1026

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Amniocyte CVS GTD Test Methodology CNV Sequencing GTD Methodology Notes Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage, MLPA (TGFBR1 and TGFBR2). Generic Test name (cms title) Loeys-Dietz Syndrome GTD Test type Gene Panel GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
GTD Category Cardiogenetics Connective Tissue GTD Disease/Condition Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2