Online Inquiry

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.


Biomarker Development Service

Biomarkers refer to biological indicators used to measure various physiological or pathological states. The development of reliable biomarkers is essential for the early diagnosis and monitoring of rare diseases, as well as the outcome of prognostic evaluation. Our company provides all-round biomarker development service and in-depth solutions to speed up your understanding of the biomarker information related to rare diseases.

Biomarker Development in Rare Disease

The diagnosis of rare diseases is often faced with difficulties such as misdiagnosis and delayed diagnosis, and the heterogeneity of phenotypes of different individuals also increases the difficulty of accurate diagnosis. The identification of representative and indicative markers for the biological processes such as cell growth, proliferation, metabolism and apoptosis in individuals with rare diseases from scarce resources can provide accurate reference standards for diagnosis and therapeutics. Therefore, there is a need to develop biomarkers for rare diseases and understand the association and interaction of biomarkers in individuals with rare diseases.

Biomarker development Service-1Fig.1 Prospects for biomarkers in rare diseases (Tang et al. 2022)
  • Nucleic Acid Biomarker in Rare Diseases
    DNA and RNA are widely used as biomarkers in the study of rare diseases. Mutations in specific genes can be analyzed from DNA samples, and specific gene expression patterns can be analyzed from RNA samples to determine the mechanism of action of the mutated genes. Whole-genome sequencing or combined packs of specific gene tests have become convenient methods of diagnosing rare diseases.
  • Protein Biomarkers in Rare Diseases
    When a gene mutation occurs, the protein encoded by it is abnormal in structure or function, leading to the dysfunction of its downstream genes, which may cause a wide range of protein spectrum abnormalities. Detection of the level and composition of these proteins from the body fluids or tissues of the organism can reflect the exact pathological situation. As an abnormally elevated level of VEGF protein in the blood is a canonical biomarker of POEMS syndrome.
  • Lipid Biomarkers in Rare Diseases
    Lipids are essential components of cell membranes and play significant roles in energy storage, insulation, and signaling. Abnormal levels of lipid substances reflect damage to organs or tissues in the body. As shown in individuals with Fabry disease (FD), glycerophospholipids, acylcarnitines, sphingomyelin and other Lipid molecules show significant distinct levels in plasma. FD has a wide range of symptoms and affects multiple organs, but it is not closely related to genotype. Researchers can further screen these lipids as typical biomarkers of FD to guide the diagnosis.

Our Services

The development of biomarkers provides a guarantee for improving the efficiency and accuracy of rare disease diagnosis. Our company has a mature biomarker development system, providing you with a high-level research team and the first-class equipment to support the development of biomarkers related to rare disease. Our services include but are not limited to:

Biomarker Categories

Biomarker Categories
  • Nucleic Acids
  • Proteins
  • Lipids
  • Metabolites
  • Image Features

Biomarker Development Platforms

Biomarker Development Platforms
  • Flow Cytometry
  • qPCR, FISH
  • MRI, PET

Our Advantages

Standard process and satisfactory speed

Standard process and satisfactory speed

Experiences in first line of rare diseases

Experiences in first line of rare diseases

Effective communication and prompt response

Effective communication and prompt response

Sharing project risks with clients

Sharing project risks with clients

With the participation of multidisciplinary experts and bioinformatics analysis engineers with extensive project experience, our company provides all-in-one biomarker development service to speed up your identification of biomarkers related to rare diseases. If you are interested in our biomarker development service, please feel free to contact us for more information.


  • Tang S, et al. Molecular biomarkers, network biomarkers, and dynamic network biomarkers for diagnosis and prediction of rare diseases. Fundamental Research, 2022, 2 (6):894-902.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

Related Services

Copyright © Protheragen. All rights reserves.