PRH - PAINEL DE RETINOPATIAS HEREDITÁRIAS

Painel de NGS no qual é realizado o sequenciamento completo (éxons e regiões intrônicas flanqueadoras) e avaliação do número de cópias (CNV) por sequenciamento de nova geração (NGS) de genes relacionados a retinopatias de etiologia genética, incluindo diferentes formas de retinose pigmentar, síndrome de Bardet Biedl, doença de Stargardt, distrofia de cones e bastonetes, lipofuscinoses ceróides neuronais, síndrome de Usher, Amaurose Congênita de Leber e outras.

Retinose Pigmentar, Síndrome de Bardet Biedl, Doença de Stargardt, Distrofia de Cones e Bastonetes, Lipofuscinose Ceróide Neuronal, Síndrome de Usher

ABCA4 ABCB5 ABCC6 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADAMTS9 ADAMTSL4 ADGRV1 AFG3L2 AGBL5 AHI1 AHR AIPL1 ALMS1 ALPK1 AMACR ARFGAP2 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSG ASRGL1 ATF6 ATOH7 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CASK CC2D2A CDH23 CDH3 CDHR1 CEP120 CEP162 CEP164 CEP250 CEP290 CEP41 CEP78 CERKL CFAP20 CFAP410 CFAP418 CFH CHM CISD2 CLCC1 CLEC3B CLN3 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 CPLANE1 CRB1 CRPPA CRX CSPP1 CTNNA1 CTNNB1 CTSD CTSF CWC27 CYP4V2 DHDDS DHX38 DNAJC17 DNAJC5 DNM1L DRAM2 DYNC2H1 EFEMP1 ELOVL4 EMC1 ERCC6 ESPN EXOSC2 EYS FAM161A FBLN5 FDXR FLVCR1 FRMD7 FZD4 GDF6 GJB2 GNAT1 GNAT2 GNB3 GNPTG GPR143 GPR179 GRK1 GRM6 GRN GUCA1A GUCY2D HGSNAT HK1 HKDC1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT74 IFT88 IGFBP7 IMPDH1 IMPG1 IMPG2 INPP5E IQCB1 IRX5 ITM2B JAG1 KCNJ13 KCNV2 KCTD7 KIAA0586 KIAA0753 KIAA1549 KIF11 KIF3B KIF7 KIZ KLHL7 LAMA1 LARGE1 LCA5 LRAT LRIT3 LRMDA LRP2 LRP5 LYST LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MFSD8 MIR204 MKKS MKS1 MMACHC MTPAP MTRFR MTTP MVK MYO7A NBAS NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NUMB NYX OAT OCA2 OFD1 OPA1 OPA3 OPN1LW OPN1SW OTX2 P3H2 PAK2 PANK2 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 PGK1 PHYH PIBF1 PISD PLK4 PNPLA6 POC1B POC5 POMGNT1 PPP2R3C PPP2R5E PPT1 PRCD PRDM13 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PYGM RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SCAPER SCLT1 SDCCAG8 SEMA4A SIX6 SLC24A1 SLC24A5 SLC25A46 SLC30A7 SLC39A12 SLC45A2 SLC66A1 SLC6A6 SLC7A14 SNRNP200 SPATA7 SSBP1 STX3 SUFU TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TLCD3B TMEM107 TMEM126A TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TPP1 TRAF3IP1 TRAPPC3 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TUB TUBB4B TUBGCP4 TUBGCP6 TULP1 TXNDC15 TYR TYRP1 UNC119 USH1C USH1G USH2A USO1 USP45 VCAN VPS13B VSX2 WDPCP WDR19 WFS1 WHRN YME1L1 ZNF408 ZNF423 ZNF513