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Otorhinolaryngology
Sequencing panels
Congenital aural malformations:
Congenital nasal malformations:
Non-syndromic sensorineural hearing loss:
Syndromic sensorineural hearing loss:
Other services
Turnaround time (TAT): 2 weeks
Studies of carriers of previously described variants in the family using Sanger sequencing.
For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult in atencionalcliente@healthincode.com
Turnaround time (TAT): 35 days
Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).
Turnaround time (TAT): 35 days
Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on the MRC-Holland kits.

Pablo Gargallo, MD
Head of the area of Medical Genetics
Distrofias de retina y diagnóstico diferencial – 476 genes
ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ACOX1, ADAM9, ADAMTS9, ADAMTS18, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALG6, ALMS1, ALPK1, ANKS6, ANTXR1, APOB, APOE, AP3B1, AP3D1, ARHGAP31, ARHGEF18, ARL13B, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ARV1, ASRGL1, ATAD3A, ATF6, ATOH7, ATP1A3, ATXN2, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BTD, LRMDA, C12ORF65, C19ORF12, C1QTNF5, CFAP410, C2CD3, PCARE, CPLANE1, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CFI, CAPN5, CC2D2A, CCDC28B, CEP83, CCDC51, CCT2, CDH16, CDH23, CDH3, CDHR1, CDK10, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFH, CHM, CIB2, CISD2, CLCC1, CLDN19, CLEC3B, PPT1, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL6A6, COL11A1, COL11A2, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CPE, CRB1, CRB2, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CWC27, CX3CR1, CYP2U1, CYP4V2, DAG1, DCDC2, DCT, WHRN, DHDDS, DHX38, DLG1, DNAJC17, DNAJC19, DNAJC21, DNM1L, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EMC1, ENSA, ESPN, EXOSC2, EYS, FAM149B1, FAM161A, FBLN5, FBN3, FDXR, FDX2, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GDPD1, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, ADGRA3, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, LARGE2, HACE1, HADHA, HARS, HGSNAT, HK1, HKDC1, HMCN1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, IDH3A, IDH3B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ITM2B, JAG1, KIAA0556, KCNJ13, KCNV2, KIAA0586, KIAA0753, DOCK6, KIAA1549, KIF3B, KIF11, KIF7, KIF14, KITLG, KIZ, KLHL7, LAMA1, LAMA5, LAMB2, LCA5, LOXL3, LRAT, LRIT3, LRP2, LRP5, LYST, LZTFL1, MAK, MANBA, MAPKAPK3, MAPKBP1, MC1R, MCAT, MCOLN1, MECR, MERTK, MFN2, MFRP, MFSD8, MITF, MKKS, MKS1, MLPH, MMACHC, MTPAP, MTTP, MVK, MYO5A, MYO7A, NBAS, NDP, NDUFS1, NEK1, NEK2, NEK8, NEUROD1, NGLY1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OR2W3, OTX2, P3H2, PANK2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDXK, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PITPNM3, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POC5, POGZ, POLG, POLG2, POMGNT1, PPP2R3C, PRCD, PRDM13, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB27A, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHBDD2, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SEMA6B, SIX6, SLC24A1, SLC24A2, SLC24A5, SLC25A46, SLC38A8, SLC45A2, SLC4A3, SLC4A4, SLC4A7, SLC37A3, SLC39A12, SLC52A2, SLC6A6, PQLC2, SLC7A14, SMARCA4, SNAI2, SNRNP200, SNX10, SOX10, SOX3, SPATA7, SPG7, SPP2, SRD5A3, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TGFBR2, TIMM8A, TIMP3, FAM57B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VHL, VPS13B, WDPCP, WDR19, WDR34, WFS1, XPNPEP3, YARS, YME1L1, YPEL2, ZNF408, ZNF423, ZNF513, ZNHIT3, C9
Distrofias generalizadas de retina – 237 genes
ABCA4, ABHD12, ADAM9, ADGRV1, ADIPOR1, AGBL5, AHR, AIPL1, ALMS1, ARHGEF18, ARL2BP, ARL3, ARL6, ARSG, ATF6, ATP1A3, ATXN7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CFAP410, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CCDC28B, CCDC51, CDH23, CDHR1, CEP164, CEP250, CEP290, CEP78, CERKL, CFAP20, C8orf37, CIB2, CLCC1, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A3, COL4A4, COL4A5, COL6A6, CRB1, CRB2, CRX, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DRAM2, DTHD1, ELOVL4, EMC1, ENSA, ESPN, EXOSC2, EYS, FAM161A, FBN3, FLVCR1, FSCN2, GDF6, GDPD1, GNAT1, GNAT2, GNB3, ADGRA3, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HADHA, HARS, HGSNAT, HK1, HKDC1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF3B, KIZ, KLHL7, LCA5, LRAT, LRIT3, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MTTP, MYO7A, NEK2, NEUROD1, NGLY1, NMNAT1, NPHP1, NPHP4, NR2E3, NRL, NYX, OFD1, OPN1LW, OTX2, PANK2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PITPNM3, PLA2G5, POC1B, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RRM2B, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC37A3, SLC39A12, SLC4A4, SLC4A7, PQLC2, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, FAM57B, TMEM67, TOPORS, TRAF3IP1, TRIM32, TRNT1, TRPM1, TTC8, TTLL5, TUBB4B, TULP1, UNC119, USH1C, USH1G, USH2A, USP45, WDPCP, WDR19, WDR34, WHRN, YPEL2, ZNF408, ZNF513, CCT2
Retinosis pigmentaria – 107 genes
ABCA4, ABHD12, ADGRA3, ADIPOR1, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS2, BEST1, CC2D2A, CDHR1, CERKL, CFAP20, C8orf37, CLCC1, CLRN1, CNGA1, CNGB1, COL6A6, CRB1, CRB2, CWC27, DHDDS, DHX38, DNAJC17, DTHD1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, HGSNAT, HK1, HKDC1, IDH3A, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MFSD8, NEK2, NR2E3, NRL, OFD1, PANK2, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, REEP6, RGR, RHO, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, SAG, SAMD11, SCAPER, SEMA4A, SLC24A1, SLC37A3, SLC4A7, PQLC2, SLC7A14, SNRNP200, SPATA7, SPP2, TMEM67, TOPORS, TRNT1, TTC8, TULP1, USH2A, ZNF408, ZNF513
Retinosis pigmentaria atípica – 79 genes
