SÍNDROME DE LEIGH: PANEL-2 NGS – 50 genes

Secuenciación por NGS: ACAD9, APOPT1, BCS1L, C10ORF2, COQ2, COX10, COX15, COX6B1, DLD, FASTKD2, FOXRED1, GYG2, IARS2, LIPT1, LRPPRC, MTFMT, NDUFA1, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, SDHA, PDHA1, PDHB, PDSS2, PET100, SCO1, SCO2, SDHAF1, SLC19A3, SUCLA2, SURF1, TACO1, TTC19 & TUFM