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
BGN Meester-Loeys syndrome;
Spondyloepimetaphyseal dysplasia, X-linked
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
LOX Aortic aneurysm, familial thoracic 10
MFAP5 Aortic aneurysm, familial thoracic 9
MYH11 Aortic aneurysm, familial thoracic 4
MYLK Aortic aneurysm, familial thoracic 7
NOTCH1 Aortic valve disease 1; Adams-Oliver syndrome 5
PRKG1 Aortic aneurysm, familial thoracic 8
TGFB2 Loeys-Dietz syndrome 4
TGFB3 Arrhythmogenic right ventricular dysplasia 1;
Loeys-Dietz syndrome 5
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2