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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 (FBN1). Generic Test name (cms title) Marfan Syndrome GTD Test type Single Gene GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List FBN1 GTD Category Cardiogenetics Connective Tissue GTD Disease/Condition FBN1-Related Marfan Syndrome, Marfan Syndrome, Neonatal Marfan syndrome, Marfan syndrome type 2