Genetic Test Details
Thoracic aneurisms and aortic dissections
Test Information
- Titre
-
Thoracic aneurisms and aortic dissections
- Catégorie
- Cardiogenetics
- Sub Category
-
Thoracic aneurisms and aortic dissections
- Gene/Platform/Region List
-
ACTA2, ARIH1, COL3A1, EFEMP2, FBN1, FOXE3, LOX, MYH11, MYLK, PRKG1, ROBO4, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA, Amniotic Fluid, Chorionic Villi, Cultured cells - amniocytes or CVS
- Indications
- Diagnostics, Carrier Cascade Testing, Prenatal
- Test Methodology
- CNV, Sequencing
- Methodology Notes
-
LR-PCR (MYLK exons 15-18), MLPA:COL3A1, FBN1, TGFBR2, and TGFBR1
- Disease/Condition
-
Thoracic aneurysms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm
Dernière Mise à Jour: 04 juin 2026
