1039

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