Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EV, analiza 385 genes asociados a enfermedades de la visión 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 |
|---|
| ATP6 |
| ND1 |
| ND4 |
| ND6 |
| ABCA4 |
| ABHD12 |
| ACO2 |
| ACTB |
| ACTG1 |
| ADAM9 |
| ADAMTS10 |
| ADAMTS17 |
| ADAMTS18 |
| ADGRV1 |
| AGBL5 |
| AGK |
| AGPS |
| AHI1 |
| AIPL1 |
| AIRE |
| ALDH18A1 |
| ALDH1A3 |
| ALMS1 |
| ARHGEF18 |
| ARL2BP |
| ARL6 |
| ATF6 |
| ATOH7 |
| B3GLCT |
| BBS1 |
| BBS10 |
| BBS12 |
| BBS2 |
| BBS4 |
| BBS5 |
| BBS7 |
| BBS9 |
| BCOR |
| BEST1 |
| BFSP1 |
| BFSP2 |
| BMP4 |
| LRMDA |
| C12orf57 |
| C12orf65 |
| C19orf12 |
| C1QTNF5 |
| CFAP410 |
| PCARE |
| C8orf37 |
| CABP4 |
| CACNA1A |
| CACNA1F |
| CACNA2D4 |
| CAPN5 |
| CC2D2A |
| CDH23 |
| CDH3 |
| CDHR1 |
| CEP164 |
| CEP290 |
| CEP78 |
| CERKL |
| CFH |
| CHD7 |
| CHM |
| CHMP4B |
| CHRDL1 |
| CHST6 |
| CIB2 |
| CISD2 |
| CLDN19 |
| CLN3 |
| CLN5 |
| CLN6 |
| CLN8 |
| CLRN1 |
| CNGA1 |
| CNGA3 |
| CNGB1 |
| CNGB3 |
| CNNM4 |
| COL11A1 |
| COL18A1 |
| COL2A1 |
| COL4A1 |
| COL8A2 |
| CPAMD8 |
| CRB1 |
| CREBBP |
| CRX |
| CRYAA |
| CRYAB |
| CRYBA1 |
| CRYBA4 |
| CRYBB1 |
| CRYBB2 |
| CRYBB3 |
| CRYGC |
| CRYGD |
| CRYGS |
| CSPP1 |
| CTNNB1 |
| CTSD |
| CWC27 |
| CYP1B1 |
| CYP27A1 |
| CYP4V2 |
| CYP51A1 |
| DCN |
| DDX58 |
| DHCR7 |
| DHDDS |
| DNM1L |
| DNMBP |
| EED |
| EFEMP1 |
| EIF2B2 |
| ELOVL4 |
| EPHA2 |
| ERCC2 |
| ERCC3 |
| ERCC6 |
| ERCC8 |
| EYS |
| FAM126A |
| FAM161A |
| FAT1 |
| FLVCR1 |
| FOXC1 |
| FOXE3 |
| FRAS1 |
| FREM1 |
| FREM2 |
| FRMD7 |
| FTL |
| FYCO1 |
| FZD4 |
| FZD5 |
| GALK1 |
| GALT |
| GCNT2 |
| GEMIN4 |
| GJA1 |
| GJA3 |
| GJA8 |
| GNAT1 |
| GNAT2 |
| GNPAT |
| GNPTG |
| GPR143 |
| GPR179 |
| GRIP1 |
| GRK1 |
| GRM6 |
| GSN |
| GTF2H5 |
| GUCA1A |
| GUCA1B |
| GUCY2D |
| HARS1 |
| HCCS |
| HGSNAT |
| HMX1 |
| HSF4 |
| HTRA2 |
| IDH3A |
| IDH3B |
| IFIH1 |
| IFT140 |
| IKBKG |
| IMPDH1 |
| IMPG1 |
| IMPG2 |
| INPP5E |
| INPP5K |
| IQCB1 |
| JAM3 |
| KCNJ13 |
| KCNV2 |
| KERA |
