Developmental and Intellectual Disabilities
Genetic Testing for Metabolic and Mitochondrial Disorders
Understand your metabolism at the genetic level.
Inherited genetic changes can disrupt how the body produces energy, processes nutrients, or breaks down waste — leading to metabolic or mitochondrial disorders. These conditions often affect multiple organs and systems, sometimes from an early age, and may progress silently before symptoms are noticeable.
With genetic testing for metabolic and mitochondrial disorders, your DNA is analyzed using next-generation sequencing (NGS) to detect inherited variants linked to issues in energy production, enzyme function, or cellular metabolism. This includes conditions such as mitochondrial encephalopathy, fatty acid oxidation disorders, amino acid metabolism defects, and others.
Testing Process
A simple and non-invasive buccal swab is collected to obtain your DNA. Depending on your needs, testing can focus on specific metabolic or mitochondrial genes (targeted panels), all protein-coding genes (whole exome sequencing, WES), or your entire genome (whole genome sequencing, WGS), offering varying levels of detail and insight.
Benefits of Genetic Insights
Understanding your genetic profile can help uncover whether you carry changes associated with these complex conditions — even before symptoms appear — giving you the opportunity to make proactive, informed decisions about your health.