Rare Diseases

New Hope for Rare Disease Treatments

Rare diseases encompass a heterogeneous group of life-threatening conditions ranging from digestive to autoimmune diseases. While rare diseases, as the name suggests, have a low incidence, they are challenging to diagnose and represent a significant unmet need for both patients and clinicians. The struggle lies in both diagnosing the patient and providing appropriate treatments in a timely manner.  As of 2022, there are approximately 10,000 distinct rare diseases, and 400 million people worldwide are affected by a rare disease.1 Up to 80 percent of rare diseases are genetic, and related symptoms can be challenging to pinpoint, further delaying diagnosis.2 Metabolon offers a comprehensive approach to identifying rare disease biomarkers by measuring hundreds of metabolites in a single sample.

Diagnosing Rare Diseases

Approximately 4% of the total world population is affected by a rare disease, but the true number is likely much greater since identifying the specific cause of a rare disease can take years.3 During this time, patients can experience several severe symptoms until the underlying cause and an optimal treatment can be identified. Traditional diagnostics rely on multiple targeted panels and numerous sample types to perform a complete patient assessment and make a conclusive diagnosis across a broad array of rare diseases. More comprehensive clinical tests to interrogate patient samples can be the key to identifying biomarker signatures, allowing clinicians to determine the correct diagnosis and prescribe treatment. Metabolomic profiling can reveal underlying changes in biology compared to a healthy population that can be associated with a known or a new disease. This information also provides the opportunity to discover new therapies and evaluate therapeutic efficacy.

Metabolomics Drives Rare Disease Diagnosis

Metabolomics can identify biomarkers of disease for numerous rare diseases because it can examine the metabolic profiles of individual patients and link the changes to specific genetic mutations.4

By providing a comprehensive assessment of the metabolome for these patients, Metabolon’s technology provides in-depth coverage of multiple pathways that can be altered in patients with a rare disease. Rather than targeting these pathways and enzymes with single tests and collecting numerous biological specimens, Metabolon’s analysis provides an efficient means to provide clinicians with critical information to make quicker diagnoses in these patients.

A Comprehensive Analysis of the Metabolome

Biochemical signatures identified through our Global Discovery Panel provide indicators and a clear path to clinical diagnosis with one test, whereas traditional diagnostic methods require multiple tests that may still not offer answers. We are unique in our ability to extract information on a large number of diseases from a single sample and provide impactful results. This is made possible using our validated metabolomics technology that adheres to stringent Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP) regulations and standards.

See how Metabolon can advance your path to preclinical and clinical insights

Global Discovery Panel

Metabolon’s LC-MS global metabolomics platform provides a high-fidelity, reproducible analysis of the current-state of a biological system to help identify pharmacodynamic, efficacy and response biomarkers and reveal changes in key biological pathways. Metabolon’s unmatched chemical library and expertise identifies, tracks, and maps the different classes of metabolites and pathways that inform your study and reveal meaningful actionable insights.

Global Discovery Panel
Complex Lipids Targeted Panel

Complex Lipids Targeted Panel

Metabolon has overcome the challenges of lipid profiling to create the only platform able to provide both complete and quantitative lipidomic analysis.

Amino Acids Targeted Panel

Amino acids (AA) are the foundational building blocks for peptides and proteins. These small molecules regulate metabolic pathways that are involved in cell maintenance, growth, reproduction, and immunity. Branched chain amino acids play a large role in building muscle tissue and participate in increasing protein synthesis. Amino acids also play a role in cell signaling, gene expression and protein phosphorylation. Maintaining an optimal balance of amino acids is vital to maintaining a stable equilibrium of physiological processes.
Amino Acids Targeted Panel
Bile Acids Targeted Panel

Bile Acids Targeted Panel

Bile acids are derived from cholesterol and serve an important role in emulsifying and digesting lipids. In addition, their metabolism is intimately involved with the microbiota, and they have been shown to exhibit endocrine and metabolic activity via receptors like FXR and TGR5. The Bile Acids Targeted Panel measures all the major human and rodent primary and secondary bile acids as well as their glycine and taurine conjugates.

Why Metabolon?

Once you see the full value of metabolomics, the only remaining question is who does it best? While many laboratories have metabolite profiling or analytical chemistry capabilities, comprehensive metabolomics technologies are extremely rare. Accurate, unbiased metabolite identification across the entire metabolome introduces signal-to-noise challenges that very few labs are equipped to handle. Also, translating massive quantities of data into actionable information is slow, if not impossible, for most because proper interpretation takes two things that are in short supply: experience and a comprehensive database.

Only Metabolon has all four core metabolomics capabilities



Ability to interrogate thousands of metabolites across diverse biochemical space, revealing new insights and opportunities



Ability to integrate the data from different studies into the same dataset, in different geographies, among different patients over time


Ability to inform on proper study design, generate high‐quality data, derive biological insights, and make actionable recommendations


Ability to process hundreds of thousands of samples quickly and cost‐efficiently to service rapidly growing demand

Partner with Metabolon to access:


A library of 5,400+ known metabolites, 2,000 in human plasma, all referenced in the context of biochemical pathways

  • That’s 5x the metabolites of the closest competitor

Unparalleled depth and breadth of experience analyzing and interpreting metabolomic data to find meaningful results

  • 10,000+ projects with hundreds of clients
  • 2,000+ publications covering 500 diseases, including numerous peer-reviewed journals such as Cell, Nature and Science
  • Nearly 40 PhDs in data science, molecular biology, and biochemistry

Using our robust platform and visualization tools, our experts are uniquely able to tell you more about your molecule and develop assay panels to help you zero in on the results you need.

Contact Us

Talk with an expert

Request a quote for our services or more information on sample types and handling procedures, need a letter of support, or simply have questions about how metabolomics can advance your research.

Corporate Headquarters

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Mailing Address:
P.O. Box 110407
Research Triangle Park, NC 27709

+1 (919) 572-1711

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International Headquarters

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This test was developed, and its performance characteristics were determined by Metabolon, Inc. It has not been cleared or approved by the U.S. Food and Drug Administration. Metabolon is regulated under the Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP) as an accredited laboratory to perform high-complexity clinical testing.  Test results should be interpreted in conjunction with other laboratory and clinical data available to the clinician.


1. Global Genes:RARE Disease Facts. 2022. https://globalgenes.org/rare-disease-facts/

2. Hartin SN, Means JC, Alaimo JT, Younger ST. Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. Mol Med. 2020;26(1):117. Epub 20201125. doi: 10.1186/s10020-020-00244-5. PubMed PMID: 33238891; PubMed Central PMCID: PMC7691058.

3. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73. Epub 20190916. doi: 10.1038/s41431-019-0508-0. PubMed PMID: 31527858; PubMed Central PMCID: PMC6974615.

4. ​Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, et al. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019;13:394. Epub 20190508. doi: 10.3389/fnins.2019.00394. PubMed PMID: 31133775; PubMed Central PMCID: PMC6517487.