Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx ESK, analiza 413 genes asociados a anomalías esqueléticas descritas en las bases de datos clínicas actuales 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 |
|---|
| ABCC9 |
| ACAN |
| ACP5 |
| ACP4 |
| ACVR1 |
| ADAMTS10 |
| ADAMTS17 |
| ADAMTSL2 |
| AGA |
| AGPS |
| ALG12 |
| ALG3 |
| ALG9 |
| ALPL |
| ALX1 |
| ALX3 |
| ALX4 |
| AMBN |
| AMELX |
| AMER1 |
| ANKH |
| ANKRD11 |
| ANO5 |
| ANTXR2 |
| ARHGAP31 |
| ARL6 |
| ARSB |
| ARSL |
| ASXL1 |
| ASXL2 |
| ATP6V0A2 |
| ATP7A |
| B3GALT6 |
| B3GAT3 |
| B3GLCT |
| B4GALT7 |
| BBS1 |
| BBS10 |
| BBS12 |
| BBS2 |
| BBS4 |
| BBS5 |
| BBS7 |
| BBS9 |
| BHLHA9 |
| BMP1 |
| BMP2 |
| BMPER |
| BMPR1B |
| CFAP410 |
| C2CD3 |
| ODAPH |
| CA2 |
| CANT1 |
| CASR |
| CC2D2A |
| CCDC8 |
| CDC45 |
| CDH3 |
| CDKN1C |
| CDT1 |
| CEP120 |
| CEP290 |
| CHD7 |
| CHST14 |
| CHST3 |
| CHSY1 |
| CLCN5 |
| CLCN7 |
| CNNM4 |
| COG1 |
| COL10A1 |
| COL11A1 |
| COL11A2 |
| COL17A1 |
| COL1A1 |
| COL1A2 |
| COL2A1 |
| COL9A1 |
| COL9A2 |
| COL9A3 |
| COLEC11 |
| COMP |
| CREB3L1 |
| CREBBP |
| CRTAP |
| CSPP1 |
| CTNND1 |
| CTSA |
| CTSC |
| CTSK |
| CUL7 |
| CYP27B1 |
| CYP2R1 |
| DDR2 |
| DHCR24 |
| DHCR7 |
| DHODH |
| DIS3L2 |
| DLL3 |
| DLL4 |
| DLX3 |
| DLX5 |
| DMP1 |
| DNMT3A |
| DOCK6 |
| DPAGT1 |
| DPM1 |
| DSPP |
| DVL1 |
| DVL3 |
| DYM |
| DYNC2H1 |
| DYNC2LI1 |
| EBP |
| EED |
| EFTUD2 |
| EIF2AK3 |
| ENAM |
| ENPP1 |
| EOGT |
| ERF |
| ESCO2 |
| EVC |
| EVC2 |
| EXT1 |
| EXT2 |
| EXTL3 |
| EZH2 |
| FAM111A |
| FAM20A |
| FAM20C |
| TENT5A |
| CCNQ |
| FAM83H |
| FBN1 |
| FBN2 |
| FERMT3 |
| FGF10 |
| FGF16 |
| FGF23 |
| FGFR1 |
| FGFR2 |
| FGFR3 |
| FIG4 |
| FKBP10 |
| FLNA |
| FLNB |
| FN1 |
| FOXE1 |
| FUCA1 |
| FZD2 |
| GALNS |
| GALNT3 |
| GDF5 |
| GDF6 |
| GHR |
| GJA1 |
| GLB1 |
| GLI3 |
| GNAS |
| GNPAT |
| GNPTAB |
| GNPTG |
| GNS |
| GORAB |
| GPC6 |
| GPR68 |
| GSC |
| GUSB |
| GZF1 |
| HDAC8 |
| HES7 |
| HGSNAT |
| HOXA13 |
| HOXD13 |
| HPGD |
| HSPG2 |
| HYLS1 |
| CILK1 |
| IDH1 |
| IDS |
| IDUA |
| IFIH1 |
| IFITM5 |
| IFT122 |
| IFT140 |
| IFT172 |
| IFT43 |
| IFT52 |
| IFT80 |
| IFT81 |
| IHH |
| IKBKG |
| IL11RA |
| IL1RN |
| BPNT2 |
| INPPL1 |
