New Mitochondrial test at GeneDx!
Comprehensive Analysis of 101 Nuclear Genes for Clinical Molecular Diagnosis of Mitochondrial Disorders by: Next-Generation Sequencing (using PCR-based sequence enrichment*) and Exon-Level Deletion/Duplication analysis.
Now GeneDx will offer Mito101, a new nuclear gene panel for mitochondrial disorders along with related disease-specific panels. Our current Mito24 Nuclear gene panel and smaller disease-specific panels will continue to be available until March 12, 2012. After March 12, 2012, the Mito24 nuclear gene panel will be discontinued.
*PCR-based sequence enrichment selectively amplifies only the genes of interest, thus avoiding many pseudogene/homologous sequence problems inherent to Targeted Capture methods which can cause both false positive and false negative results. Approximately 25% of human genes in the genome have pseudogenes (www.pseudogene.org).