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
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- Methodology Notes
- LR-PCR (MYLK exons 15-18), MLPA:COL3A1, FBN1, TGFBR2, and TGFBR1
- Disease/Condition
- Thoracic aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm
Dernière Mise à Jour: 18 juin 2025