6038

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 BOLA3, DLAT, DLD, LIAS, LIPT1, LIPT2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, TPK1
GTD Category Mitochondrial GTD Disease/Condition Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, PDH E2 Deficiency, DLD Deficiency, Hyperglycinemia-lactic acidosis-seizures, Lipoyltransferase Deficiency, Multiple Mitochondrial Dysfunctions Syndrome 1, Pyruvate Carboxylase, Pyruvate Dehydrogenase Deficiency, PDHE1-alpha, PDHE1-beta, PDH-X, CMT X-linked Type 6, PDH Phosphatase Deficiency, Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 5