What are Neurometabolic Disorders?
Neurometabolic disease is a broad term used to describe a diverse group of disorders that impair central nervous system function. These rare disorders can result from a variety of genetic abnormalities that are characterized by a lack or dysfunction of an enzyme necessary for a specific chemical reaction in the body. Although individually rare, these disorders as a group lead to a significant clinical burden.
Our Neurometabolic Disease Testing Approach
As a market leader in the diagnosis of rare inherited neurological disorders, MNG is proud to offer a portfolio of targeted biochemical and genetic tests that concentrate on the detection and analysis of specific molecules in cerebrospinal fluid (CSF) and mutations in DNA responsible for the clinical symptoms of our patients. Our major focus is movement and seizure disorders but we also test for disruptions in metabolic pathways that are involved in degradation and synthesis of various important molecules serving as building blocks of the cell.
Cerebrospinal Fluid Testing
At MNG Laboratories we believe that if an invasive lumbar puncture must be performed, the testing available should be as comprehensive as possible. MNG’s CSF testing examines defects affecting the metabolism of neurotransmitters (serotonin, catecholamines, and GABA), pyridoxal 5’-phosphate, amino acids, and folic acid. In addition, we offer CSF sialic acid analysis for disorders of sialic acid metabolism, succinyladenosine as a specific marker for adenylosuccinate lyase deficiency, lactate, pyruvate, glucose for disorders that disrupt cellular energetics, and neopterin as a marker for central nervous system immune system stimulation. Much of our testing menu focuses on treatable disorders where a diagnosis can have a meaningful impact on patient care. This approach offers proven diagnostics to provide the answers you need to make a difference in the lives of your patients suffering from neurometabolic conditions.
To complement our small molecule testing and to further improve on the diagnostic sensitivity of our testing menu, we also offer a robust catalog of next-generation sequencing (NGS) panels targeting many of the same biosynthetic and metabolic pathways as our CSF testing. Our Neurotransmitter Metabolism Deficiency panel focuses on a wide-range of genes integral to proper neuron signaling. We also have specific panels that provide the option for a more focused look at GABA, Dopamine, and Serotonin metabolism. In addition, our genetic testing portfolio also includes a comprehensive set of NGS panels that investigate metabolic disorders. These include our Comprehensive Cellular Energetics Defects panel as well as panels that detect defects in protein, lipid, and carbohydrate metabolism and biosynthesis of various cofactors and vitamins. The Comprehensive Cellular Energetics Defects panel and many other panels that target diseases potentially caused by mitochondrial malfunction also include the analysis of mtDNA both for point mutations and deletions to increase our diagnostic sensitivity.
Explore Our Test Directory
MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our Neurogenetic Answers™ reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels. Our team-based approach to variant assessment ensures we provide you with the variants that cause or are likely to cause disease and keep the number of variants of unknown significance to a minimum. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports. Please contact us to learn more about how we may serve you and your patients.