4065

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Buccal Swab Saliva GTD Test Methodology Sequencing Generic Test name (cms title) Maple Syrup Urine Disease GTD Test type Single Gene GTD Location London Health Sciences Centre GTD Gene/Platform/Region List BCKDHA
GTD Category Metabolic GTD Disease/Condition Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD