Panel Sindrom Marfan si boli de tesut conjunctiv inrudite

91 Gene analizate prin secvențiere NGS:

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1S, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, LEMD3, LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, P3H1, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, ZNF469