ALMS1, NPHP4, ADGRV1, AIPL1, ARL6, ARSG, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CABP4, CCDC28B, CDH23, CEP164, CEP290, C8orf37, CIB2, CLRN1, CLUAP1, CRB1, CRX, DTHD1, ESPN, FBN3, GDF6, GUCY2D, HARS, IFT140, IFT172, IFT27, IFT74, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, LZTFL1, MKKS, MKS1, MTTP, MYO7A, NMNAT1, NPHP1, OTX2, PCDH15, PDZD7, PEX1, PHYH, PRPH2, RD3, RDH12, RDH5, RHO, RLBP1, RPE65, RPGRIP1, SCAPER, SCLT1, SDCCAG8, SPATA7, TRAF3IP1, TRIM32, TTC8, TUBB4B, TULP1, USH1C, USH1G, USH2A, USP45, WDPCP, WDR19, WHRN, RPGR, SAG
Usher, síndrome – 14 genes
ADGRV1, ARSG, CDH23, CIB2, CLRN1, ESPN, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN
Bardet-Biedl, Síndrome – 28 genes
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CDH23, CEP164, CEP290, C8orf37, FBN3, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, SCAPER, SCLT1, SDCCAG8, TRIM32, TTC8, WDPCP
Retinitis punctata albescens/Fundus albipunctatus – 4 genes
PRPH2, RDH5, RHO, RLBP1
Amaurosis congénita de Leber – 27 genes
ALMS1, AIPL1, CABP4, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45
Senior-Loken, síndrome – 8 genes
CEP290, IQCB1, NPHP1, NPHP4, SCLT1, SDCCAG8, TRAF3IP1, WDR19
Alstrom, síndrome – 1 gen
ALMS1
Retinosis pigmentaria sectorial – 6 genes
CDH23, RDH5, RHO, RPGR, SAG, USH1C
Distrofias de conos y bastones – 37 genes
ABCA4, ADAM9, ATP1A3, CA4, CACNA1F, CACNA2D4, CCDC51, CDHR1, CEP250, CEP78, C8orf37, CNNM4, CRX, DRAM2, GUCA1A, GUCY2D, IFT81, KCNV2, PCYT1A, PDE6C, PITPNM3, POC1B, PROM1, RAB28, RAX2, RIMS1, RLBP1, RPGR, RPGRIP1, RRM2B, SEMA4A, SRD5A3, FAM57B, TTLL5, UNC119, WDR34, PDE6H
Enfermedad de Stargardt – 3 genes
ABCA4, ELOVL4, PROM1
Distrofia cristalina de Bietti – 1 gen
CYP4V2
Retinopatía asociada a síndrome de Alport – 3 genes
COL4A5, COL4A3, COL4A4
Retina moteada familiar benigna – 1 gen
PLA2G5
Ceguera nocturna estacionaria congénita – 17 genes
CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, PRPH2, RDH5, RHO, RLBP1, SAG, SLC24A1, TRPM1
Acromatopsia – 9 genes
ATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW, PDE6C, PDE6H, OPN1SW
Distrofias maculares de retina – 19 genes
BEST1, CDH3, CLEC3B, CTNNA1, CYP2U1, EFEMP1, GUCY2D, IMPG1, IMPG2, MAPKAPK3, MFSD8, MMACHC, PROM1, PRPH2, RP1L1, SIX6, TIMP3, ELOVL4, ABCA4
Distrofia macular viteliforme – 19 genes
BEST1, IMPG1, IMPG2, PRPH2
Distrofia macular viteliforme – 4 genes
BEST1, IMPG1, IMPG2, PRPH2
Distrofia en patrón del epitelio pigmentario – 3 genes
CTNNA1, MAPKAPK3, PRPH2
Degeneración retiniana en panal de Doyne – 1 gen
EFEMP1
Degeneración retiniana en panal de Doyne por Sanger – 1 gene
EFEMP1
Distrofia coroidea areolar central – 2 genes
GUCY2D, PRPH2
Distrofia de Sorsby del fondo del ojo – 1 gen
TIMP3
Vitreorretinopatías hereditarias – 27 genes
ARHGAP31, BEST1, BMP4, CAPN5, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CTNNA1, CTNNB1, DLG1, FZD4, JAG1, KCNJ13, KIF11, LOXL3, LRP5, NDP, NR2E3, RCBTB1, RS1, TGFBR2, TSPAN12, VCAN, ZNF408
