View all screenings for gene APEX2

1 entry on 1 page. Showing entry 1.

AscendingScreening ID     

Individual ID     






Variants found     


Date created     
0000000004 00000008 - DNA SEQ-NG-I - NuclearMitome – Comprehensive Sequence Analysis of 448 Nuclear Mitochondrial Genes Technical Details Methods and Limitations The Transgenomic NuclearMitome test is a comprehensive gene panel for variants in 448 nuclear genes important for mitochondrial function. Solution-based hybrid capture of the targeted genes coupled to next-generation sequencing on the Illumina® Genome Analyzer platform was used to identify DNA variants. All variants in dominant genes and all homozygous or compound heterozygous variants in recessive genes were confirmed by Sanger sequencing. Large deletions and duplications cannot be effectively characterized by this method. In addition, some regions of targeted genes cannot be effectively amplified and sequenced as a result of technical limitations of the assay. This report includes any detected variants categorized as deleterious or predicted deleterious mutations and variants of unknown significance. Benign variants are not reported. Rare sequence variants, regions of GC-rich structure or repetitive sequences may interfere with analysis. These results should be interpreted in the context of family history, clinical findings, and other laboratory data as appropriate. Interpretation and classification of variants are subject to change in light of new evidence. Not yet submitted Lishuang Shen 2013-12-04 15:01:50