6049

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Dried Blood Spot (accepted ONLY for exceptional circumstances) GTD Test Methodology Sequencing GTD Methodology Notes Augmented exome backbone Generic Test name (cms title) Mitochondrial nuclear gene GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List L2HGDH, D2HGDH, IDH2, SLC25A1 GTD Category Mitochondrial GTD Disease/Condition Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria