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Buscador de Patologías y Genes

Panel NGS

P00180

Patología

DISTROFIA DE RETINA GLOBAL

753

Genes

AAAS, ABCA1, ABCA3, ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ACOX1, ACTB, ACTG1, ACVR1, ACVR2B, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1, ADIPOR1, AGBL1, AGK, AGPS, AHI1, AHR, AIPL1, AIRE, AKAP9, ALDH18A1, ALDH3A2, ALG2, ALG6, ALMS1, ALX1, AMACR, AMT, ANKS6, ANTXR1, AP3B1, AP3D1, ARL13B, ARL3, ARL6, ARSB, ARX, ASB10, ASPA, ATF6, ATIC, ATM, ATOH7, ATP13A2, ATP1A3, ATXN7, B3GALNT2, B4GAT1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL6, BCOR, BCS1L, BEST1, BFSP1, BFSP2, BLOC1S6, BMP1, BMP4, BMP7, BRAF, BRIP1, BTD, BUB1B, C12orf57, C8orf37, CA2, CA4, CABP4, CACNA1A, CACNA1F, CACNA1H, CACNA2D4, CANT1, CASK, CAV1, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CD320, CD96, CDH23, CDH3, CDHR1, CDKN2A, CDON, CEP164, CEP290, CEP41, CERKL, CFAP57, CFH, CHD3, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST14, CHST6, CHSY1, CIB2, CISD2, CLCN7, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COX14, COX6B1, COX7B, CP, CPLANE1, CRB1, CREBBP, CRELD1, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSF2RA, CTC1, CTDP1, CTNNB1, CTNS, CTSA, CTSD, CYP1B1, CYP27A1, CYP4V2, DAG1, DBH, DCN, DDB2, DDX58, DHCR7, DHDDS, DHODH, DIAPH1, DISP1, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC5, DNAL1, DNM1L, DNM2, DOCK6, DPAGT1, DPM1, DTNBP1, DYNC2H1, EBP, EDN3, EDNRA, EDNRB, EFEMP1, EIF4G1, ELMOD2, ELOVL4, ELP4, EPHA2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, EVC, EVC2, EYA1, EYS, FAM126A, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FASTKD2, FBLN5, FBN2, FGF8, FGFR1, FKBP14, FKRP, FKTN, FLNB, FLVCR1, FOXC1, FOXC2, FOXE3, FOXF2, FOXH1, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FXN, FYCO1, FZD4, GALE, GALK1, GALNS, GALT, GAS1, GBA, GCNT2, GDF1, GDF3, GDF6, GIPC3, GJA3, GJA8, GJB2, GJB6, GJC3, GLB1, GLI2, GLIS2, GLIS3, GM2A, GNAT1, GNAT2, GNB3, GNPAT, GNPTG, GNS, GPC3, GPHN, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GSS, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GUSB, HADHA, HADHB, HARS, HCCS, HCN1, HDAC6, HESX1, HEXA, HEXB, HGSNAT, HK1, HLCS, HMCN1, HMX1, HOXB1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HYLS1, IDH3B, IDUA, IFIH1, IFT122, IFT140, IFT172, IFT43, IFT80, IFT88, IGBP1, IGFBP7, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, ISPD, ITM2B, ITPR1, JAG1, JAM3, KARS, KAT6B, KCNJ13, KCNV2, KCTD7, KDM6A, KERA, KIF11, KIF5A, KIF7, KLHL7, KMT2D, KRT12, KRT2, KRT3, LAMA1, LAMB1, LAMB2, LARGE1, LCA5, LCT, LHFPL5, LHX3, LHX4, LIM2, LMX1B, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRRC6, LTBP2, LTBP3, LYST, LZTFL1, MAF, MAK, MAN2B1, MBD5, MBTPS2, MC1R, MCEE, MCOLN1, MED25, MERTK, MFF, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMP1, MOCS1, MPDU1, MPLKIP, MRE11, MSMO1, MTTP, MUC5B, MUT, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NBAS, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEK1, NEK8, NEUROD1, NF1, NHS, NKX2-1, NKX2-5, NLRP1, NME8, NMNAT1, NOD2, NODAL, NOTCH2, NPC1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NSD1, NTF4, NXNL1, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1SW, OPTN, OSMR, OSTM1, OTX2, P3H2, PANK2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGK1, PHGDH, PHYH, PIGL, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLG, PLOD1, PLOD3, PLP1, PMM2, PNPLA6, POGZ, POLG, POMGNT1, POMGNT2, POMK, POMT1, PORCN, PPT1, PQBP1, PRCD, PRDM5, PRKACA, PRKCG, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PTF1A, PTPN11, PXDN, RAB18, RAB27A, RAB3GAP1, RAB3GAP2, RAD50, RAI1, RAX, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, RECQL4, RGR, RGS9, RGS9BP, RHO, RIMS1, RIPK4, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RSPH4A, RSPH9, RSPO1, RXYLT1, SACS, SAG, SALL4, SAMD9, SBF2, SC5D, SCARF2, SCLT1, SCN2A, SCN8A, SCO2, SDCCAG8, SDHAF1, SEC23A, SEMA3E, SEMA4A, SERPINH1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SH3PXD2B, SHH, SIL1, SIX3, SIX5, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC2A1, SLC33A1, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC4A7, SLC52A2, SLC52A3, SLITRK6, SLX4, SMCHD1, SMOC1, SMPD1, SNAI2, SNRNP200, SNX10, SNX3, SOD1, SOX10, SOX2, SOX3, SPATA7, SPINT2, SPTBN2, SRD5A3, SREBF2, ST3GAL5, STIM1, STRA6, STS, STT3B, SUCLA2, SUFU, SUOX, TACSTD2, TAT, TBCE, TBL1XR1, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TERT, TFAP2A, TGFB1, TGFBI, TGIF1, TIMM8A, TIMP3, TINF2, TLR3, TLR4, TMEM114, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMTC3, TNFSF11, TOPORS, TPP1, TREX1, TRIM32, TRIM37, TRPM1, TRPM2, TSPAN12, TTC21B, TTC8, TTPA, TTR, TUB, TUBA8, TUBGCP6, TULP1, TYR, TYRP1, UBIAD1, UBR1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP9X, VAX1, VCAN, VHL, VIM, VPS13B, VSX1, VSX2, WASF3, WDPCP, WDR19, WDR35, WDR36, WFS1, WHRN, WRN, XPA, XPC, XPNPEP3, ZEB1, ZEB2, ZIC2, ZIC3, ZNF423, ZNF469, ZNF513, ZNF592, ZNF644

Solicitud de turno

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