Stickler, síndrome – 8 genes
BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3
Vitreorretinopatía exudativa – 13 genes
ARHGAP31, CTNNA1, CTNNB1, DLG1, FZD4, JAG1, KIF11, LRP5, NDP, RCBTB1, TGFBR2, TSPAN12, ZNF408
Albinismo – 31 genes
AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1F, DCT, DTNBP1, EDN3, EDNRB, HPS3, HPS4, HPS5, HPS6, KITLG, LRMDA, LYST, MC1R, MITF, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1, GPR143, HPS1
Albinismo oculo-cutáneo – 8 genes
DCT, LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
Cataratas congénitas – 170 genes
ABHD12, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, ANAPC1, ARL2, ARPC4, ATAD3A, BCOR, BFSP1, BFSP2, CAV1, CDH2, CDK5RAP2, CDKL5, CHMP4B, CLPB, COG4, COL11A1, COL18A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP21A2, CYP27A1, CYP51A1, DHCR7, DNMBP, DOCK6, DPAGT1, DYNC1H1, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EYA1, FAM111A, FAM126A, FAR1, FBLN5, FBXL4, FKTN, FOXE3, FTL, FYCO1, GALE, GALK1, GALM, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GTF2E2, GTF2H5, HMX1, HSF4, HSPG2, IARS2, IFIH1, INPP5K, INTS1, JAM3, KCNA4, KCTD1, LEMD2, LIM2, LMBRD2, LMNA, LONP1, LRP4, LSS, MAF, MAFA, MED25, MED27, MIP, MPLKIP, MSMO1, MYH9, NACC1, NCOA6, NDP, NEU1, NHS, NUP188, OCLN, OCRL, OPA3, P3H2, PANK4, PAX6, PEX1, PEX11B, PEX5, PEX7, PGRMC1, PHGDH, PIGY, PIK3C2A, PISD, PITX3, PLOD3, PNPT1, POLG, POMGNT1, POMT1, POMT2, PSMC3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RIC1, RNF113A, RNPC3, RRAGA, SC5D, SEC31A, SIL1, SIPA1L3, SIX6, SLC16A12, SLC25A4, SLC33A1, SOX2, SRD5A3, STX3, SUCLG1, TARS, TBC1D20, TDRD7, TELO2, TFAP2A, TKFC, TMEM114, TMEM70, TOR1AIP1, TRAPPC11, TRPM3, UBE2A, UNC45B, VIM, VPS4A, VSX2, WFS1, XYLT2, ZNF526
Ectopia Lentis – 44 genes
AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, ATP6V0A2, B3GALT6, BAP1, BCOR, C12orf57, CBS, CHRDL1, COL11A1, COL18A1, COL2A1, COL5A1, COL8A2, CPAMD8, CYP1B1, ELP4, FBN1, FBN2, FOXC1, FOXE3, GRHL2, LOXL1, LTBP2, MOCS1, MOCS2, MTHFR, OVOL2, P3H2, PAK2, PAX2, PAX6, PCYT1A, PITX2, PITX3, PORCN, PXDN, SALL2, SUOX, VCAN, ZEB1
Anomalías de tamaño y forma del cristalino – 24 genes
ADAMTS10, ADAMTS17, ADAMTSL2, COL18A1, COL4A3, COL4A4, COL4A5, COL4A6, CPAMD8, CRYAA, FBN1, FOXE3, GJA8, HMX1, ITPR1, LAMB2, LMX1B, LTBP2, P3H2, PXDN, RAB3GAP1, TONSL, WDR37, WRAP73
Ectasias corneales – 18 genes
AIPL1, COL3A1, COL5A1, ERCC8, FAM50A, FBN2, GNB5, MIR184, PIEZO2, PLOD1, PRDM5, SLC2A10, SLC39A13, SMAD4, TMEM45A, TUBA3D, VSX1, ZNF469
Distrofias corneales – 32 genes
AGBL1, ALDH18A1, ATP6V0A2, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GRHL2, GSN, KRT12, KRT16, KRT17, KRT3, KRT6A, KRT6B, LCAT, MAB21L1, MBTPS2, MPDZ, OVOL2, PIKFYVE, PLCB3, PRDX3, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF143
Queratopatías metabólicas – 16 genes
ARSB, ARSK, ATP7B, CTNS, GALNS, GLA, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, LCAT, NAGLU, SGSH, TAT
