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Microftalmia e Anoftalmia |
Painel por Sequenciamento de Próxima Geração |
SOX2, SHH, RAX, RARB, PXDN, PRSS56, PAX2, OTX2, MFRP, PITX2, MAB21L2, GDF6, FOXE3, ALDH1A3, BCOR, BMP4, HESX1, SALL4, VAX1, GDF3, STRA6, VSX2 |
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Retinopatias, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12ORF65, C1QTNF5, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTSD, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, IQCB1, ITM2B, KCNJ13, KCNV2, KCTD7, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G |
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Doenças Craniofaciais e Displasias Esqueléticas |
Painel por Sequenciamento de Próxima Geração |
ACP5, ADAMTS18, ADAMTSL2, ALPL, ALX1, ALX3, ALX4, ANO5, BMP1, CANT1, CHST14, CHST3, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRTAP, CTSK, DDR2, DLL3, DYM, DYNC2H1, EDN1, EFNB1, EIF2AK3, EIF4A3, ELN, ERF, EVC, EVC2, EXT1, FBLN5, FBN1, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, GALNS, GDF5, GDF6, GJA1, GLB1, GLI2, GLI3, GNAI3, GNAS, GRHL3, HES7, HUWE1, IFITM5, IFT80, IL11RA, IRF6, KIF22, LEMD3, LEPRE1, LFNG, LIFR, LMNA, LRP5, MATN3, MESP2, MMP13, MMP9, MSX1, MSX2, NF2, NKX3-2, NOG, NPR2, OFD1, PAPSS2, PLCB4, PLOD1, PLOD2, PLS3, POLR1C, POLR1D, POR, PPIB, PRKAR1A, PTCH1, PTH1R, PVRL1, RAB23, RECQL4, RMRP, ROR2, RUNX2, SALL1, SATB2, SBDS, SERPINF1, SERPINH1, SH3BP2, SHH, SHOX, SIX3, SLC26A2, SMARCAL1, SOST, SOX9, SP7, SPARC, TBX1, TBX22, TBX6, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, TMEM38B, TNFRSF11A, TP63, TRAPPC2, TRIP11, TRPS1, TRPV4, TSHZ1, TWIST1, WNT1, WNT3, ZIC1, ZIC2 |
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Klippel-Feil, Síndrome |
Sequenciamento Completo do Gene |
GDF6 |
