Otorhinolaryngology

Approximately 80% of prelingual deafness has a genetic origin and, to date, more than 6,000 alterations causing Non Syndromic Hypoacusis and more than 400 syndromes with hearing loss have been identified. Genetic studies make it possible to identify the cause of hearing loss and facilitate genetic counseling to the family, establishing the pattern of inheritance and indicating the probability of transmission.

All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.

DESCRIPTION

Hearing loss is a decrease in hearing sensitivity that can affect one or both ears and can occur in different types and degrees. Approximately 80% of prelingual deafness has a genetic origin and is considered syndromic or non-syndromic depending on the presence or absence of associated visible abnormalities of the outer ear or other related medical disorders. This targeted exome, which includes more than 240 genes associated or potentially associated with the development of hearing loss, makes it possible to identify the molecular cause of hearing impairment in these patients.
ABCC1, ABHD12, ACTB, ACTG1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, AP1S1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, BRAF, BSND, CABP2, CACNA1D, CCDC50, CDH23, CEACAM16, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL11A1, COL11A2, COLEC11, DCAF17, DDX11, DIABLO, DIAPH1, DMXL2, DNMT1, ECHS1, EDN3, EDNRB, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FTO, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOXA1, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, LRTOMT, MARVELD2, MASP1, MET, MIR96, MITF, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TH, MT-TK, MT- TL1, MT-TS1, MYH9, MYH14, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX26, PEX7, PHYH, PJVK, PLS1, POGZ, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPN11, PTPRQ, RAF1, RDX, RIPOR2, RMND1, SALL1, SERAC1, SERPINB6, SIX1, SLC17A8, SLC19A2, SLC26A4, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRPV4, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2. ADCY1, AP3D1, ATP2B2, ATP6V1B2, BDP1, CATSPER2, CCS, CD151, CD164, CDC14A, CLIC5, COL4A6, COL9A2, COL9A3, COQ6, CRYM, DCDC2, DIAPH3, DSPP, ELMOD3, ERAL1, EPS8, EXOSC2, FBLN1, FGFR1, FGFR2, FOXI1, GRXCR2, GSTP1, GTF2IRD1, HMX2, HMX3, HOMER2, KITLG, MAF, MAFB, MARS2, MCM2, MSRB3, MT-CO3, MT-TA, MT-TE, MT-TS2, NDUFA13, NFIX, NTRK3, PANX1, PMP22, PNPT1, POLD1, PSIP1, PTPRD, RAI1, ROR1, S1PR2, SEMA3E, SEZ6, SIX5, SLC22A4, SLC26A5, SLC4A11, SLC44A4, SLC9A1, TBL1XR1, TK2, TMEM132E, TMPRSS5, TNC, TP63, TUBB4B, TWIST1, WBP2, YWHAH

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Hypoacusis presents a great genetic heterogeneity, being known, to date, more than 6,000 alterations causing Non Syndromic Hypoacusis. We offer the study of different targeted exomes for this type of hearing loss.
ABCC1, ACTG1, ADCY1, AIFM1, ATP2B2, ATP6V1B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MPZL2, MSRB3, MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN
ABCC1, ACTG1, ATP6V1B2, CCDC50, CD164, CEACAM16, COCH, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EYA4, GJB2, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, MCM2, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, PDE1C, PLS1, POU4F3, PTPRQ, RIPOR2, SIX1, SLC17A8, SLC44A4, TBC1D24, TECTA, TMC1, TNC, TRRAP, WFS1
ADCY1, ATP2B2, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRXCR1, GRXCR2, HGF, ILDR1, KARS1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, PPIP5K2, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC22A4, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WHRN
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX
MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.

ABHD12, ACTB, ADGRV1, ALMS1, AMMECR1, ANKH, AP1S1, AP3D1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, CACNA1D, CD151, CDH23, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, DCAF17, DDX11, DNMT1, ECHS1, EDN3, EDNRB, ERAL1, ESPN, EXOSC2, EYA1, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, FTO, GATA3, HARS1, HARS2, HOXA1, HOXB1, KARS1, KCNQ1, KCNE1, KCNJ10, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, MAF, MAFB, MARS2, MASP1, MITF, MYO7A, NDP, NDUFA13, NF2, NLRP3, OPA1, PAX3, PCDH15, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PMP22, PHYH, POGZ, POLD1, PTPN11, RAI1, RMND1, SALL1, SERAC1, SIX5, SLC19A2, SLC26A4 ,SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SNAI2, SOX10, SPATA5, TIMM8A, TNC, TRPV4, , TUBB4B, TWIST1, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
FOXI1, KCNJ10, SLC26A4
COL4A3, COL4A4, COL4A5
HARS2, HSD17B4, LARS2

