List of diseases covered by
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
NGS panel

Gene Condition
ACTA2 Aortic aneurysm, familial thoracic 6; Moyamoya disease 5;
Multisystemic smooth muscle dysfunction syndrome
COL3A1 Ehlers-Danlos syndrome, vascular type
COL5A1 Ehlers-Danlos syndrome, classic type, 1
FBN1 Marfan syndrome; Marfan lipodystrophy syndrome; MASS syndrome;
Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2;
Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant
MYH11 Aortic aneurysm, familial thoracic 4
MYLK Aortic aneurysm, familial thoracic 7
TGFB2 Loeys-Dietz syndrome 4
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2