6033

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Dried Blood Spot 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 ACO2, AFG3L2, ALG3, ANTXR1, ATP1A3, AUH, C19orf12, C1QBP, CCDC88A, CISD2, CLN3, DGUOK, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, FA2H, FDX2, FDXR, FH, GYG2, IBA57, ISCA2, KIF21A, KLC2, MECR, MFF, MFN2, MGME1, MICOS13, MTFMT, MTO1, MTPAP, MTRFR, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PANK2, PDHX, PDSS1, PHOX2A, PLA2G6, PLP1, POLG, POLG2, PRPS1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SNX10, SPG7, SUCLA2, TACO1, TCIRG1, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TUBB4A, TWNK, TYMP, UCHL1, WDR73, WFS1, YME1L1
GTD Category Mitochondrial GTD Disease/Condition Progressive external ophthalmoplegia (PEO), Optic-nerve degeneration, Optic Atrophy