Genetic Test Details

Thoracic aneurisms and aortic dissections

Test Information

Title
Thoracic aneurisms and aortic dissections
Category
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, Cultured Cells, Amniocyte, CVS
Indications
Diagnosis, 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 aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm

Last Updated: November 26, 2025