Genetic Test Details
Mitochondrial Encephalopathy/Leigh Disease
Test Information
- Titre
- Mitochondrial Encephalopathy/Leigh Disease
- Catégorie
- Mitochondrial
- Sub Category
- 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
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- Augmented exome backbone
- Disease/Condition
- Mitochondrial Encephalopathy (MELAS), Leigh Disease, subacute necrotizing encephalopathy (SNE)
Dernière Mise à Jour: 18 juin 2025