
Conocer tu predisposición genética a padecer enfermedades comunes, crónicas y que pueden ser tratadas con fármacos, puede ayudarte a prevenirlas.
Malformaciones congénitas del oído:
Malformaciones congénitas de la nariz:
Hipoacusia no sindrómica:
Hipoacusia sindrómica:
Tiempo de respuesta: 2 semanas
Estudios de portadores de variantes previamente descritas en la familia mediante secuenciación Sanger.
Para variantes estructurales (reordenamiento, variación copy-number [inserciones, deleciones y duplicaciones], inversiones, translocaciones, etc. consulta en atencionalcliente@healthincode.com
Tiempo de respuesta: 35 días
Servicio de secuenciación e interpretación de genes individuales. En función de su tamaño y de las regiones de interés, podemos ofrecer un abordaje basado en secuenciación Sanger o en NGS (enriquecimiento por amplicones o mediante sondas de hibridación). La aproximación basada en NGS permite la detección de variación en el número de copias (CNV).
Tiempo de respuesta: 35 días
Técnica semicuantitativa y ampliamente contrastada en los laboratorios de genética molecular que permite el diagnóstico de patologías debidas a variantes de número de copia, y en algunos casos, a alteraciones de metilación. Existen multitud de kits comerciales para el estudio de genes individuales, paneles de genes relacionados en patologías determinadas o regiones cromosómicas extensas involucradas en síndromes de microdeleción/microduplicación. HIC ofrece servicios MLPA basados en los kits de MRC-Holland.
1) Descargue y cumplimente
Detalle la información, lo más posible, en ambos documentos
2) Obtención de la muestra
Consulte los tipos de muestra en el Manual de Requisitos
3) Empaquete la muestra
Compruebe que el recipiente de la muestra sea estanco para evitar pérdidas
4) Envíe la muestra y la solicitud
Procure programarlo de lunes a viernes (08:00 a 17:00)
5) Resultado: el informe
Recibirá sus resultados vía email y/o portal de clientes
"*" señala los campos obligatorios
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
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
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
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
ADGRV1, ARSG, CDH23, CIB2, CLRN1, ESPN, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN
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
PRPH2, RDH5, RHO, RLBP1
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
CEP290, IQCB1, NPHP1, NPHP4, SCLT1, SDCCAG8, TRAF3IP1, WDR19
ALMS1
CDH23, RDH5, RHO, RPGR, SAG, USH1C
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
ABCA4, ELOVL4, PROM1
CYP4V2
COL4A5, COL4A3, COL4A4
PLA2G5
CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, PRPH2, RDH5, RHO, RLBP1, SAG, SLC24A1, TRPM1
ATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW, PDE6C, PDE6H, OPN1SW
BEST1, CDH3, CLEC3B, CTNNA1, CYP2U1, EFEMP1, GUCY2D, IMPG1, IMPG2, MAPKAPK3, MFSD8, MMACHC, PROM1, PRPH2, RP1L1, SIX6, TIMP3, ELOVL4, ABCA4
BEST1, IMPG1, IMPG2, PRPH2
BEST1, IMPG1, IMPG2, PRPH2
CTNNA1, MAPKAPK3, PRPH2
EFEMP1
EFEMP1
GUCY2D, PRPH2
TIMP3
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
BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3
ARHGAP31, CTNNA1, CTNNB1, DLG1, FZD4, JAG1, KIF11, LRP5, NDP, RCBTB1, TGFBR2, TSPAN12, ZNF408
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
DCT, LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
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
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
ADAMTS10, ADAMTS17, ADAMTSL2, COL18A1, COL4A3, COL4A4, COL4A5, COL4A6, CPAMD8, CRYAA, FBN1, FOXE3, GJA8, HMX1, ITPR1, LAMB2, LMX1B, LTBP2, P3H2, PXDN, RAB3GAP1, TONSL, WDR37, WRAP73
AIPL1, COL3A1, COL5A1, ERCC8, FAM50A, FBN2, GNB5, MIR184, PIEZO2, PLOD1, PRDM5, SLC2A10, SLC39A13, SMAD4, TMEM45A, TUBA3D, VSX1, ZNF469
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
ARSB, ARSK, ATP7B, CTNS, GALNS, GLA, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, LCAT, NAGLU, SGSH, TAT
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
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
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
ABCA4, APOE, ARMS2, C2, C3, C9, CFB, CFH, CFHR1, CFHR3, CFI, CST3, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, RAX2
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
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
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
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
Detección de mutaciones: m.11778G>A , m.11778G>A , m.11778G>A
MT-ND1, MT-ND6, MT-ND4
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)