Basis-Diagnostik
PDHA1, PDSS1, PDSS2, POLG, SCO2, SDHA, SLC19A3, SUCLA2, SUCLG1, SURF1, TRMU
Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen
Erweiterte Diagnostik
AARS, C10orf2, EARS2, ETFA,ETFB, ETFDH, ETE1, FARS2, FASTKD2, FBXL4, FOXRED1, GFAP, GFER, GFM1, IBA57, LRPPRC, LYRM7, MARS2, MICU1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, PTCD1, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, SERAC1, SLC19A2, SLC19A3, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2