geneCORE Whole Exome Sequencing Panel

The Whole Exome Sequencing (WES) panel with Mitochondrial sequencing is a comprehensive genetic test that analyzes the protein-coding regions of all genes in the genome (exome) as well as the mitochondrial DNA. This panel utilizes next-generation sequencing (NGS) technology to identify genetic variants, including single nucleotide variations (SNVs), small insertions/deletions (indels), and structural variations. By examining both nuclear and mitochondrial genomes, this test provides a broad understanding of genetic variations that can contribute to various inherited diseases, including mitochondrial disorders. The WES panel with Mitochondrial sequencing helps in diagnosing genetic conditions, identifying disease-causing variants, and guiding personalized treatment and management strategies for patients and their families.