6015

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) Galactosemia GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List GALE, GALK1, GALM, GLUT2 (SLC2A2)
GTD Category Metabolic GTD Disease/Condition Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)