| ITGB6 |
| KAT6B |
| KIAA0586 |
| KIAA0753 |
| KIF22 |
| KIF7 |
| KLK4 |
| KMT2D |
| LAMA3 |
| LAMB3 |
| LBR |
| LEMD3 |
| LIFR |
| LMBR1 |
| LMNA |
| LMX1B |
| LONP1 |
| LPIN2 |
| LRP4 |
| LRP5 |
| LTBP3 |
| MAFB |
| MAN2B1 |
| MAP3K7 |
| MASP1 |
| MATN3 |
| MEGF8 |
| MEOX1 |
| MESP2 |
| MGP |
| MKKS |
| MKS1 |
| MMP13 |
| MMP2 |
| MMP20 |
| MNX1 |
| MPDU1 |
| MSX2 |
| MYCN |
| NAGLU |
| NANS |
| NBAS |
| NEK1 |
| NEU1 |
| NF1 |
| NFIX |
| NIPBL |
| NKX3-2 |
| NLRP3 |
| NOG |
| NOTCH1 |
| NOTCH2 |
| NPR2 |
| NSD1 |
| NSDHL |
| OBSL1 |
| OFD1 |
| ORAI1 |
| ORC1 |
| ORC4 |
| ORC6 |
| OSTM1 |
| P3H1 |
| P4HB |
| PAPSS2 |
| PAX3 |
| PCNT |
| PCYT1A |
| PDE3A |
| PDE4D |
| PEX1 |
| PEX5 |
| PEX6 |
| PEX7 |
| PGM3 |
| PHEX |
| PHGDH |
| PIGT |
| PIGV |
| PIK3C2A |
| PIK3R1 |
| PITX1 |
| PLOD2 |
| PLS3 |
| POC1A |
| POLR1A |
| POLR1C |
| POLR1D |
| POP1 |
| POR |
| PPIB |
| PRKAR1A |
| PRMT7 |
| PSAT1 |
| PSPH |
| PTDSS1 |
| PTH1R |
| PTHLH |
| PTPN11 |
| PUF60 |
| PYCR1 |
| RAB23 |
| RAB33B |
| RASGRP2 |
| RBM8A |
| RBPJ |
| RECQL4 |
| RELT |
| RFT1 |
| RMRP |
| RNU4ATAC |
| ROGDI |
| ROR2 |
| RPGRIP1L |
| RPL13 |
| RUNX2 |
| SALL1 |
| SALL4 |
| SBDS |
| SCARF2 |
| SEC24D |
| SERPINF1 |
| SERPINH1 |
| SETD2 |
| SF3B4 |
| SFRP4 |
| SGSH |
| SH3BP2 |
| SH3PXD2B |
| SHOX |
| SKI |
| SLC10A7 |
| SLC13A5 |
| SLC17A5 |
| SLC24A4 |
| SLC26A2 |
| SLC29A3 |
| SLC34A1 |
| SLC34A3 |
| SLC35C1 |
| SLC35D1 |
| SLC39A13 |
| SLCO2A1 |
| SMAD3 |
| SMAD4 |
| SMARCAL1 |
| SMC1A |
| SMC3 |
| SMOC1 |
| SNRPB |
| SNX10 |
| SOST |
| SOX9 |
| SP7 |
| SPARC |
| SPINT2 |
| STIM1 |
| SUMF1 |
| TALDO1 |
| TAPT1 |
| TBCE |
| TBX15 |
| TBX3 |
| TBX4 |
| TBX5 |
| TBX6 |
| TBXAS1 |
| TCIRG1 |
| TCOF1 |
| TCTEX1D2 |
| TCTN2 |
| TCTN3 |
| TERT |
| TGFB1 |
| TGFB2 |
| TGFBR2 |
| TMCO1 |
| TMEM165 |
| TMEM216 |
| TMEM231 |
| TMEM38B |
| TNFRSF11A |
| TNFRSF11B |
| TNFSF11 |
| TP63 |
| TRAPPC2 |
| TREM2 |
| TRIP11 |
| TRPS1 |
| TRPV4 |
| TRPV6 |
| TTC21B |
| TTC8 |
| TWIST1 |
| TXNL4A |
| TYROBP |
| USP9X |
| VDR |
| WDPCP |
| WDR19 |
| DYNC2I2 |
| WDR35 |
| DYNC2I1 |
| WDR72 |
| CCN6 |
| WNT1 |
| WNT10B |
| WNT5A |
| WNT7A |
| XRCC4 |
| XYLT1 |
| XYLT2 |
| YY1 |
| ZMPSTE24 |
| ZSWIM6 |