MAC (microftalmia, anoftalmia, coloboma) – 369 genes
AAAS, ABCB6, ACTB, ACTG1, ADNP, AHI1, ALDH1A3, ALDH6A1, ALG2, ALG3, ALX1, ALX3, ARL13B, ARL3, ARMC9, ASPH, ASXL1, ATOH7, ATP6V1A, B3GALNT2, B3GLCT, B4GAT1, B9D1, B9D2, BCOR, BEST1, BMP4, BMP7, BRCA1, BRCA2, BRIP1, BRPF1, C12orf57, C16orf62, C1QTNF5, C2CD3, C5orf42, CAPN15, CASK, CC2D2A, CCDC22, CDK5RAP2, CDKL5, CDON, CENPF, CEP104, CEP120, CEP290, CEP41, CHD7, CHN1, CHUK, CLDN19, COL4A1, COX14, COX7B, CPLX1, CRB1, CREBBP, CRIM1, CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSNK2A1, CSPP1, CTBP1, CTNNB1, DACT1, DAG1, DDX11, DDX59, DEAF1, DHCR7, DHX38, DISP1, DLL1, DOCK6, DOCK7, DPYD, DYRK1A, EBP, EIF3F, ELP4, EOGT, EP300, EPCAM, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ESCO2, FADD, FAM111A, FAM149B1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT1, FBXO11, FBXW11, FGF3, FGF8, FGFR1, FGFR2, FGFRL1, FIBP, FKBP14, FKRP, FKTN, FLI1, FLNA, FNBP4, FOXC1, FOXE3, FOXH1, FOXL2, FRAS1, FREM1, FREM2, FZD4, FZD5, GAS1, GDF3, GDF6, GJA1, GJA8, GLI2, GMPPA, GMPPB, GRIP1, GSC, GTF2E2, GTF2H5, GZF1, HCCS, HDAC6, HESX1, HHAT, HMGB3, HMX1, HNRNPK, HRAS, HUWE1, HYLS1, IFT74, IGBP1, INPP5E, INTS1, INTU, IPO13, ISPD, KCTD1, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIF11, KIF14, KIF15, KIF17, KIF1BP, KIF26B, KIF7, KMT2D, KRAS, LARGE1, LCA5, LCP1, LETM1, LMBRD2, LRAT, LRP2, LRP5, MAB21L1, MAB21L2, MAD2L2, MAF, MAFB, MAGEL2, MAN2C1, MAPRE2, MBTPS2, MED12L, MED13L, MFRP, MICU1, MITF, MKS1, MMACHC, MMP14, MMP2, MPDZ, MPLKIP, MYRF, NAA10, NDP, NDUFB11, NELFA, NHS, NIPBL, NMNAT1, NODAL, NOTCH2, NOTCH3, NPHP1, NRAS, NSD2, NUAK2, NUP188, OCLN, OFD1, OLFM2, OSGEP, OTX2, PACS1, PALB2, PAX2, PAX3, PAX6, PCYT1A, PDE6D, PDGFRB, PIBF1, PIGG, PIGL, PIGN, PITX2, PITX3, PLK4, PNPLA6, PNPT1, POGZ, POLR1B, POLR1C, POLR1D, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PQBP1, PRIM1, PRMT7, PRPS1, PRR12, PRSS56, PTCH1, PTCH2, PTEN, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAD51, RAD51C, RARB, RAX, RBBP8, RBP4, RERE, RFWD3, RHOA, RIPK4, RNF113A, ROR1, RPE65, RPGRIP1L, RSPO2, RTTN, RXYLT1, SALL1, SALL2, SALL4, SATB2, SEMA3E, SF3B2, SHH, SIN3A, SIX1, SIX3, SIX6, SLC25A24, SLC36A2, SLC38A8, SLC6A19, SLC6A20, SLX4, SMCHD1, SMG9, SMO, SMOC1, SNX3, SOX2, SPATA7, SPECC1L, SPINT2, SPTBN1, SRD5A3, STRA6, SUFU, TARS, TBC1D20, TBC1D23, TBC1D32, TBL1XR1, TBR1, TBX22, TCOF1, TCTN1, TCTN2, TCTN3, TDGF1, TENM3, TFAP2A, TGFB2, TGIF1, TKFC, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TMEM98, TMX3, TOGARAM1, TRAPPC11, TRIM37, TRRAP, TTC26, TUBB, TUBGCP4, TXNDC15, UBE2T, UBE3B, VAX1, VPS13B, VSX2, WAC, WASHC5, WDR37, WNT3, WNT7B, XRCC2, YAP1, ZBTB20, ZEB2, ZIC2, ZMIZ1, ZNF423
Glaucoma primario y secundario – 335 genes
