6040

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) Tyrosinemia GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List FAH, GSTZ1
GTD Category Metabolic GTD Disease/Condition Tyrosinemia Type 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1