Logo-Dreamgenics
Logo-Dreamgenics

Otorhinolaryngology

Approximately 80% of prelingual deafness has a genetic origin and, to date, more than 6,000 alterations have been identified that cause Non-Syndromic Hearing Loss and more than 400 syndromes that cause hearing loss.
Clinical areas
DG Otorhinolaryngology
Non-syndromic hearing loss
Hipoacusia de origen mitocondrial
Syndromic hearing loss
Documentation
Application form

DG Otorrino I 329 genes

ABCC1, ABHD12, ACSL4, ACTB, ACTG1, ADCY1, ADGRV1, AFG2A, AFG2B, AIFM1, AK2, ALMS1, AMMECR1, ANKH, AP1B1, AP1S1, AP3D1, ARSG, ATOH1, ATP11A, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH11, CDH23, CDK5RAP2, CEACAM16, CENPP, CEP250, CEP78, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, CRLS1, CRYM, DAP3, DCAF17, DCDC2, DDX11, DHX16, DIABLO, DIAPH1, DIAPH3, DLX5, DMP1, DMXL2, DNAJC3, DNMT1, DSPP, ECHS1, EDN3, EDNRB, ELMOD3, EPHA10, EPS8, EPS8L2, ERAL1, ERCC3, ESPN, ESRP1, ESRRB, EXOSC2, EYA1, EYA4, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, GAB1, GAS2, GATA2, GATA3, GDF6, GFER, GGPS1, GIPC3, GJB1, GJB2, GJB3, GJB6, GLA, GLIS3, GPC4, GPR156, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HOXA1, HOXA2, HSD17B4, HUWE1, IARS2, IGF1, IKZF2, ILDR1, JAG1, KARS1, KCNE1, KCNE5, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KIT, KITLG, KLC4, KMT2D, LARS2, LHFPL5, LHX3, LMX1A, LOXHD1, LRP2, LRTOMT, MAF, MAFB, MAN2B1, MAP1B, MAP3K7, MARS2, MARVELD2, MASP1, MCM2, MET, MIA3, MINAR2, MITF, MPZ, MPZL2, MRPL49, MRPS2, MRPS7, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NDUFA13, NF2, NLRP3, NMNAT1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PDE1C, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PI4KB, PJVK, PKHD1L1, PLOD3, PLS1, PMP22, PNPT1, POGZ, POLD1, POU3F4, POU4F3, PPIP5K2, PRORP, PRPS1, PSMC1, PSMC3, PTPN11, PTPRQ, RAI1, RDX, REST, RFC4, RFT1, RIPOR2, RMND1, RNF220, ROR1, RPGR, RRM2B, S1PR2, SALL1, SALL4, SARS1, SCD5, SDHD, SERAC1, SERPINB6, SGPL1, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPNS2, SPTBN4, SRP72, STRC, STX4, SUCLA2, SYNE4, TBC1D24, TCOF1, TECTA, THOC1, THRB, TIMM8A, TMC1, TMEM132E, TMEM43, TMIE, TMPRSS3, TMTC4, TNC, TPRN, TRIOBP, TRPV4, TRRAP, TSPEAR, TTR, TUBB4B, TWIST1, TWNK, TXNL4A, TYR, UBR1, UNC45A, USH1C, USH1G, USH2A, USP48, USP53, VDR, VPS13B, VPS33B, WBP2, WFS1, WHRN, XYLT2, YAP1, YARS1, ZSCAN10.
Exoma dirigido que incluye el análisis de más de 320 genes asociados o potencialmente asociados al desarrollo de hipoacusia sindrómica y no sindrómica que permite identificar la causa molecular de la discapacidad auditiva de los pacientes.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hipoacusia no sindrómica I 4 estudios

