Connective Tissue Disorders Panel

This panel Provides a profound one-step evaluation of several gene to detect different disorders with similar phenotypes, such as Marfan Syndrome, Loeys-Dietz, cutis laxa, Ehlers-Danlos, Stickler syndrome, and Familial thoracic aortic aneurysm and dissection.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:76 ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CREB3L1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, GORAB, ITGB4, LAMA3, LAMB3, LAMC2, LOX, LRP2, LTBP3, MBTPS2, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, SPARC, TENT5A, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VCAN, WNT1, ZNF469