6023

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Dried Blood Spot (accepted ONLY for exceptional circumstances) GTD Test Methodology Sequencing Generic Test name (cms title) Amino Acid Disorders GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List BCKDHA, BCKDHB, DBT, DLD
GTD Category Metabolic GTD Disease/Condition Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD