Painel Molecular de Displasias Esqueléticas

Painel destinado à pesquisa abrangente de síndromes genéticas.

Genes relacionados

ACAN; ACVR1; AMER1; EVC; ANKH; APP; AR; ARHGAP31; BMP1; BMP2; CLCN5; CTSA; CYP26B1; DLX3; DLX5; DMP1; FGF23; FGF9; GDF3; GH1; GHRHR; GORAB; GPC6; HOXD13; IDUA; IFITM5; IFT43; IHH; IMPAD1; NEU1; PHEX; PLEKHM1; SERPINF1; TCTN3; TNFSF11; WISP3; ZIC3; CYP2R1; FUCA1; TBX3; TBX5; WNT5A; ACP5; ALX1; CANT1; EVC2; COL9A2; CRTAP; CTSK; CUL7; DDR2; EIF2AK3; EXT1; FGFR1; FLNB; GDF5; GDF6; GJA1; GLB1; GLI2; GLI3; IL11RA; IRF6; LEPRE1; MESP2; MMP13; MSX1; MSX2; NKX3-2; NOG; PAPSS2; PHF8; POLR1C; POR; PVRL1; RUNX2; SALL1; SBDS; SERPINH1; SIX3; SLC26A2; SOST; SOX9; TCOF1; TGFBR1; TP63; TRPS1; ADAMTSL2; ALPL; ALX4; ANO5; CHST3; COL11A1; COL11A2; COL18A1; COL1A1; COL1A2; COL2A1; COL3A1; COL5A1; COL5A2; COL9A1; COL9A3; COMP; DLL3; DYM; DYNC2H1; EFNB1; ELN; FBLN5; FBN1; FGFR2; FGFR3; FIG4; FKBP10; FKBP14; FLNA; GALNS; GNAI3; GNAS; HES7; IFT80; KIF22; LEMD3; LIFR; LMNA; LRP5; MATN3; MMP9; NPR2; OFD1; PLOD1; POLR1D; PPIB; PTCH1; PTH1R; RAB23; RECQL4; ROR2; SATB2; SHH; SHOX; SMARCAL1; TBX1; TBX22; TFAP2A; TGFBR2; TGIF1; TNFRSF11A; TRAPPC2; TRIP11; TRPV4; TWIST1; WNT3; WNT7A

Material

  • Sangue total com EDTA (mínimo 4mL para crianças e até 8mL para adultos)
  • Sangue seco em papel filtro e swab de mucosa oral

Prazo

30 dias úteis