| KIAA1549 |
| KIF11 |
| KIZ |
| KLHL7 |
| KMT2D |
| KRT12 |
| KRT3 |
| LCA5 |
| LCAT |
| LIM2 |
| LMX1B |
| LONP1 |
| LRAT |
| LRIT3 |
| LRP2 |
| LRP5 |
| LSS |
| LTBP2 |
| LYST |
| LZTFL1 |
| MAB21L2 |
| MAF |
| MAK |
| MAN2B1 |
| MERTK |
| MFF |
| MFN2 |
| MFRP |
| MFSD8 |
| MIP |
| MIR184 |
| MKKS |
| MKS1 |
| MSMO1 |
| MYH9 |
| MYO7A |
| MYOC |
| MYRF |
| NDP |
| NF2 |
| NHS |
| NMNAT1 |
| NPHP1 |
| NPHP3 |
| NPHP4 |
| NR2E3 |
| NR2F1 |
| NRL |
| NYX |
| OAT |
| OCA2 |
| OCRL |
| OFD1 |
| OPA1 |
| OPA3 |
| OPN1LW |
| OPN1MW |
| OTX2 |
| OVOL2 |
| P3H2 |
| PANK2 |
| PAX2 |
| PAX6 |
| PCDH15 |
| PCYT1A |
| PDE6A |
| PDE6B |
| PDE6C |
| PDE6G |
| PEX1 |
| PEX10 |
| PEX11B |
| PEX12 |
| PEX13 |
| PEX14 |
| PEX16 |
| PEX19 |
| PEX2 |
| PEX26 |
| PEX3 |
| PEX5 |
| PEX6 |
| PEX7 |
| PHYH |
| PIK3R1 |
| PIKFYVE |
| PITX2 |
| PITX3 |
| PLA2G5 |
| POC1B |
| PORCN |
| PPT1 |
| PRCD |
| PRDM5 |
| PROM1 |
| PRPF3 |
| PRPF31 |
| PRPF4 |
| PRPF6 |
| PRPF8 |
| PRPH2 |
| PRPS1 |
| PRSS56 |
| PUF60 |
| PXDN |
| RAB18 |
| RAB28 |
| RAB3GAP1 |
| RAB3GAP2 |
| RARB |
| RAX |
| RAX2 |
| RBP3 |
| RBP4 |
| RCBTB1 |
| RD3 |
| RDH12 |
| RDH5 |
| REEP6 |
| RGS9 |
| RHO |
| RLBP1 |
| RP1 |
| RP1L1 |
| RP2 |
| RP9 |
| RPE65 |
| RPGR |
| RPGRIP1 |
| RPGRIP1L |
| RS1 |
| RTN4IP1 |
| SAG |
| SALL4 |
| SBF2 |
| SC5D |
| SCAPER |
| SDCCAG8 |
| SH3PXD2B |
| SHH |
| SIL1 |
| SIX6 |
| SLC16A12 |
| SLC24A1 |
| SLC24A5 |
| SLC25A46 |
| SLC2A1 |
| SLC33A1 |
| SLC38A8 |
| SLC45A2 |
| SLC4A11 |
| SLC52A2 |
| SMO |
| SMOC1 |
| SNRNP200 |
| SOX2 |
| SPATA7 |
| SPG7 |
| SRD5A3 |
| SSBP1 |
| STRA6 |
| TACSTD2 |
| TBC1D20 |
| TDRD7 |
| TEK |
| TENM3 |
| TFAP2A |
| TGFBI |
| TIMM8A |
| TIMP3 |
| TMEM126A |
| TMEM237 |
| TMEM98 |
| TOPORS |
| TPP1 |
| TRIM32 |
| TRPM1 |
| TSPAN12 |
| TTC8 |
| TTLL5 |
| TUB |
| TULP1 |
| TYR |
| TYRP1 |
| UBIAD1 |
| USH1C |
| USH1G |
| USH2A |
| VCAN |
| VIM |
| VPS13B |
| VSX1 |
| VSX2 |
| WDPCP |
| WDR19 |
| WFS1 |
| WHRN |
| WRN |
| XYLT2 |
| YAP1 |
| ZEB1 |
| ZNF408 |
| ZNF423 |
| ZNF469 |
