
| NARS2 |
| NBEA |
| NDE1 |
| NDUFA1 |
| NDUFA10 |
| NDUFAF2 |
| NDUFAF5 |
| NDUFS4 |
| NDUFS8 |
| NDUFV1 |
| NGLY1 |
| NHLRC1 |
| NPRL2 |
| NPRL3 |
| NRXN1 |
| NSD1 |
| NSDHL |
| NTRK2 |
| NUS1 |
| OCLN |
| OPHN1 |
| OTUD6B |
| P4HTM |
| PACS1 |
| PACS2 |
| PAFAH1B1 |
| PAH |
| PAK1 |
| PARS2 |
| PCCA |
| PCCB |
| PCDH12 |
| PCDH19 |
| PDHA1 |
| PDHX |
| PET100 |
| PHACTR1 |
| PHGDH |
| PIGA |
| PIGB |
| PIGC |
| PIGG |
| PIGH |
| PIGN |
| PIGO |
| PIGQ |
| PIGT |
| PIGU |
| PIGW |
| PIK3R2 |
| PLAA |
| PLCB1 |
| PMM2 |
| PNKP |
| PNPO |
| POLG |
| POMGNT1 |
| POMT1 |
| PPP2CA |
| PPP3CA |
| PPT1 |
| PRICKLE1 |
| PRMT7 |
| PLPBP |
| PRRT2 |
| PSAP |
| PTPN23 |
| PTS |
| PURA |
| QARS1 |
| RAB11B |
| RAB18 |
| RALA |
| RARS2 |
| RELN |
| RFT1 |
| RHOBTB2 |
| RMND1 |
| RNASEH2A |
| RNASEH2B |
| RNASEH2C |
| RNASET2 |
| ROGDI |
| RORA |
| RORB |
| RTN4IP1 |
| RTTN |
| SAMHD1 |
| SCARB2 |
| SCN1A |
| SCN1B |
| SCN2A |
| SCN3A |
| SCN8A |
| SEPSECS |
| SETBP1 |
| SGSH |
| SIK1 |
| SLC12A5 |
| SLC13A5 |
| SLC16A2 |
| SLC1A2 |
| SLC1A4 |
| SLC25A1 |
| SLC25A12 |
| SLC25A22 |
| SLC2A1 |
| SLC35A2 |
| SLC6A1 |
| SLC6A8 |
| SLC9A6 |
| SMARCA2 |
| SMARCC2 |
| SMC1A |
| SMS |
| SNAP25 |
| SNORD118 |
| SPATA5 |
| SPTAN1 |
| ST3GAL5 |
| STAG1 |
| STAMBP |
| STRADA |
| STX1B |
| STXBP1 |
| SUCLA2 |
| SUOX |
| SURF1 |
| SYN1 |
| SYNGAP1 |
| SYNJ1 |
| SZT2 |
| TANGO2 |
| TBC1D24 |
| TBCD |
| TBCK |
| TBL1XR1 |
| TCF4 |
| TDP2 |
| TPP1 |
| TRAK1 |
| TREX1 |
| TRIM8 |
| TRPM6 |
| TSC1 |
| TSC2 |
| TSEN54 |
| TUBA1A |
| TUBB2A |
| TUBB2B |
| TUBB3 |
| TUBB4A |
| TUBG1 |
| UBA5 |
| UBE2A |
| UBE3A |
| UFM1 |
| UNC80 |
| VAMP2 |
| VARS1 |
| VPS11 |
| WARS2 |
| WASF1 |
| WDR37 |
| WDR45 |
| WDR73 |
| WWOX |
| YWHAG |
| ZBTB18 |
| ZDHHC9 |
| ZEB2 |
| ZNF142 |