ABCA4, ACVR1, ADA2, ADAMTS10, ADAMTS17, ADAMTS3, ADAMTSL1, ADAMTSL4, ADAR, AGBL5, AGK, AHI1, AHR, ALDH1A3, ANGPT1, ANKLE2, ANKRD55, ANTXR1, ARHGEF18, ARL2BP, ARL3, ARL6, ARSB, ASB10, ATOH7, ATR, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GAT1, BBS1, BBS2, BCOR, BEST1, BRD4, BUB1, BUB1B, CANT1, CBS, CCBE1, CCDC22, CCDC28B, CD247, CDH11, CDHR1, CENPE, CENPJ, CEP152, CEP57, CERKL, C8orf37, CHRDL1, CHST14, CHST3, CISD2, CLN3, CLRN1, CNGA1, CNGB1, COL11A1, COL18A1, COL2A1, COL3A1, COL4A1, COL8A2, COX7B, CPAMD8, CRB1, CREBBP, ISPD, CRX, CRYAA, CRYBA2, CRYBB3, CSGALNACT1, CYP1B1, DAG1, DCN, DDX58, DHCR7, DHDDS, DHX38, DNAJC30, DSE, EBP, EFEMP1, ELN, EP300, ESCO2, EXOSC2, EYS, FAM161A, FAM50A, FAS, FAT4, FBN1, FGF10, FGFR2, FGFR3, FKRP, FKTN, FLNA, FOXC1, FOXE3, FREM2, FSCN2, FUT8, FYCO1, FZD4, GATA1, GJA1, GJA8, GJB3, GJB4, GLIS3, GMPPB, GNAQ, GP1BB, GRHL2, GSN, GUCA1B, GUCA1C, GZF1, HCCS, HDAC8, HGSNAT, HMX1, HRAS, IDH3A, IDH3B, IDUA, IFIH1, IFT140, IFT172, IL2RA, IL2RB, IMPDH1, IMPG1, IMPG2, KDSR, KIAA1549, KIF11, KIZ, KLHL7, LARGE1, LMBRD2, LMX1B, LOXL1, LRAT, LRP5, LSM11, LTBP2, MAB21L1, MAF, MAFA, MAG, MAK, MASP1, MERTK, MFRP, MTHFR, MYMK, MYOC, NAA10, NCAPG2, NCF1, NDP, NDUFB11, NEK2, NF1, NFIX, NHS, NIPBL, NLRP3, NOD2, NR2E3, NRL, NTF4, NUP85, OCRL, OFD1, OPA1, OPTN, OTX2, OVOL2, PAX6, PBX1, C2ORF71, PCNT, PDE6A, PDE6B, PDE6G, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PIK3C2A, PIK3R1, PITX2, PITX3, PLK4, PLOD1, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, PRSS56, PTCH1, PTCH2, PTEN, PUS1, PXDN, PYCR1, RAD21, RAX, RBBP8, RBP3, RDH12, RECQL4, REEP6, RGR, RHO, RHOA, RLBP1, RNASEH2A, RNASEH2B, RNASEH2C, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RRM2B, RS1, RXYLT1, SAG, SAMHD1, SBF2, SCAPER, SEMA4A, SH3PXD2B, SIX6, SLC25A4, SLC38A8, SLC4A11, SLC4A4, SLC7A14, SMC1A, SMC3, SNRNP200, SOX11, SOX2, SPATA7, STUB1, SUFU, TBC1D20, TBK1, TBX1, TEK, TENM3, TGFB1, TIMP3, TKFC, TMCO1, TMEM98, TOPORS, TRAIP, TREX1, TRIM44, TRIP13, TSR2, TTC8, TUB, TULP1, TWIST1, USH2A, VCAN, VSX1, WASHC5, WDR36, WFS1, WT1, XYLT1, YAP1, YARS2, ZEB1, ZMIZ1, ZNF408, ZNF469, ZNF513, ZSWIM6
Glaucoma primario congénito, juvenil de ángulo abierto y secundario a anomalías oculares no adquiridas – 55 genes
ADAMTS10, ADAMTS17, ADAMTSL1, ANGPT1, ANKLE2, ARSB, ASB10, ATOH7, B3GLCT, BEST1, CANT1, CHRDL1, COL18A1, COL4A1, CPAMD8, CREBBP, CYP1B1, DCN, DHCR7, FOXC1, FOXE3, GNAQ, HMX1, LMX1B, LOXL1, LTBP2, MAF, MTHFR, MYOC, NF1, NHS, NTF4, OCRL, OPA1, OPTN, PAX6, PITX2, PITX3, PRR12, PTCH1, PXDN, RPS19, SBF2, SH3PXD2B, SLC38A8, SLC4A11, SLC4A4, TBK1, TBX1, TEK, TENM3, TMCO1, VSX1, WDR36, WT1
Degeneración macular asociada a la edad – 18 genes
ABCA4, APOE, ARMS2, C2, C3, C9, CFB, CFH, CFHR1, CFHR3, CFI, CST3, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, RAX2
Miopía Magna – 107 genes
