Thoracic aneurisms and aortic dissections

Test Information

Title
Thoracic aneurisms and aortic dissections
Lab
Category
Cardiogenetics
Test Name (CMS Title)
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
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
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 14, 2025

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