Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections
Number of Panel Genes28
The Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms & Dissections, and Related Disorders NGS Panel is designed to be a cost effective method for detecting mutations in genes causing aneurysms of the aorta and its major branches. Mutations in the genes on this panel cause numerous disorders with variable but often overlapping phenotypes that should be considered in the differential diagnosis of patients presenting with aneurysms.
The Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms & Dissections, and Related Disorders NGS Panel is designed to be a cost effective method for detecting mutations in genes causing aneurysms of the aorta and its major branches. Mutations in the genes on this panel cause numerous disorders with variable but often overlapping phenotypes that should be considered in the differential diagnosis of patients presenting with aneurysms. In many instances, different mutations within any gene have been reported to result in variable phenotypes. The genes constituting this panel have been carefully selected so that they are truly representative of those associated with aneurysms of the major vessels.
The Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and related disorders NGS panel consists of twenty-eight genes: ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, LTPB3, MAT2A, MFAP5, MED12, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 and TGFBR2.
Copy number variation (CNV) analysis of the Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.
| Gene | Disorder | MIM | Inheritance |
| ACTA2 | Aortic aneurysm, familial thoracic 6 (AAT6) Multisystemic smooth muscle dysfunction syndrome |
611788, 613834 |
AD |
| BGN | Meester-Loeys syndrome (MRLS) | 300989 | XL |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency | 236200 | AR |
| COL3A1 | Ehlers-Danlos syndrome, type IV (EDSVASC) | 130050 | AD |
| COL5A1 | Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) | 130000 | AD |
| COL5A2 | Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) | 130010 | AD |
| FBN1 | Marfan syndrome (MFS) | 154700 | AD |
| FBN2 | Arthrogryposis, distal, type 9 (DA9) | 121050 | AD |
| FLNA | Cardiac valvular dysplasia, X-linked (CVD1) Periventricular nodular heterotopia 1 (PVNH1) |
314400 300049 |
XLR XLD |
| FOXE3 | Aortic aneurysm, familial thoracic 11, susceptibility to (AAT11) | 617349 | AD |
| LOX | Aortic aneurysm, familial thoracic 10 (AAT10) | 617168 | AD |
| LTBP3 | Aortic aneurysm and dissection, LTBP3 related | - | AD/AR |
| MAT2A | MAT2A related aortic aneurysm, familial thoracic | - | AD |
| MFAP5 | Aortic aneurysm, familial thoracic 9 (AAT9) | 616166 | AD |
| MED12 | Lujan-Fryns syndrome | 309520 | XLR |
| MYH11 | Aortic aneurysm, familial thoracic 4 (AAT4) | 132900 | AD |
| MYLK | Aortic aneurysm, familial thoracic 7 (AAT7) | 613780 | AD |
| NOTCH1 | Aortic valve disease 1 (AOVD1) | 109730 | AD |
| PRKG1 | Aortic aneurysm, familial thoracic 8 (AAT8) | 615436 | AD |
| SKI | Shprintzen-Goldberg craniosynostosis syndrome (SGS) | 182212 | AD |
| SLC2A10 | Arterial tortuosity syndrome (ATS) | 208050 | AR |
| SMAD2 | Arterial aneurysm and dissection, SMAD2 related | 617349 | AD |
| SMAD3 | Loeys-Dietz syndrome 3 (LDS3) | 613795 | AD |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) | 175050 | AD |
| TGFB2 | Loeys-Dietz syndrome 4 (LDS4) | 614816 | AD |
| TGFB3 | Loeys-Dietz syndrome 5 (LDS5) | 615582 | AD |
| TGFBR1 | Loeys-Dietz syndrome 1 (LDS1) | 609192 | AD |
| TGFBR2 | Loeys-Dietz syndrome 2 (LDS2) | 610168 | AD |
Gene(s)
MIM
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
