Metabolic Disorders Panel

Early detection for better management of metabolic disorders

GenviewDx laboratory’s Comprehensive Metabolism-associated gene panel consists of 199 genes, and mutations found in these genes are known to be involved in various monogenetic metabolic disorders in patients. Identification of causative mutations helps timely treatment. Specifically, these gene mutations produce non-functional enzymes in key metabolic pathways of energy usage, storage, and converting branches. As a result of these non-functional enzymes, metabolic intermediate toxic products accumulate in patients and cause various metabolic syndromes.

Although inherited metabolic disorders are rare events, the combined prevalence is estimated at 1:1000 to 1:2000 newborns, with common symptoms including poor feeding, irregular appetite, lethargy, jaundice, digestive problems, irregular weight regulation, seizures, developmental delays, and abdominal pain. In addition, there are non-specific warning signs such as high blood pressure, high cholesterol, and high triglyceride levels.

For example, glycogen storage disease, Parkinson disease, muscular dystrophy, maple syrup urine disease, myopathy, tyrosinemia, lipid storage disease, cerebral folate deficiency, and alkaptonuria are a few of the diseases revealed by GenviewDx’s comprehensive metabolic genetic panel test. Therefore, this comprehensive metabolism genetic test panel is recommended for anyone with associated symptoms or a personal or family history of metabolic disorders. The wide range of conditions covered in this panel makes it ideal for individuals with broad symptoms that could be linked to one of many different disorders.

Since some of the symptoms can also be a result of unrelated physiological disorders, this genetic test helps: a) confirm or rule out the diagnosis with specific gene mutation, b) personalize treatment options, c) indicate the risk factors for family members, and d) identify risks for other diseases and plan for prophylaxis treatment options.