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • Isolated DNA (>30 ng/μl in >100 μl)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

DESCRIPTION

Hearing loss is a decrease in hearing sensitivity that can affect one or both ears and can occur in different types and degrees. Approximately 80% of prelingual deafness has a genetic origin and is considered syndromic or non-syndromic depending on the presence or absence of associated visible abnormalities of the outer ear or other related medical disorders. This targeted exome, which includes more than 240 genes associated or potentially associated with the development of hearing loss, makes it possible to identify the molecular cause of hearing impairment in these patients.
ABCC1, ABHD12, ACTB, ACTG1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, AP1S1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, BRAF, BSND, CABP2, CACNA1D, CCDC50, CDH23, CEACAM16, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL11A1, COL11A2, COLEC11, DCAF17, DDX11, DIABLO, DIAPH1, DMXL2, DNMT1, ECHS1, EDN3, EDNRB, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FTO, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOXA1, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, LRTOMT, MARVELD2, MASP1, MET, MIR96, MITF, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TH, MT-TK, MT- TL1, MT-TS1, MYH9, MYH14, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX26, PEX7, PHYH, PJVK, PLS1, POGZ, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPN11, PTPRQ, RAF1, RDX, RIPOR2, RMND1, SALL1, SERAC1, SERPINB6, SIX1, SLC17A8, SLC19A2, SLC26A4, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRPV4, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2. ADCY1, AP3D1, ATP2B2, ATP6V1B2, BDP1, CATSPER2, CCS, CD151, CD164, CDC14A, CLIC5, COL4A6, COL9A2, COL9A3, COQ6, CRYM, DCDC2, DIAPH3, DSPP, ELMOD3, ERAL1, EPS8, EXOSC2, FBLN1, FGFR1, FGFR2, FOXI1, GRXCR2, GSTP1, GTF2IRD1, HMX2, HMX3, HOMER2, KITLG, MAF, MAFB, MARS2, MCM2, MSRB3, MT-CO3, MT-TA, MT-TE, MT-TS2, NDUFA13, NFIX, NTRK3, PANX1, PMP22, PNPT1, POLD1, PSIP1, PTPRD, RAI1, ROR1, S1PR2, SEMA3E, SEZ6, SIX5, SLC22A4, SLC26A5, SLC4A11, SLC44A4, SLC9A1, TBL1XR1, TK2, TMEM132E, TMPRSS5, TNC, TP63, TUBB4B, TWIST1, WBP2, YWHAH

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Hypoacusis presents a great genetic heterogeneity, being known, to date, more than 6,000 alterations causing Non Syndromic Hypoacusis. We offer the study of different targeted exomes for this type of hearing loss.
ABCC1, ACTG1, ADCY1, AIFM1, ATP2B2, ATP6V1B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MPZL2, MSRB3, MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN
ABCC1, ACTG1, ATP6V1B2, CCDC50, CD164, CEACAM16, COCH, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EYA4, GJB2, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, MCM2, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, PDE1C, PLS1, POU4F3, PTPRQ, RIPOR2, SIX1, SLC17A8, SLC44A4, TBC1D24, TECTA, TMC1, TNC, TRRAP, WFS1
ADCY1, ATP2B2, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRXCR1, GRXCR2, HGF, ILDR1, KARS1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, PPIP5K2, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC22A4, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WHRN
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX
MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.

ABHD12, ACTB, ADGRV1, ALMS1, AMMECR1, ANKH, AP1S1, AP3D1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, CACNA1D, CD151, CDH23, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, DCAF17, DDX11, DNMT1, ECHS1, EDN3, EDNRB, ERAL1, ESPN, EXOSC2, EYA1, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, FTO, GATA3, HARS1, HARS2, HOXA1, HOXB1, KARS1, KCNQ1, KCNE1, KCNJ10, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, MAF, MAFB, MARS2, MASP1, MITF, MYO7A, NDP, NDUFA13, NF2, NLRP3, OPA1, PAX3, PCDH15, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PMP22, PHYH, POGZ, POLD1, PTPN11, RAI1, RMND1, SALL1, SERAC1, SIX5, SLC19A2, SLC26A4 ,SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SNAI2, SOX10, SPATA5, TIMM8A, TNC, TRPV4, , TUBB4B, TWIST1, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
FOXI1, KCNJ10, SLC26A4
COL4A3, COL4A4, COL4A5
HARS2, HSD17B4, LARS2

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

DESCRIPTION

Hearing loss is a decrease in hearing sensitivity that can affect one or both ears and can occur in different types and degrees. Approximately 80% of prelingual deafness has a genetic origin and is considered syndromic or non-syndromic depending on the presence or absence of associated visible abnormalities of the outer ear or other related medical disorders. This targeted exome, which includes more than 240 genes associated or potentially associated with the development of hearing loss, makes it possible to identify the molecular cause of hearing impairment in these patients.
ABCC1, ABHD12, ACTB, ACTG1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, AP1S1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, BRAF, BSND, CABP2, CACNA1D, CCDC50, CDH23, CEACAM16, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL11A1, COL11A2, COLEC11, DCAF17, DDX11, DIABLO, DIAPH1, DMXL2, DNMT1, ECHS1, EDN3, EDNRB, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FTO, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOXA1, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, LRTOMT, MARVELD2, MASP1, MET, MIR96, MITF, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TH, MT-TK, MT- TL1, MT-TS1, MYH9, MYH14, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX26, PEX7, PHYH, PJVK, PLS1, POGZ, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPN11, PTPRQ, RAF1, RDX, RIPOR2, RMND1, SALL1, SERAC1, SERPINB6, SIX1, SLC17A8, SLC19A2, SLC26A4, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRPV4, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2. ADCY1, AP3D1, ATP2B2, ATP6V1B2, BDP1, CATSPER2, CCS, CD151, CD164, CDC14A, CLIC5, COL4A6, COL9A2, COL9A3, COQ6, CRYM, DCDC2, DIAPH3, DSPP, ELMOD3, ERAL1, EPS8, EXOSC2, FBLN1, FGFR1, FGFR2, FOXI1, GRXCR2, GSTP1, GTF2IRD1, HMX2, HMX3, HOMER2, KITLG, MAF, MAFB, MARS2, MCM2, MSRB3, MT-CO3, MT-TA, MT-TE, MT-TS2, NDUFA13, NFIX, NTRK3, PANX1, PMP22, PNPT1, POLD1, PSIP1, PTPRD, RAI1, ROR1, S1PR2, SEMA3E, SEZ6, SIX5, SLC22A4, SLC26A5, SLC4A11, SLC44A4, SLC9A1, TBL1XR1, TK2, TMEM132E, TMPRSS5, TNC, TP63, TUBB4B, TWIST1, WBP2, YWHAH

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

Hypoacusis presents a great genetic heterogeneity, being known, to date, more than 6,000 alterations causing Non Syndromic Hypoacusis. We offer the study of different targeted exomes for this type of hearing loss.
ABCC1, ACTG1, ADCY1, AIFM1, ATP2B2, ATP6V1B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MPZL2, MSRB3, MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN
ABCC1, ACTG1, ATP6V1B2, CCDC50, CD164, CEACAM16, COCH, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EYA4, GJB2, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, MCM2, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, PDE1C, PLS1, POU4F3, PTPRQ, RIPOR2, SIX1, SLC17A8, SLC44A4, TBC1D24, TECTA, TMC1, TNC, TRRAP, WFS1
ADCY1, ATP2B2, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRXCR1, GRXCR2, HGF, ILDR1, KARS1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, PPIP5K2, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC22A4, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WHRN
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX
MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2

CHARACTERISTICS

Delivery time: 35-45 days 

DESCRIPTION

More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.

ABHD12, ACTB, ADGRV1, ALMS1, AMMECR1, ANKH, AP1S1, AP3D1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, CACNA1D, CD151, CDH23, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, DCAF17, DDX11, DNMT1, ECHS1, EDN3, EDNRB, ERAL1, ESPN, EXOSC2, EYA1, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, FTO, GATA3, HARS1, HARS2, HOXA1, HOXB1, KARS1, KCNQ1, KCNE1, KCNJ10, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, MAF, MAFB, MARS2, MASP1, MITF, MYO7A, NDP, NDUFA13, NF2, NLRP3, OPA1, PAX3, PCDH15, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PMP22, PHYH, POGZ, POLD1, PTPN11, RAI1, RMND1, SALL1, SERAC1, SIX5, SLC19A2, SLC26A4 ,SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SNAI2, SOX10, SPATA5, TIMM8A, TNC, TRPV4, , TUBB4B, TWIST1, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
FOXI1, KCNJ10, SLC26A4
COL4A3, COL4A4, COL4A5
HARS2, HSD17B4, LARS2

CHARACTERISTICS

Delivery time: 35-45 days 

Other services

DESCRIPTION

We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases. 

DESCRIPTION

We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.

DESCRIPTION

We use the MLPA technique (Multiplex Ligation-dependent Probe Amplification) for the identification of deletions/duplications or methylation alterations in a methylation alterations in a specific gene or region.

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Genome Lab

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