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BBS1

Exames relacionados Estratégia de Análise Gene relacionado
Síndromes Clinicamente Reconheciveis Painel por Sequenciamento de Próxima Geração ALMS1, ANKRD11, ARHGAP31, ARID1B, ARL6, ATR, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BRAF, CBL, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CREBBP, DHCR7, DOCK6, EDN3, EDNRB, ELP4, EP300, ERCC8, EYA1, EZH2, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GPC3, GPR143, HDAC8, HRAS, IRF6, JAG1, KDM6A, KIF1BP, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MID1, MITF, MKKS, MKS1, MYBPC1, MYH3, MYH8, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RECQL4, ROR2, RPS6KA3, SALL1, SDCCAG8, SHOC2, SIX5, SKI, SLC45A2, SMAD3, SMC1A, SMC3, SNAI2, SOS1, SOX10, SPECC1L, SPRED1, SRCAP, STX16, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TRIM32, TTC8, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, ZEB2
Retinite Pigmentosa Painel por Sequenciamento de Próxima Geração ABCA4, AIPL1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C2ORF71, C8ORF37, CA4, CACNA1F, CDH23, CEP290, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DFNB31, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, KLHL7, LRAT, MAK, MERTK, MKKS, NPHP1, NPHP3, NPHP4, NR2E3, NRL, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1L, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TRIM32, TTC8, TULP1, USH1C, USH2A, WFS1, ZNF513
Distrofia de Retina / Fotoreceptor Painel por Sequenciamento de Próxima Geração ABCA4, ADAM9, AIPL1, BBS1, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR179, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, IQCB1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFN2, NDP, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PAX6, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TRPM1, TSPAN12, TTC8, TULP1, UNC119, USH2A, VCAN, ZNF513
Ciliopatias Painel por Sequenciamento de Próxima Geração AHI1, ANKS6, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, DYX1C1, EVC, EVC2, GAS8, GLIS2, IFT122, IFT140, IFT172, IFT80, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LRRC6, MCIDAS, MKKS, MKS1, MRE11, NEK1, NEK8, NME8, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD2, PKHD1, RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZMYND10, ZNF423
Bardet-Biedl, Síndrome Painel por Sequenciamento de Próxima Geração ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
Bardet-Biedl, Síndrome Painel por Sequenciamento de Próxima Geração BBS1, BBS2
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