La hipoacusia presenta una gran heterogeneidad genética, conociéndose, hasta la fecha, más de 6.000 alteraciones causantes de hipoacusia no sindrómica. Ofrecemos el estudio de diferentes exomas dirigidos para este tipo de hipoacusia.
ABCC1, ACTG1, ADCY1, AFG2B, AIFM1, ATOH1, ATP11A, ATP2B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CENPP, CIB2, CLDN14, CLDN9, CLIC5, CLRN2, COCH, COL11A1, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPHA10, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, EYA4, FOXI1, GAB1, GAS2, GIPC3, GJB2, GJB3, GJB6, GPR156, GPRASP2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNJ10, KCNQ4, KITLG, LHFPL5, LMX1A, LOXHD1, LRTOMT, MAP1B, MARVELD2, MCM2, MET, MINAR2, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PDZD7, PI4KB, PJVK, PKHD1L1, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, ROR1, S1PR2, SCD5, SERPINB6, SIX1, SLC12A2, SLC17A8, SLC26A4, SLC26A5, SLC44A4, SLITRK6, SMPX, SPNS2, STRC, STX4, SYNE4, TBC1D24, TECTA, THOC1, TMC1, TMEM132E, TMIE, TMPRSS3, TMTC4, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, USH1C, USP48, WBP2, WFS1, WHRN.
ABCC1, ACTG1, ATOH1, ATP11A, ATP2B2, CCDC50, CD164, CEACAM16, CENPP, COCH, COL11A1, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPHA10, ESPN, EYA4, GJB2, GJB3, GJB6, GREB1L, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, LMX1A, MAP1B, MCM2, MYH14, MYH9, MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, P2RX2, PDE1C, PI4KB, PLS1, POU4F3, PTPRQ, REST, RIPOR2, SCD5, SIX1, SLC12A2, SLC17A8, SLC44A4, TBC1D24, TECTA, THOC1, TMC1, TNC, TRRAP, USP48, WFS1.
ADCY1, AFG2B, ATP2B2, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLDN9, CLIC5, CLRN2, COCH, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, FOXI1, GAB1, GAS2, GIPC3, GJB2, GJB3, GJB6, GPR156, GRAP, GRXCR1, GRXCR2, HGF, ILDR1, KARS1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MINAR2, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PDZD7, PJVK, PKHD1L1, PNPT1, PPIP5K2, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, SPNS2, STRC, STX4, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TMTC4, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WHRN.
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hipoacusia de origen mitocondrial I 1 estudio

Ofrecemos un estudio dirigido para la detección de variantes en el ADN mitocondrial asociadas a hipoacusia de origen hereditario, permitiendo un diagnóstico preciso de estas patologías. Este análisis permite la identificación de variantes como las descritas en el gen MT-RNR1 vinculadas a pérdida auditiva neurosensorial y sensibilidad a aminoglucósidos, entre otras.

MTCO1, MTND1, MTRNR1, MTTH, MTTI, MTTK, MTTL1, MTTS1, MTTS2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hipoacusia sindrómica I 1 estudio

Se conocen más de 400 síndromes que cursan con pérdida auditiva, haciendo complejo su estudio genético. Ofrecemos un exoma dirigido al estudio de los síndromes más frecuentes asociados a sordera neurosensorial como son el síndrome de Waardenburg, síndrome branquio-oto-renal, síndrome de Usher, síndrome de Pendred o síndrome de Jervell y Lange-Nielsen, entre otros.
ABHD12, ACSL4, ACTB, ACTG1, ADGRV1, AFG2A, AFG2B, AIFM1, AK2, ALMS1, AMMECR1, ANKH, AP1B1, AP1S1, AP3D1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BSND, BTD, CACNA1D, CD151, CDH11, CDH23, CDK5RAP2, CEP250, CEP78, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, CRLS1, DAP3, DCAF17, DDX11, DIAPH1, DIAPH3, DLX5, DMP1, DNAJC3, DNMT1, DSPP, ECHS1, EDN3, EDNRB, ERAL1, ERCC3, ESPN, EXOSC2, EYA1, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, GATA2, GATA3, GDF6, GFER, GGPS1, GJB1, GJB2, GJB3, GJB6, GLA, GLIS3, GPC4, GPSM2, HARS1, HARS2, HOXA1, HOXA2, HSD17B4, HUWE1, IARS2, IGF1, IKZF2, JAG1, KARS1, KCNE1, KCNE5, KCNJ10, KCNJ16, KCNQ1, KIT, KITLG, KLC4, KMT2D, LARS2, LHX3, LRP2, MAF, MAFB, MAN2B1, MAP3K7, MARS2, MASP1, MIA3, MITF, MPZ, MRPL49, MRPS2, MRPS7, MYH14, MYH9, MYO7A, NDP, NDUFA13, NF2, NLRP3, NMNAT1, OPA1, OTOF, PAX1, PAX2, PAX3, PBX1, PCDH15, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLOD3, PMP22, PNPT1, POGZ, POLD1, PRORP, PRPS1, PSMC1, PSMC3, PTPN11, RAI1, RFC4, RFT1, RMND1, RNF220, RPGR, RRM2B, SALL1, SALL4, SARS1, SDHD, SERAC1, SGPL1, SIX1, SIX5, SLC12A2, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SMAD4, SNAI2, SOX10, SOX2, SPTBN4, SRP72, SUCLA2, TBC1D24, TCOF1, THRB, TIMM8A, TMEM43, TRPV4, TTR, TUBB4B, TWIST1, TWNK, TXNL4A, TYR, UBR1, UNC45A, USH1C, USH1G, USH2A, USP53, VDR, VPS13B, VPS33B, WFS1, WHRN, XYLT2, YAP1, YARS1, ZSCAN10.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days