Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EM analiza 250 genes asociados a enfermedades mitocondriales usando secuenciación de exoma completo mediante NGS y cubriendo además el ADN mitocondrial de forma específica.
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 |
| ABAT |
| ABCB7 |
| ACAD9 |
| ACO2 |
| AFG3L2 |
| AGK |
| AIFM1 |
| ANO10 |
| COA8 |
| APTX |
| ATAD3A |
| ATP5F1D |
| ATPAF2 |
| BCS1L |
| BOLA3 |
| BTD |
| C12orf65 |
| MICOS13 |
| C1QBP |
| CA5A |
| CARS2 |
| CHCHD10 |
| CLPB |
| CLPP |
| COA6 |
| COA7 |
| COQ2 |
| COQ4 |
| COQ6 |
| COQ7 |
| COQ8A |
| COQ8B |
| COQ9 |
| COX10 |
| COX14 |
| COX15 |
| COX20 |
| COX6A1 |
| COX6B1 |
| COX7B |
| CYC1 |
| DARS2 |
| DGUOK |
| DLAT |
| DLD |
| DMPK |
| DNA2 |
| DNAJC19 |
| DNM1L |
| DNM2 |
| EARS2 |
| ECHS1 |
| ELAC2 |
| ETFDH |
| ETHE1 |
| FARS2 |
| FASTKD2 |
| FBXL4 |
| FDX2 |
| FDXR |
| FH |
| FLAD1 |
| FOXRED1 |
| GARS1 |
| GDAP1 |
| GFER |
| GFM1 |
| GFM2 |
| GLRX5 |
| GTPBP3 |
| HARS2 |
| HCCS |
| HIBCH |
| HLCS |
| HSD17B10 |
| HSPD1 |
| HTRA2 |
| IARS2 |
| IBA57 |
| ISCA1 |
| ISCA2 |
| ISCU |
| KARS1 |
| LARS2 |
| LIAS |
| LIPT1 |
| LIPT2 |
| LONP1 |
| LRPPRC |
| LYRM7 |
| MARS2 |
| MDH2 |
| MECR |
| MFF |
| MFN2 |
| MGME1 |
| MICU1 |
| MIPEP |
| MPC1 |
| MPV17 |
| MRPL3 |
| MRPL44 |
| MRPS2 |
| MRPS22 |
| MRPS34 |
| MSTO1 |
| MTFMT |
| MTO1 |
| MTPAP |
| NADK2 |
| NARS2 |
| NAXE |
| NDUFA1 |
| NDUFA10 |
| NDUFA11 |
| NDUFA2 |
| NDUFA4 |
| NDUFA6 |
| NDUFA9 |
| NDUFAF1 |
| NDUFAF2 |
| NDUFAF3 |
| NDUFAF4 |
| NDUFAF5 |
| NDUFAF6 |
| NDUFAF8 |
| NDUFB11 |
| NDUFB3 |
| NDUFB8 |
| NDUFS1 |
| NDUFS2 |
| NDUFS3 |
| NDUFS4 |
| NDUFS6 |
| NDUFS7 |
| NDUFS8 |
| NDUFV1 |
| NDUFV2 |
| NFU1 |
| NUBPL |
| OPA1 |
| OPA3 |
| PARS2 |
| PC |
| PDHA1 |
| PDHB |
| PDHX |
| PDP1 |
| PDSS1 |
| PDSS2 |
| PET100 |
| PMPCA |
| PMPCB |
| PNPLA8 |
| PNPT1 |
| POLG |
| POLG2 |
| PPA2 |
| PUS1 |
| QRSL1 |
| RARS2 |
| RMND1 |
| RNASEH1 |
| RRM2B |
| RTN4IP1 |
| SACS |
| SARS2 |
| SCO1 |
| SCO2 |
| SDHA |
| SDHAF1 |
| SDHD |
| SERAC1 |
| SFXN4 |
| SLC19A2 |
| SLC19A3 |
| SLC25A1 |
| SLC25A12 |
| SLC25A19 |
| SLC25A26 |
| SLC25A3 |
| SLC25A32 |
| SLC25A38 |
| SLC25A4 |
| SLC25A42 |
| SLC25A46 |
| SPG7 |
| SUCLA2 |
| SUCLG1 |
| SURF1 |
| TACO1 |
| TAZ |
| TIMM50 |
| TIMM8A |
| TK2 |
| TMEM126B |
| TMEM70 |
| TOP3A |
| TPK1 |
| TRIT1 |
| TRMT10C |
| TRMT5 |
| TRMU |
| TRNT1 |
| TSFM |
| TTC19 |
| TUFM |
| TWNK |
| TYMP |
| UQCC2 |
| UQCRB |
| VARS2 |
| WARS2 |
| YARS2 |
