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PYCR1

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
Ehlers-Danlos, Síndrome Painel por Sequenciamento de Próxima Geração ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBLN5, FKBP14, FLNA, GORAB, GZF1, HRAS, KIF22, LTBP4, PIK3R1, PLOD1, PPP1CB, PYCR1, RIN2, SLC2A10, SLC39A13, TNXB
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
Subscrever PYCR1