Mitochondrial Encephalopathy/Leigh Disease

Test Information

Title
Mitochondrial Encephalopathy/Leigh Disease
Category
Mitochondrial
Test Name (CMS Title)
Mitochondrial nuclear gene
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
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
Mitochondrial Encephalopathy (MELAS), Leigh Disease, subacute necrotizing encephalopathy (SNE)

Last Updated: November 14, 2025