NGS analýza - Retinitis pigmentosa
ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AHI1, AHR, AIPL1, ALMS1, ARL2BP, ARL3, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2 (CFAP410), C2ORF71 (PCARE), C8ORF37, CA4, CABP4, CACNA1F, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A1, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CYP4V2, DHDDS, DHX38, EFEMP1, ELOVL4, EMC1, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMX1, HTRA1, CHM, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFRP, MKKS, MKS1, MVK, MYO7A, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OTX2, PANK2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPP2, TIMP3, TMEM237, TOPORS, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTPA, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZNF408, ZNF423, ZNF513