Hereditary Metabolic Disorder
What Is It?
The Hereditary Metabolic NGS test analyzes genes associated with inherited metabolic disorders—conditions that affect how the body converts food into energy. This test detects genetic mutations responsible for enzyme deficiencies or metabolic pathway disruptions that can lead to serious health issues. By identifying these variants, healthcare providers can confirm or clarify diagnoses, guide treatment decisions, and support early intervention to prevent or reduce disease complications.
Why It Matters?
This test is beneficial because it identifies genetic mutations responsible for inherited metabolic disorders, enabling early and accurate diagnosis. Early detection allows for timely interventions, personalized treatment plans, and better management of symptoms—helping prevent serious complications and improve long-term patient outcomes.