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| Indikation |
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| Material | |
| Klinische Fragestellung | Netzhauterkrankungen |
| Gene | ABCA4 ABCC6 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADGRA3 ADGRV1 ADIPOR1 AGBL5 AHI1 AHR AIPL1 ALMS1 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSG ASRGL1 ATF6 ATOH7 B9D1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CCT2 CDH23 CDH3 CDHR1 CEP164 CEP19 CEP250 CEP290 CEP41 CEP78 CEP83 CERKL CFAP410 CHM CIB2 CISD2 CLCC1 CLN3 CLRN1 CLUAP1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 CPLANE1 CRB1 CRX CSPP1 CTNNA1 CWC27 CYP4V2 DHDDS DHX38 DRAM2 DTHD1 EFEMP1 ELOVL4 EMC1 EXOSC2 EYS FAM161A FLVCR1 FRMD7 FSCN2 FZD4 GDF6 GNAT1 GNAT2 GNB3 GNPTG GPR143 GPR179 GRM6 GUCA1A GUCA1B GUCY2D HARS1 HGSNAT HK1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT80 IFT81 IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 JAG1 KCNJ13 KCNV2 KIAA0586 KIAA1549 KIF11 KIF3B KIF7 KIZ KLHL7 LCA5 LRAT LRIT3 LRP2 LRP5 LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MKKS MKS1 MPDZ MTTP MYO7A NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NYX OAT OCA2 OFD1 OPA1 OPA3 OPN1SW OTX2 P3H2 PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PITPNM3 PLA2G5 PLK4 PNPLA6 POC1B POMGNT1 PRCD PRDM13 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SAMD11 SCLT1 SDCCAG8 SEMA4A SLC24A1 SLC45A2 SLC7A14 SNRNP200 SPATA7 SPP2 TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TMEM107 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TPP1 TRAF3IP1 TREX1 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TTPA TUB TUBGCP4 TUBGCP6 TULP1 TYR TYRP1 UNC119 USH1C USH1G USH2A VCAN VPS13B WDPCP WDR19 WFS1 WHRN ZNF408 ZNF423 ZNF513 |
| Methode | Next Generation Sequencing. NGS |