Aortopathy, NGS
Detect genetic variants associated with hereditary aortic disorders; guide management and prevention.
Genelist (63): ABCC6, ABL1, ACTA2, ADAMTSL4, ADAMTS10, ADAMTS17, ADAMTS2, ALDH18A1, AEBP1 , ATP7A, B3GALT6 , B3GAT3 , B4GALT7 , BGN , CBS, CHST14 , COL12A1 , COL1A1 , COL1A2 , COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COLGALT1, DSE , EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA , FOXE3, GATA5, HCN4, LOX , LTBP3, MAT2A, MED12 , MFAP5 , MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4 , SMAD6 , SPARC, TGFB2 , TGFB3 , TGFBR1, TGFBR2, TNXB , ZNF469
Featured Review
Detect genetic variants associated with hereditary aortic disorders; guide management and prevention.
Genelist (63): ABCC6, ABL1, ACTA2, ADAMTSL4, ADAMTS10, ADAMTS17, ADAMTS2, ALDH18A1, AEBP1 , ATP7A, B3GALT6 , B3GAT3 , B4GALT7 , BGN , CBS, CHST14 , COL12A1 , COL1A1 , COL1A2 , COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COLGALT1, DSE , EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA , FOXE3, GATA5, HCN4, LOX , LTBP3, MAT2A, MED12 , MFAP5 , MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4 , SMAD6 , SPARC, TGFB2 , TGFB3 , TGFBR1, TGFBR2, TNXB , ZNF469