4074

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Muscle Tissue Urine GTD Test Methodology CNV Sequencing Generic Test name (cms title) Mitochondrial Genome GTD Test type Gene Panel GTD Location London Health Sciences Centre GTD Gene/Platform/Region List APTX, COX1, COX2, COX3, CYTB, DGUOK, DNA2, FBXL4, GFER, MGME1, MPV17, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, OPA1, OPA3 (isoform A & B), POLG, POLG2, RRM2B, SLC25A4, SPG7 (isoform 1 & 2), SUCLA2, SUCLG1, TK2, TWNK (C10orf2), TYMP
GTD Category Mitochondrial GTD Disease/Condition Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO