6001

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) Organic Acid Disorders GTD Test type Single Gene GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List ACAT1
GTD Category Metabolic GTD Disease/Condition Ketothiolase deficiency, Beta-keta thiolase deficiency