Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx TM analiza 651 genes asociados a trastornos metabólicos 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 |
| ATP8 |
| COX1 |
| COX2 |
| COX3 |
| CYTB |
| ND1 |
| ND2 |
| ND3 |
| ND4 |
| ND4L |
| ND5 |
| ND6 |
| RNR1 |
| tRNA-Ala |
| tRNA-Cys |
| tRNA-Asp |
| tRNA-Glu |
| tRNA-Phe |
| tRNA-Gly |
| tRNA-His |
| tRNA-Ile |
| tRNA-Lys |
| tRNA-Leu1 |
| tRNA-Leu2 |
| tRNA-Met |
| tRNA-Asn |
| tRNA-Pro |
| tRNA-Gln |
| tRNA-Arg |
| tRNA-Ser1 |
| tRNA-Ser2 |
| tRNA-Val |
| tRNA-Trp |
| tRNA-Tyr |
| AARS2 |
| AASS |
| ABAT |
| ABCA1 |
| ABCB11 |
| ABCB4 |
| ABCB7 |
| ABCD1 |
| ABCD4 |
| ABCG5 |
| ABCG8 |
| ABHD12 |
| ABHD5 |
| ACAD8 |
| ACAD9 |
| ACADM |
| ACADS |
| ACADSB |
| ACADVL |
| ACAT1 |
| ACBD5 |
| ACO2 |
| ACOX1 |
| ACSF3 |
| ACY1 |
| ADA |
| ADAR |
| ADSL |
| AFG3L2 |
| AGA |
| AGK |
| AGL |
| AGPS |
| AGXT |
| AHCY |
| AIFM1 |
| AKR1D1 |
| ALAD |
| ALAS2 |
| ALDH18A1 |
| ALDH3A2 |
| ALDH4A1 |
| ALDH5A1 |
| ALDH6A1 |
| ALDH7A1 |
| ALDOA |
| ALDOB |
| ALG1 |
| ALG11 |
| ALG12 |
| ALG14 |
| ALG3 |
| ALG6 |
| ALG8 |
| ALG9 |
| ALPL |
| AMACR |
| AMN |
| AMT |
| ANO10 |
| APOA1 |
| APOA5 |
| APOB |
| APOC2 |
| APOE |
| COA8 |
| APRT |
| APTX |
| ARG1 |
| ARSA |
| ARSB |
| ARSL |
| ASAH1 |
| ASL |
| ASPA |
| ASS1 |
| ATAD3A |
| ATIC |
| ATP13A2 |
| ATP6AP1 |
| ATP6V0A2 |
| ATP7A |
| ATP7B |
| ATP8B1 |
| ATPAF2 |
| AUH |
| B3GALNT2 |
| B3GALT6 |
| B3GAT3 |
| B3GLCT |
| B4GALT1 |
| B4GALT7 |
| BAAT |
| BCKDHA |
| BCKDHB |
| BCKDK |
| BCS1L |
| BOLA3 |
| BTD |
| C12orf65 |
| C19orf12 |
| CA5A |
| CAT |
| CBS |
| CCDC115 |
| CHCHD10 |
| CHKB |
| CHST14 |
| CHST3 |
| CHST6 |
| CHSY1 |
| CISD2 |
| CLDN16 |
| CLDN19 |
| CLN3 |
| CLN5 |
| CLN6 |
| CLN8 |
| CLPB |
| CLPP |
| CNNM2 |
| COG1 |
| COG4 |
| COG5 |
| COG6 |
| COG7 |
| COG8 |
| COQ2 |
| COQ4 |
| COQ6 |
| COQ7 |
| COQ8A |
| COQ8B |
| COQ9 |
| COX10 |
| COX14 |
| COX15 |
| COX20 |
| COX6A1 |
| COX6B1 |
| COX7B |
| CP |
| CPOX |
| CPS1 |
| CPT1A |
| CPT2 |
| CTH |
| CTNS |
| CTSA |
| CTSC |
| CTSD |
| CTSK |
| CUBN |
| CYC1 |
| CYP27A1 |
| CYP7B1 |
| D2HGDH |
| DARS1 |
| DARS2 |
| DBH |
| DBT |
| DCXR |
| DDC |
| DGUOK |
| DHCR24 |
| DHCR7 |
| DHFR |
| DHODH |
| DHTKD1 |
| DLAT |
| DLD |
| DNA2 |
| DNAJC12 |
| DNAJC19 |
| DNAJC5 |
| DNM1L |
| DNM2 |
| DOLK |
| DPAGT1 |
| DPM1 |
| DPM2 |
| DPM3 |
| DPYD |
| DPYS |
| DYM |
| EARS2 |
| EBP |
| ECHS1 |
| ELAC2 |
| ENO3 |
| EPG5 |
| EPM2A |
| ETFA |
| ETFB |
| ETFDH |
| ETHE1 |
| EXT1 |
| EXT2 |
| FA2H |
| FAH |
| FAR1 |
| FARS2 |
| FASTKD2 |
| FBP1 |
| FBXL4 |
| FDX2 |
| FECH |
| FGFR2 |
| FH |
| FKRP |
| FKTN |
| FMO3 |
| FOLR1 |
| FOXRED1 |
| FTCD |
| FUCA1 |
| FUT8 |
| FXN |
| G6PC |
| G6PC3 |
| GAA |
| GABRG2 |
| GALC |
| GALE |
| GALK1 |
| GALNS |
| GALNT3 |
| GALT |
| GAMT |
| GARS1 |
| GATM |
| GBA |
| GBE1 |
| GCDH |
| GCH1 |
| GCLC |
| GDAP1 |
| GFER |
| GFM1 |
| GFPT1 |
| CBLIF |
| GK |
| GLA |
| GLB1 |
| GLDC |
| GLRA1 |
| GLRX5 |
| GLUD1 |
| GLUL |
| GLYCTK |
| GM2A |
| GMPPB |
| GNE |
| GNMT |
| GNPAT |
| GNPTAB |
| GNPTG |
| GNS |
| GPD1 |
| GPHN |
| GRHPR |
| GSS |
| GTPBP3 |
| GUSB |
| GYG1 |
| GYS1 |
| GYS2 |
| HAAO |
| HADH |
| HADHA |
| HADHB |
| HAMP |
| HARS2 |
| HCCS |
| HCFC1 |
| HEXA |
| HEXB |
| HFE |
| HJV |
| HGD |
| HGSNAT |
| HIBCH |
| HLCS |
| HMBS |
| HMGCL |
| HMGCS2 |
| HOGA1 |
| HPD |
| HPRT1 |
| HPS1 |
| HS2ST1 |
| HSD17B10 |
| HSD17B4 |
| HSD3B7 |
| HSPD1 |
| HTRA2 |
| HYAL1 |
| IARS2 |
| IBA57 |
| IDH2 |
| IDS |
| IDUA |
| IER3IP1 |
| ISCA2 |
| ISCU |
| CRPPA |
| ITPA |
| IVD |
| KARS1 |
| KYNU |
| L2HGDH |
| LAMP2 |
| LARGE1 |
| LARS1 |
| LARS2 |
| LBR |
| LCAT |
| LCT |
| LDHA |
| LDLR |
| LDLRAP1 |
| LIAS |
| LIPA |
| LIPT1 |
| LMBRD1 |
| LONP1 |
| LPIN1 |
| LPL |
| LRPPRC |
| MAGT1 |
| MAN1B1 |
| MAN2B1 |
| MANBA |
| MAOA |
| MARS2 |
| MAT1A |
| MCCC1 |
| MCCC2 |
| MCEE |
| MCOLN1 |
| MFF |
| MFN2 |
| MFSD8 |
| MGAT2 |
| MGME1 |
| MIF |
| MLYCD |
| MMAA |
| MMAB |
| MMACHC |
| MMADHC |
| MOCS1 |
| MOCS2 |
| MOGS |
| MPDU1 |
| MPI |
| MPV17 |
| MRPL3 |
| MRPS22 |
| MSMO1 |
| MT3 |
| MTFMT |
| MTHFR |
| MTO1 |
| MTPAP |
| MTR |
| MTRR |
| MTTP |
| MMUT |
| MVK |
| NAGA |
| NAGLU |
| NAGS |
| NARS2 |
| NDUFA1 |
| NDUFA10 |
| NDUFA11 |
| NDUFA2 |
| NDUFAF1 |
| NDUFAF2 |
| NDUFAF3 |
| NDUFAF4 |
| NDUFAF5 |
| NDUFAF6 |
| NDUFB11 |
| NDUFB3 |
| NDUFS1 |
| NDUFS2 |
| NDUFS3 |
| NDUFS4 |
| NDUFS6 |
| NDUFS7 |
| NDUFS8 |
| NDUFV1 |
| NDUFV2 |
| NEU1 |
| NFU1 |
