- 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
EYA1, SIX1, SIX5
FOXI1, KCNJ10, SLC26A4
KCNQ1, KCNE1
COL4A3, COL4A4, COL4A5
CISD2, WFS1
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.
- Otorhinolaryngology
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
EYA1, SIX1, SIX5
FOXI1, KCNJ10, SLC26A4
KCNQ1, KCNE1
COL4A3, COL4A4, COL4A5
CISD2, WFS1
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.
- Otorhino
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
EYA1, SIX1, SIX5
FOXI1, KCNJ10, SLC26A4
KCNQ1, KCNE1
COL4A3, COL4A4, COL4A5
CISD2, WFS1
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.