Progressive external ophthalmoplegia (PEO) and Optic atrophy
Test Information
- Titre
-
Progressive external ophthalmoplegia (PEO) and Optic atrophy
- Catégorie
- Mitochondrial
- Test Name (CMS Title)
-
Mitochondrial nuclear gene
- Gene/Platform/Region List
-
ACO2, AFG3L2, ALG3, ANTXR1, ATP1A3, AUH, C19orf12, C1QBP, CCDC88A, CISD2, CLN3, DGUOK, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, FA2H, FDX2, FDXR, FH, GYG2, IBA57, ISCA2, KIF21A, KLC2, MECR, MFF, MFN2, MGME1, MICOS13, MTFMT, MTO1, MTPAP, MTRFR, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PANK2, PDHX, PDSS1, PHOX2A, PLA2G6, PLP1, POLG, POLG2, PRPS1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SNX10, SPG7, SUCLA2, TACO1, TCIRG1, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TUBB4A, TWNK, TYMP, UCHL1, WDR73, WFS1, YME1L1
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Augmented exome backbone
- Disease/Condition
-
Progressive external ophthalmoplegia (PEO), Optic-nerve degeneration, Optic Atrophy
Dernière Mise à Jour: 09 décembre 2025