Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen

Basis-Diagnostik

PDHA1, PDSS1, PDSS2, POLG, SCO2, SDHA, SLC19A3, SUCLA2, SUCLG1, SURF1, TRMU

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

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