Progressive external ophthalmoplegia (PEO) and Optic atrophy

Test Information
Test Name	Progressive external ophthalmoplegia (PEO) and Optic atrophy
Lab (Location)	Newborn Screening Ontario
Category	Mitochondrial
Subcategory	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	Gene Panel
Samples Accepted	Blood, DNA, Dried Blood Spot
Indications Diagnosis	Diagnosis, Carrier / Cascade Testing
Test Methodology	Sequencing
Methodology Notes	Augmented exome backbone
Diseases/Conditions	Progressive external ophthalmoplegia (PEO), Optic-nerve degeneration, Optic Atrophy