ADAMTS10, ADAMTSL4, AGRN, ARL6, ARR3, ASPH, ASXL1, ATP6V0A2, ATP6V1A, ATP6V1E1, B4GALT1, BAP1, BSG, CACNA1F, PRIMPOL, CNGB3, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COX7B, CPSF1, CRIPT, CRYAB, CTNND2, CTSH, CYP1B1, CYP4V2, DAG1, DOHH, DPH5, DZIP1, EFEMP1, EFL1, ELOVL4, ERBB3, FBN1, FGFR3, FLRT3, FZD5, GLRA2, GNAT1, GNB3, GPR179, GRM6, GUCY2D, GZF1, HCCS, HERC1, HS6ST2, IPO8, IRX5, KAT5, LAMB2, LOXL3, LRIT3, LRP2, LRPAP1, LTBP2, MAF, MYOC, NDP, NDUFAF7, NDUFB11, NFIX, NMNAT1, NYX, OPA1, OPN1LW, OTX2, P3H2, P4HA2, PAK2, PAX2, PAX6, PDE6B, PDE6H, POC1B, POLR3B, POMGNT1, PRDM5, RAB28, RHO, RIN2, RP2, RPGR, RPL10, SCO2, SLC24A1, SLC35E2B, SLC39A5, SLITRK6, SMS, TBC1D24, TGFBI, TNFRSF21, TRPM1, TTC8, TTLL5, VPS50, XYLT1, ZNF408, ZNF469, ZNF644
Miopía Magna no sindrómica – 44 genes
AGRN, ARL6, ARR3, BSG, CACNA1F, PRIMPOL, COL11A1, COL2A1, CPSF1, CTNND2, CTSH, DZIP1, FLRT3, FZD5, GLRA2, GNAT1, GNB3, GPR179, GRM6, GUCY2D, LOXL3, LRIT3, LRPAP1, NDP, NDUFAF7, NYX, OPA1, OPN1LW, OTX2, P3H2, P4HA2, PAX6, PDE6B, RHO, RPGR, SCO2, SLC24A1, SLC35E2B, SLC39A5, SLITRK6, TNFRSF21, TRPM1, XYLT1, ZNF644
Trastornos congénitos por denervación craneal – 54 genes
ACKR3, ARX, CCNQ, CDH2, CHN1, COL25A1, CSPP1, DCC, DMPK, DNM1L, ECEL1, FGFR1, FOXL2, GJA5, GJA8, HOXA1, HOXB1, KCNN2, KIAA0586, KIF21A, MAFB, MED13, MN1, MYMK, NEUROG1, NFIX, NSMF, OPA1, PABPN1, PHOX2A, PIEZO2, PIK3C2A, PLXND1, POLG, REV3L, ROBO3, RRM2B, SALL1, SALL4, SLC25A4, STAC3, TBX2, TK2, TMPO, TOGARAM1, TUBA1A, TUBB2B, TUBB3, TWNK, UBA2, WDR26, ZC4H2, ZFHX4, ZMIZ1
Nistagmo congénito – 86 genes
AARS2, ADAR, ATF6, AHR, AIPL1, ALMS1, ARHGEF2, KIDINS220, ATP6V1B2, C12orf57, CABP4, CACNA1F, CASK, CDC42, CEP290, CLUAP1, CNGA3, CNGB3, CRB1, CRX, DCT, DTHD1, EXOSC9, FRMD7, GDF6, GJC2, GNAT2, GPR143, GPR179, GRIK2, GUCY2D, HMX1, HPS3, HPS6, IFT140, IMPDH1, IQCB1, KCNJ13, KRT14, KRT5, LAMB2, LCA5, LRAT, LRMDA, LRP5, LYST, MC1R, NMNAT1, NPC1, NUP62, NYX, OCA2, OPA1, OPN1LW, OTX2, PAX6, PDE6C, PDE6H, PGAP1, PLP1, PRPH2, PRPS1, RD3, RDH12, RPE65, RPGRIP1, RTN4IP1, SLC24A5, SLC38A8, SLC45A2, SLC6A6, SNAP29, SOX10, SPATA7, STXBP1, TBC1D24, TMEM106B, TMEM163, TMEM63A, TUBB3, TUBB4B, TULP1, TYR, TYRP1, USP45, YARS
Atrofia óptica de Leber. Mutaciones genoma mitocondrial
Detección de mutaciones: m.11778G>A , m.11778G>A , m.11778G>A
MT-ND1, MT-ND6, MT-ND4
Genoma mitocondrial – 37 genes
Análisis de los 37 genes del ADNmt y sus variantes asociadas a enfermedad. Se incluye con este estudio la detección de mutaciones puntuales y grandes deleciones, así como la posibilidad de determinar el grado de heteroplasmia en la muestra remitida.
FENOTIPOS RELACIONADOS:
– Neuropatía óptica hereditaria de Leber (LHON)
– Neuropatía, ataxia, retinitis pigmentaria (NARP)
– Oftalmoplejía externa progresiva crónica (CPEO)
Steps to follow
How to order
1. Download & fill out
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2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
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4. Send the sample & the request
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5. Result: the report
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