Login do usuário

SKI

Exames relacionados Estratégia de Análise Gene relacionado
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
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
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
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
Shprintzen-Goldberg, Síndrome Sequenciamento Completo do Gene SKI
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
Subscrever SKI