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.
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DG Otolaryngology I 329 genes
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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.
Targeted exome sequencing that includes the analysis of more than 320 genes associated or potentially associated with the development of syndromic and non-syndromic hearing loss, enabling the identification of the molecular cause of patients’ hearing impairment.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Non-syndromic hearing loss I 4 studies
Hearing loss exhibits significant genetic heterogeneity, with more than 6,000 genetic variants known to date that cause non-syndromic hearing loss. We offer targeted exome sequencing for this type of hearing loss.
Non-Syndromic Hearing Loss (138 genes)
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.
Autosomal dominant hearing loss (62 genes)
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.
Autosomal recessive hearing loss (87 genes)
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.
X-linked hearing loss (6 genes)
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Mitochondrial hearing loss I: 1 study
We offer a targeted test to detect mitochondrial DNA variants associated with hereditary hearing loss, enabling an accurate diagnosis of these conditions. This analysis allows for the identification of variants such as those described in the MT-RNR1 gene, which are linked to sensorineural hearing loss and aminoglycoside sensitivity, among others.
Mitochondrial Hearing Loss (9 genes)
MTCO1, MTND1, MTRNR1, MTTH, MTTI, MTTK, MTTL1, MTTS1, MTTS2.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Syndromic hearing loss I: 1 study
More than 400 syndromes associated with hearing loss are known, making their genetic study complex. We offer an exome test specifically designed to study the most common syndromes associated with sensorineural hearing loss, such as Waardenburg syndrome, branchio-oto-renal syndrome, Usher syndrome, Pendred syndrome, and Jervell and Lange-Nielsen syndrome, among others.
Syndromic Hearing Loss (225 genes)
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.
Information
-
Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days