| NGLY1 |
| NHLRC1 |
| NNT |
| NPC1 |
| NPC2 |
| NSDHL |
| NT5C3A |
| NUBPL |
| OAT |
| OCRL |
| OPA1 |
| OPA3 |
| OTC |
| OXCT1 |
| PAH |
| PANK2 |
| PC |
| PCBD1 |
| PCCA |
| PCCB |
| PCK1 |
| PCSK9 |
| PDHA1 |
| PDHB |
| PDHX |
| PDP1 |
| PDSS1 |
| PDSS2 |
| PEPD |
| PET100 |
| PEX1 |
| PEX10 |
| PEX11B |
| PEX12 |
| PEX13 |
| PEX14 |
| PEX16 |
| PEX19 |
| PEX2 |
| PEX26 |
| PEX3 |
| PEX5 |
| PEX6 |
| PEX7 |
| PFKM |
| PGAM2 |
| PGAP2 |
| PGAP3 |
| PGK1 |
| PGM1 |
| PGM3 |
| PHGDH |
| PHKA1 |
| PHKA2 |
| PHKB |
| PHKG2 |
| PHYH |
| PIGA |
| PIGL |
| PIGN |
| PIGO |
| PIGT |
| PIGV |
| PINK1 |
| PLA2G6 |
| PMM2 |
| PMPCA |
| PNP |
| PNPO |
| PNPT1 |
| POLG |
| POLG2 |
| POMGNT1 |
| POMGNT2 |
| POMT1 |
| POMT2 |
| POR |
| PPA2 |
| PPOX |
| PPT1 |
| PRKAG2 |
| PRODH |
| PRPS1 |
| PSAP |
| PSAT1 |
| PTS |
| PUS1 |
| PYCR1 |
| PYGL |
| PYGM |
| QDPR |
| RARS2 |
| RBCK1 |
| RBP4 |
| RFT1 |
| RMND1 |
| RNASEH1 |
| RPIA |
| RPL10 |
| RRM2B |
| SACS |
| SAMHD1 |
| SAR1B |
| SARS2 |
| SC5D |
| SCO1 |
| SCO2 |
| SCP2 |
| SDHA |
| SDHAF1 |
| SDHB |
| SDHD |
| SEC23B |
| SERAC1 |
| SETX |
| SGSH |
| SI |
| SKIV2L |
| SLC12A3 |
| SLC16A1 |
| SLC17A5 |
| SLC18A2 |
| SLC19A2 |
| SLC19A3 |
| SLC22A5 |
| SLC25A1 |
| SLC25A12 |
| SLC25A13 |
| SLC25A15 |
| SLC25A19 |
| SLC25A20 |
| SLC25A22 |
| SLC25A26 |
| SLC25A3 |
| SLC25A38 |
| SLC25A4 |
| SLC25A46 |
| SLC2A1 |
| SLC2A2 |
| SLC30A10 |
| SLC35A1 |
| SLC35A2 |
| SLC35C1 |
| SLC35D1 |
| SLC37A4 |
| SLC39A14 |
| SLC39A4 |
| SLC39A8 |
| SLC3A1 |
| SLC40A1 |
| SLC46A1 |
| SLC52A2 |
| SLC52A3 |
| SLC5A1 |
| SLC6A19 |
| SLC6A20 |
| SLC6A3 |
| SLC6A8 |
| SLC7A7 |
| SLC7A9 |
| SMPD1 |
| SPG7 |
| SPR |
| SPTLC1 |
| SPTLC2 |
| SRD5A3 |
| SSR4 |
| ST3GAL3 |
| ST3GAL5 |
| STS |
| SUCLA2 |
| SUCLG1 |
| SUMF1 |
| SUOX |
| SURF1 |
| TACO1 |
| TALDO1 |
| TANGO2 |
| TAT |
| TAZ |
| TCN2 |
| TFR2 |
| TIMM8A |
| TK2 |
| TMEM165 |
| RXYLT1 |
| TMEM70 |
| TPK1 |
| TPP1 |
| TRAP1 |
| TREX1 |
| TRIM37 |
| TRMU |
| TRNT1 |
| TRPM6 |
| TSFM |
| TTC19 |
| TTC37 |
| TTPA |
| TUFM |
| TUSC3 |
| TWNK |
| TYMP |
| UGT1A1 |
| UMOD |
| UMPS |
| UQCRB |
| UROD |
| UROS |
| VARS2 |
| VIPAS39 |
| VKORC1 |
| VPS33B |
| WDR45 |
| WFS1 |
| XDH |
| XYLT1 |
| XYLT2 |
| YARS2 |
