Metabolon Launches Meta UDx™ Test to Speed Diagnosis of Rare and Undiagnosed Diseases in Children and Adults

Posted In: Company News

Meta UDx provides in-depth metabolic information and new insights for difficult-to-diagnose patient cases. Expanding LDT clinical testing portfolio demonstrates value of clinical metabolomics for rare and undiagnosed diseases

RESEARCH TRIANGLE PARK, N.C. — February 28, 2018 — Metabolon, Inc., the global leader in metabolomics, announced today that its Meta UDx™ test is now available to empower clinicians to solve rare disease and difficult-to-diagnose pediatric and adult patient cases. Meta UDx is analytically validated under Clinical Laboratory Improvement Amendments (CLIA) as a laboratory-developed test (LDT). Time- and cost-effective, the test requires only a small plasma sample and looks for biomarkers or biochemical pathway changes that may indicate metabolic effects associated with diseases or disorders. The insights provided by this metabolomics-based test may provide new, actionable information to clinicians that point them to confirmatory diagnosis testing, effective treatment options, and monitoring.

“Although I had been symptomatic for years, Meta UDx was the first and only test that showed abnormalities and could identify areas of concern,” said Frederick M. Ehmke, MD. “As a patient, the findings from metabolomics helped guide diagnostic testing and effective treatment options for me. As a medical doctor, I want to see this test become the first-line choice when patients present with a possible rare or undiagnosed disease.”

Almost every factor affecting health — from genetics and the microbiome to disease and lifestyle — exerts its influence by altering metabolite levels. Using advanced metabolomics technology to survey some 1,000 metabolites simultaneously, Meta UDx detects underlying pathway or biomarker abnormalities not measurable by other means. By producing the most accurate, comprehensive picture of these changes, Metabolon can help guide clinicians to answers for rare and difficult-to-diagnose diseases. Metabolon’s test menu also includes Meta IMD™ and Meta IMD™+ (Plus) for rare genetic disorders known as inherited metabolic disorders or inborn errors of metabolism.

“Undiagnosed diseases represent a large and expensive medical challenge. For many patients, their journey to a correct diagnosis takes years and is often accompanied by frustration and the expense of ineffective medical treatments,” said John Ryals, PhD, president and CEO at Metabolon. “Meta UDx is part of our growing portfolio of laboratory-developed tests that address unmet patient needs by providing clinicians with a new way to approach the diagnostic and treatment process. We believe this advance reinforces the tremendous value of metabolomics for clinical applications.”

“We have to remember that disease, particularly chronic, complex disease, involves a system,” said DeAunne Denmark, MD, PhD, a clinician-scientist and patient. “Meta UDx gave me and my clinicians multiple options for entry and treatment into that system – into the pathways involved in disease. Metabolon’s technology can be used to follow a disease course over time, as well as test patients while they are on treatment and when they experience a change in symptoms. This test is a powerful tool that allows one to monitor for positive and negative changes and take action.”

About Rare & Undiagnosed Diseases
According to Global Genes, a leading rare and undiagnosed disease patient advocacy organization, 30 million adults and children in the U.S. are living with rare diseases. This equates to one in 10 Americans, or 10 percent of the population. Like the U.S., Europe has approximately 30 million people living with rare diseases, and it is estimated that 350 million people worldwide suffer from rare diseases.

  • The average patient spends five to seven years searching for a proper diagnosis.
  • They typically consult with up to eight physicians, receiving two to three misdiagnoses.
  • Physicians (both primary care and specialists) often don’t have the time, resources, or information to properly diagnose and manage patients with rare diseases compared to more common diseases.

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