The CDL offers a core testing panel sequencing 8 genes involved in familial aneurysmal disorders, particularly Marfan syndrome and Loeys-Dietz syndrome: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3, and SMAD4. This panel is recommended for those individuals with clinical characteristics of Marfan or Loeys-Dietz syndrome including arterial aneurysms, dissection, rupture) and a family history of similar complications.
The CDL offers a testing panel sequencing 25 genes associated with familial arterial aneurysms, including genes for Marfan Syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos Syndrome, and TAAD: ACTA2, COL3A1, FBN1, FBN2, MAT2A, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, FOXE3, BGN, LOX, MFAP5, NOTCH1, PLOD3, SMAD2, SMAD4, SMAD6, COL1A1, and CBS. This panel is recommended for those individuals with vascular complications (arterial aneurysms, dissection, rupture) and a family history of similar complications with features overlapping with Marfan Syndrome and vascular Ehlers-Danlos Syndrome. Please consult our Test Guide on Familial Aneurysm for more information.