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Displasia Septo-Óptica |
Painel por Sequenciamento de Próxima Geração |
HESX1, SOX2, SOX3, OTX2, TCF7L1, FGFR1, FGF8, PROKR2, FLNA |
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Ehlers-Danlos, Cutis Laxa e Aneurismo Aórtico |
Painel por Sequenciamento de Próxima Geração |
FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, ELN, FBLN5, ACTA2, ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FBN1, FBN2, FKBP14, FLNA, MAT2A, MED12, MYH11, MYLK, NOTCH1, P4HA1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 |
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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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Heterotopia Nodular Periventricuar |
Painel por Sequenciamento de Próxima Geração |
ARFGEF2, ARX, ASXL2, DLL1, ERMARD, FLNA, GSTA2, KIAA1803, MAN1A2, MAP1B, NEDD4L, PHF10, PQBP1, RCAN1, SCN1A, THBS2, TSC1, YWHAE |
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Cardiopatias |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, FOXC2, FOXL1, GAA, GJA1, GLA, HAND1, HCN4, IRX4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CALR3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, LAMA4, LDB3, LRRC10, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX25, NPPA, PDLIM3, PLEKHM2, PRDM16, TGFB3, TMPO, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, ACADVL, ALMS1, CPT2, DNAJC19, ELAC2, MTO1, SDHA, TMEM70, ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TBX5, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6 |
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Arteriopatias |
Sequenciamento Completo do Gene + Análise de Deleção/Duplicação |
ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, MAT2A, SMAD6 |
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Deficiência Intelectual Ligada ao X |
Painel por Sequenciamento de Próxima Geração |
ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF711, ZNF81 |
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Migração Neuronal, Transtorno, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACTB, ACTG1, ADGRG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62 |
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Displasia Esquelética |
Painel por Sequenciamento de Próxima Geração |
ACAN, ACP5, AGPS, ALPL, ANKH, ANO5, ARHGAP31, ARSE, ATP6V0A2, B3GALT6, B4GALT7, BMP2, BMPR1B, CA2, CANT1, CASR, CC2D2A, CDH3, CDKN1C, CEP290, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CTSK, CUL7, DDR2, DHCR24, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, GNAS, GORAB, GPC6, GREM1, HDAC4, HES7, HOXD13, HPGD, HSPG2, ICK, IFITM5, IFT122, IFT140, IFT80, IHH, KIF22, KIF7, LEMD3, LFNG, LIFR, LMBR1, LMNA, LRP4, LRP5, MAFB, MATN3, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PHEX, PIGV, PITX1, PLOD2, PPIB, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RASGRP2, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SERPINF1, SERPINH1, SH3PXD2B, SHH, SHOX, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SOX9, SP7, SULF1, TBCE, TB |
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Malformações Cerebrais / Transtorno de Migração Neuronal, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACTB, ACTG1, ADAR, ADGRG1, AFF2, AGTR2, AKT1, AKT3, ALDH7A1, AP1S2, ARFGEF2, ARHGEF15, ARHGEF6, ARX, ASAH1, ASPA, ASPM, ATP13A2, ATP6AP2, BRWD3, C19ORF12, CACNA1H, CACNB4, CASK, CASR, CCND2, CDK5, CDK5RAP2, CDKL5, CDON, CECR1, CENPJ, CEP152, CHD2, CHD8, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, COL4A1, COL4A2, CP, CSTB, CUL4B, CYP27A1, DARS, DCAF17, DCX, DEPDC5, DIS3L2, DISP1, DKC1, DLG3, DLL1, DOK7, DYRK1A, EEF1A2, EFHC1, EIF2B3, EIF2B5, EIF2S3, EMX2, EOMES, EPM2A, EXOSC3, EZH2, FA2H, FGD1, FGF8, FGFR3, FLNA, FOXG1, FOXH1, FTL, FTSJ1, GABRA1, GABRD, GABRG2, GALC, GAMT, GAS1, GDI1, GK, GLDC, GLI2, GLI3, GNAQ, GOSR2, GPC3, GPSM2, GRIA3, GRIN2A, HCFC1, HCN1, HDAC8, HEPACAM, HERC2, HGSNAT, HNRNPDL, HPRT1, HSD17B10, HTRA1, HUWE1, IDS, IFIH1, IGBP1, IKBKAP, IL1RAPL1, IQSEC2, ITM2B, JAM3, KATNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1BP, KIF2A, KIF5C, KIF7, KLF8, KPTN, L1CAM, LAMB1, LGI1, MAGT1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MEF2C, MID1, MLC1, MYBPC1, NAA10, NDE1 |
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Malformações Cerebrais |
Painel por Sequenciamento de Próxima Geração |
AKT3, ARFGEF2, ARX, C6ORF70, COL4A1, DCX, DYNC1H1, DYRK1A, EMX2, EOMES, FLNA, GPR56, HESX1, IER3IP1, KIF2A, KIF5C, MBD5, MEF2C, MTOR, NDE1, OCLN, PAFAH1B1, PAX6, PIK3CA, PIK3R2, RELN, SHH, SIX3, SRPX2, TBC1D24, TGIF, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, ZEB2, ZIC2 |
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Heterotopia Nodular Periventricular |
Painel por Sequenciamento de Próxima Geração |
ARFGEF2, FLNA |
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Filamina A, Síndromes Relacionadas |
Sequenciamento Completo do Gene + Análise de Deleção/Duplicação |
FLNA |
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Ehlers-Danlos, Síndrome |
Painel por Sequenciamento de Próxima Geração |
ACE, ACTA2, ADAMTS2, AEBP1, ALDH18A1, ARFGEF2, ASPN, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BMP1, C1R, C1S, CALCR, CBS, CHST14, CILP, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, EMX2, FBLN5, FBN1, FBN2, FCN3, FKBP14, FLCN, FLNA, GORAB, GP6, GZF1, HRAS, IFITM5, ITGA2, ITGB4, KIF22, LAMA3, LAMB3, LAMC2, LOXL3, LRP2, LRP5, LTBP4, MAT2A, MED12, MFAP5, MMP1, MYH11, MYLK, NOTCH1, P3H1, P4HA1, PDLIM4, PIK3R1, PLOD1, PPIB, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, SHH, SIX3, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SMS, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TMEM38B, TNXB, VCAN, VDR, WNT1, ZNF469 |
