Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx IP analiza 253 genes asociados a inmunodeficiencias primarias 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 |
|---|
| ACD |
| ACP5 |
| ADA |
| ADAR |
| AICDA |
| AIRE |
| AK2 |
| AP3B1 |
| ARPC1B |
| ATM |
| ATP6AP1 |
| B2M |
| BACH2 |
| BLM |
| BLNK |
| BTK |
| C1QA |
| C1QB |
| C1QC |
| C1R |
| C1S |
| C2 |
| C3 |
| C4A |
| C4B |
| C5 |
| C6 |
| C7 |
| C8A |
| C8B |
| C9 |
| CARD11 |
| CARD14 |
| CARD9 |
| CARMIL2 |
| CASP10 |
| CASP8 |
| CCBE1 |
| CD19 |
| CD27 |
| CD3D |
| CD3E |
| CD3G |
| CD40 |
| CD40LG |
| CD46 |
| CD55 |
| CD59 |
| CD70 |
| CD79A |
| CD79B |
| CDCA7 |
| CEBPE |
| ADA2 |
| CFD |
| CFH |
| CFI |
| CFP |
| CHD7 |
| CIITA |
| CLPB |
| COPA |
| CORO1A |
| CSF2RA |
| CSF2RB |
| CSF3R |
| CTLA4 |
| CTPS1 |
| CTSC |
| CXCR4 |
| CYBA |
| CYBB |
| DCLRE1B |
| DCLRE1C |
| DKC1 |
| DNAJC21 |
| DNASE2 |
| DNMT3B |
| DOCK2 |
| DOCK8 |
| ELANE |
| EPG5 |
| ERCC6L2 |
| EXTL3 |
| F12 |
| FADD |
| FAS |
| FASLG |
| FAT4 |
| FERMT3 |
| FOXN1 |
| FOXP3 |
| G6PC3 |
| G6PD |
| GATA1 |
| GATA2 |
| GFI1 |
| GINS1 |
| HAX1 |
| HELLS |
| HPS1 |
| HPS4 |
| HPS6 |
| HTRA2 |
| ICOS |
| IFIH1 |
| IFNGR1 |
| IFNGR2 |
| IGLL1 |
| IKBKB |
| IKBKG |
| IKZF1 |
| IL10 |
| IL10RA |
| IL10RB |
| IL12B |
| IL12RB1 |
| IL17RA |
| IL17RC |
| IL1RN |
| IL21R |
| IL2RA |
| IL2RG |
| IL36RN |
| IL7R |
| INO80 |
| IRAK4 |
| IRF8 |
| ISG15 |
| ITCH |
| ITGB2 |
| ITK |
| JAGN1 |
| JAK3 |
| LAMTOR2 |
| LAT |
| LCK |
| LIG4 |
| LPIN2 |
| LRBA |
| LYST |
| MAGT1 |
| MALT1 |
| MAP3K14 |
| MCM4 |
| MEFV |
| MOGS |
| MSN |
| MTHFD1 |
| MVK |
| MYD88 |
| MYO5B |
| MYSM1 |
| NBN |
| NCF1 |
| NCF2 |
| NCF4 |
| NFKB1 |
| NFKB2 |
| NFKBIA |
| NHEJ1 |
| NHP2 |
| NLRC4 |
| NLRP12 |
| NLRP3 |
| NOD2 |
| NSMCE3 |
| ORAI1 |
| OTULIN |
| PARN |
| PEPD |
| PGM3 |
| PIK3CD |
| PIK3R1 |
| PLCG2 |
| PNP |
| POLA1 |
| POMP |
| PRF1 |
| PRKCD |
| PRKDC |
| PSMB8 |
| PSTPIP1 |
| PTPRC |
| RAB27A |
| RAG1 |
| RAG2 |
| RASGRP1 |
| RBCK1 |
| RFX5 |
| RFXANK |
| RFXAP |
| RIPK1 |
| RMRP |
| RNASEH2A |
| RNASEH2B |
| RNASEH2C |
| RNF168 |
| RORC |
| RPSA |
| RTEL1 |
| SAMHD1 |
| SBDS |
| SERPING1 |
| SGPL1 |
| SH2D1A |
| SKIV2L |
| SLC29A3 |
| SLC35C1 |
| SLC37A4 |
| SLC46A1 |
| SMARCAL1 |
| SP110 |
| SPINK5 |
| SPPL2A |
| STAT1 |
| STAT2 |
| STAT3 |
| STAT5B |
| STIM1 |
| STK4 |
| STX11 |
| STXBP2 |
| TAP1 |
| TAP2 |
| TAZ |
| TBK1 |
| TCF3 |
| TCN2 |
| TICAM1 |
| TLR3 |
| TMC6 |
| TMC8 |
| STING1 |
| TNFAIP3 |
| TNFRSF1A |
| TPP2 |
| TREX1 |
| TRNT1 |
| TTC37 |
| TTC7A |
| TYK2 |
| UNC13D |
| UNC93B1 |
| UNG |
| USB1 |
| VPS13B |
| VPS45 |
| WAS |
| WIPF1 |
| XIAP |
| ZAP70 |
| ZBTB24 |
