Клинический экзом. Панель “Наследственные заболевания глаз”

Секвенирование со средней кратностью покрытия от 70х без верификации по Сэнгеру. Исследуемые гены: ABCA4, ABCB6, ABCC6, ABHD12, ACO2, ACTA1, ACVR1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1, AGBL1, AGK, AHI1, AIPL1, ALDH1A3, ALDH3A2, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALMS1, AP3B1, APOE, ARL13B, ARL2BP, ARL6, ARMS2, ASB10, ATF6, ATOH7, ATP1A3, ATXN7, AUH, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C10orf11, C10orf2, C12orf65, C1QTNF5, C2, C2orf71, C3, C5orf42, C8orf37, C9, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CEP83, CERKL, CFB, CFH, CFHR1, CFHR3, CFI, CHD7, CHM, CHMP4B, CHRDL1, CHST6, CIB2, CISD2, CLN3, CLN5, CLN6, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL25A1, COL2A1, COL4A1, COL4A3, COL4A5, COL8A2, COL9A1, COL9A2, COQ2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNS, CTSD, CX3CR1, CYP1B1, CYP4V2, DCN, DFNB31, DHDDS, DMD, DNA2, DPAGT1, DPM1, DRAM2, DTNBP1, EFEMP1, ELOVL4, ELP4, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, EYA1, EYS, FAM161A, FBLN5, FBN1, FBN2, FGFR2, FLVCR1, FOXC1, FOXE3, FOXL2, FREM1, FRMD7, FSCN2, FTL, FYCO1, FZD4, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GJB2, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HESX1, HGSNAT, HK1, HLA-DRB1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA1, IDH3B, IFT140, IFT172, IFT27, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KERA, KIAA0586, KIF11, KIF21A, KIF7, KIZ, KLHL7, KRIT1, KRT12, KRT3, LAMA1, LAMB2, LAMP2, LCA5, LIM2, LMX1B, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MCOLN1, MERTK, MFN2, MFRP, MFSD8, MGAT2, MIP, MIR184, MITF, MKKS, MKS1, MMP19, MPDU1, MPI, MVK, MYO6, MYO7A, MYOC, NAA10, NDP, NDUFS1, NEK2, NHS, NLRP1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, P3H2, PABPN1, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIGL, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PLOD1, PMM2, PNPLA6, POC1B, POLG, POLG2, POMT1, PPT1, PRCD, PRDM5, PRIMPOL, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRSS56, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RB1, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, RFT1, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNU4ATAC, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, SAG, SALL2, SBF2, SCN1A, SCO2, SDCCAG8, SEMA3E, SEMA4A, SEPN1, SH3PXD2B, SHH, SIL1, SIX6, SLC16A12, SLC19A2, SLC24A1, SLC24A5, SLC25A4, SLC25A46, SLC35A2, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC7A14, SLITRK6, SMOC1, SNRNP200, SOX10, SOX2, SOX3, SPATA7, SPG11, SPG7, SRD5A3, STRA6, STT3B, SYNE2, TACSTD2, TBC1D20, TCF4, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TENM3, TGFB1, TGFBI, TIMM8A, TIMP3, TLR4, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TMEM98, TOPORS, TPM3, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBGCP4, TUBGCP6, TULP1, TUSC3, TWIST1, TYMP, TYR, TYRP1, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34, WDR36, WFS1, WRN, XYLT1, XYLT2, ZEB1, ZFHX4, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644