GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
Cultured Cells
Amniocyte
CVS
GTD Test Methodology
CNV
Sequencing
GTD Methodology Notes
LR-PCR (MYLK exons 15-18), MLPA:COL3A1, FBN1, TGFBR2, and TGFBR1
Generic Test name (cms title)
Thoracic aneurisms and aortic dissections
GTD Test type
Gene Panel
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
ACTA2, ARIH1, COL3A1, EFEMP2, FBN1, FOXE3, LOX, MYH11, MYLK, PRKG1, ROBO4, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4
GTD Category
Cardiogenetics
GTD Disease/Condition
Thoracic aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm