6046

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) Urea Cycle Disorders GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List CPS1, NAGS, OTC
GTD Category Metabolic GTD Disease/Condition Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1