CID10: H35.3, Q87.8, H35.5, E75. 4, H53.3.
Especialidade: Oftalmologia, Genética
PRH - PAINEL DE RETINOPATIAS HEREDITÁRIAS
Material
SANGUE TOTAL OU SWAB BUCAL
Meio(s) de Coleta
Sangue: Tubo com EDTA (roxo) SWAB BUCAL: Kit coletor específico
Prazo
30 dias úteis
Realização
Segunda a sexta-feira
Volume Mínimo
4 mL
Método
SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
FORMULÁRIO OBRIGATÓRIO
RQ-0596 TERMO DE CONSENTIMENTO LIVRE E ESCLARECIDO PARA TESTE GENÉTICO
FORMULÁRIO OBRIGATÓRIO
RQ-0697 QUESTIONÁRIO - EXAMES GENÉTICOS
Interpretação
Doenças Relacionadas
Retinose Pigmentar, Síndrome de Bardet Biedl, Doença de Stargardt, Distrofia de Cones e Bastonetes, Lipofuscinose Ceróide Neuronal, Síndrome de Usher
Genes analisados
ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASRGL1, ATF6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFH, CHM, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL9A3, CPLANE1, CRB1, CROCC, CRX, CTNNA1, CTSD, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DYNC2H1, EFEMP1, ELOVL4, ESPN, EXOSC2, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, KCNJ13, KCNV2, KCTD7, KIAA1549, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OTX2, PANK2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PITPNM3, PNPLA6, POC5, PPP2R3C, PPP2R5E, PPT1, PRCD, 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, SAG, SCAPER, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, STX3, TCTN1, TCTN2, TEAD1, TIMM8A, TIMP3, TLCD3B, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, UNC119, USH1C, USH1G, USH2A, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZNF408, ZNF513, (278).
