6024

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 AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APTX, ATP5F1E, ATPAF2, BCS1L, BOLA3, COQ2, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GFER, GFM1, GFM2, HLCS, HSPD1, LARS2, LIAS, LMBRD1, LRPPRC, MARS2, MFN2, MPV17, MRPS16, MTFMT, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHD, SERAC1, SLC19A3, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TIMM44, TK2, TMEM70, TOMM20, TPK1, TRMU, TSFM, TTC19, TUFM, TUSC3, TWNK, TYMP, UQCRB, UQCRQ, YARS2
GTD Category Mitochondrial GTD Disease/Condition Mitochondrial Encephalopathy (MELAS), Leigh Disease, subacute necrotizing encephalopathy (SNE)