Home Biotechnology Rare Biomarkers Specimen Collection and Stabilization Market Size, Global Trends & Insight

Rare Biomarkers Specimen Collection and Stabilization Market Size, Share & Trends Analysis Report By Type (Circulating Cell-Free DNA (ccfDNA), Circulating Tumor Cells (CTCs), Exosomes/Extracellular Vesicles), By Product (Isolation Kits & Reagents, Blood Collection Tubes, Systems), By Application (Non-Invasive Prenatal Testing (NIPT), Oncology, Pharmacogenomics, Transplant Rejection, Cardiovascular Diseases, Others), By End-Users (Hospitals, Perinatal Clinics, Diagnostics Laboratories, Research Institutes, Others) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2025-2033

Report Code: SRBI57007DR
Last Updated : March 17, 2025
Author : Debashree Bora
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Rare Biomarkers Specimen Collection and Stabilization Market Size

The global rare biomarkers specimen collection and stabilization market size was valued at USD 49.17 billion in 2024 and is projected to grow from USD 56.38 billion in 2025 to reach USD 114.42 billion by 2033, growing at a CAGR of 9.2% during the forecast period (2025-2033).

Rare biomarkers specimen collection and stabilization involve obtaining and preserving biological samples containing rare or unique biomarkers, which are critical molecules or indicators used for diagnosing or monitoring specific diseases. These biomarkers are often challenging to detect due to their rarity or low concentration in the body, making the collection process more complex. Specialized techniques are required to ensure these biomarkers remain stable and intact, preventing degradation or alteration during transportation and storage.

Accurate stabilization methods are essential for ensuring reliable results in both research and clinical applications, particularly when working with rare or difficult-to-detect biomarkers. The global market is experiencing significant growth, driven by increasing demand for precision medicine, advancements in clinical diagnostics, and a rising incidence of rare diseases. As biomarker-guided research gains momentum in drug development and diagnostics, maintaining specimen integrity is crucial for downstream processing.

A study published in the NCBI journal in April 2022 highlighted that rare disease biomarker discovery is an active area of research, with efforts focused on expanding the biomarker portfolio for rare diseases with unmet needs. This growing research activity is contributing to the demand for rare biomarker specimens. Moreover, technological advancements in blood, saliva, and tissue sampling, along with improvements in stabilization reagents, are enhancing the accuracy and reproducibility of biomarker analysis.

Latest Market Trends

Automation in specimen handling and preservation

The automation of specimen handling and preservation is transforming the rare biomarkers field by enhancing efficiency, minimizing human error, and ensuring sample integrity. Robotic systems are now streamlining processes such as sample collection, preparation, and storage, significantly improving workflow precision and reliability.

  • For example, a study published in ScienceDirect in September 2023 highlighted the integration of robotic liquid handlers in bioanalytical laboratories, emphasizing their role in increasing throughput and accuracy in sample preparation. The adoption of automated systems not only ensures consistent specimen handling but also enhances reproducibility, which is crucial for the accurate analysis of rare biomarkers.

As automation continues to advance, laboratories and research facilities are increasingly integrating these technologies to optimize operations and improve research outcomes.

Rise of micro-sampling techniques

Micro-sampling techniques, such as dried blood spots (DBS) and volumetric absorptive micro-sampling (VAMS), are revolutionizing the collection of rare biomarker specimens by enabling the acquisition of small, easy-to-handle samples with minimal patient discomfort. These methods reduce the reliance on invasive procedures, making specimen collection more accessible and patient-friendly.

To meet the growing demand for micro-sampling, manufacturers are actively developing innovative technologies.

  • For instance, in November 2022, Neoteryx launched a Research Support Program that provides free Mitra micro-sampling devices to researchers, enabling them to apply remote blood collection and micro-sampling in novel studies.

Such innovations are accelerating the adoption of micro-sampling techniques, further driving market expansion.


Rare Biomarkers Specimen Collection and Stabilization Market Drivers

Advancements in multi-omics research and personalized medicine

The integration of multi-omics technologies—including genomics, proteomics, metabolomics, and transcriptomics—is significantly driving demand for advanced specimen collection and stabilization techniques. These technologies require high-quality biomarker preservation to enable precise, multi-layered data analysis for applications in precision medicine. As a result, manufacturers are increasingly focusing on developing multimodal kits designed to enhance personalized medicine approaches.

  • For instance, in May 2024, QIAGEN launched a new library preparation kit to facilitate multi-omics studies and advance precision medicine. These innovations provide deeper insights into disease mechanisms, improve biomarker-based diagnostics, and accelerate drug discovery.

Consequently, the growing reliance on multi-omics research is reinforcing the need for reliable specimen-handling solutions, propelling the market growth.

Rising investments in biobanking and longitudinal studies

Biobanks play a crucial role in rare biomarker research by supporting longitudinal studies that monitor disease progression over extended periods. The increasing investments in biobanking infrastructure are fueling demand for innovative stabilization technologies that ensure long-term sample viability and reliability.

  • For example, in July 2023, the UK Biobank announced a £14 million investment over five years to expand its rare disease biosample repository. This initiative includes integrating advanced cryopreservation and stabilization technologies to enhance sample preservation for future research.

Such strategic investments highlight the growing importance of robust specimen collection and stabilization solutions in biomarker research.

Market Restraining Factors

Limited standardization across laboratories

While biomarker-based diagnostics have gained prominence, rapid technological advancements have introduced complexities in protocols, procedures, and equipment, leading to inconsistencies in specimen handling. These variations impact biomarker quality and integrity, ultimately compromising the accuracy, reproducibility, and reliability of test results.

  • For example, differences in handling techniques, storage temperatures, and stabilization methods can cause biomarker degradation or contamination, increasing the risk of misdiagnosis or incorrect treatment decisions. Moreover, the lack of uniformity across laboratories makes comparing research findings and clinical outcomes difficult, slowing advancements in precision medicine.

Addressing these standardization challenges is essential to ensuring high-quality biomarker analysis and fostering trust in diagnostic and therapeutic applications.

Market Opportunity

Emergence of digital biomarkers in rare disease R&D

The emergence of digital biomarkers—collected through wearable sensors, mobile applications, and AI-driven analytics—is revolutionizing rare disease R&D. These biomarkers enable continuous, real-time monitoring of physiological and behavioral data, enhancing early disease detection and providing valuable insights into treatment response.

By offering non-invasive, scalable, and patient-centric monitoring solutions, digital biomarkers are reshaping the landscape of rare disease diagnostics and therapeutics.

  • For instance, in October 2022, Koneksa announced its clinical pipeline of validated digital biomarkers aimed at accelerating life sciences research. These biomarkers span multiple therapeutic areas, including neuroscience, oncology, and respiratory diseases, underscoring the growing role of digital technologies in biomarker research.

The successful validation of digital biomarkers presents significant opportunities for companies to expand their portfolios into the digital rare biomarker space.

Study Period 2021-2033 CAGR 9.2%
Historical Period 2021-2023 Forecast Period 2025-2033
Base Year 2024 Base Year Market Size USD 49.17 billion
Forecast Year 2033 Forecast Year Market Size USD 114.42 billion
Largest Market North America Fastest Growing Market Asia Pacific
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Regional Insights

North America: Dominant region with 45.9% market share

North America dominates the global rare biomarkers specimen collection and stabilization market due to its strong biopharmaceutical industry, extensive funding for biomarker research, and advanced healthcare infrastructure. The U.S. leads with high clinical trial activity, government-backed precision medicine initiatives, and significant investments in multi-omics research, driving demand for high-quality specimen stabilization solutions.

Moreover, Canada contributes through its expanding biobanking networks and collaborative efforts in rare disease research, fostering innovation in sample collection. Favorable regulatory policies from agencies like the FDA and NIH funding for biomarker-based diagnostics further strengthen North America's market position.

Asia Pacific: Fastest growing region with the highest market CAGR

Asia-Pacific is poised to be the fastest-growing region in the global rare biomarkers specimen collection and stabilization market, driven by rapid advancements in healthcare infrastructure, increased adoption of cutting-edge diagnostic technologies, and a growing emphasis on personalized medicine. Countries like China and India are making significant investments in healthcare modernization and research, creating a conducive environment for biomarker-based diagnostics. Moreover, the rising prevalence of chronic diseases and cancer, coupled with increasing awareness of early disease detection, is fueling demand for innovative specimen collection and stabilization solutions across the region.

Countries Insights

  • U.S.- The U.S. is a dominant player in the rare biomarker specimen collection and stabilization market, driven by substantial investments in precision medicine and biomarker research. A key initiative is the U.S. Precision Medicine Initiative, supported by the NIH, which in June 2024 allocated $5.6 million to enhance research efforts focused on treating and preventing rare diseases. This initiative focuses on genomic analysis, multi-omics data integration, and the development of innovative specimen-handling technologies.
  • Canada -Canada’s expanding biobank infrastructure supports its growing rare biomarkers market. The Canadian Tissue Repository Network (CTRNet) plays a pivotal role in specimen standardization, enabling high-quality stabilization solutions. In March 2024, Genome Canada allocated USD 1.9 million to biomarker-driven precision medicine projects. Moreover, increasing collaborations with the U.S. and Europe further strengthen Canada’s role in specimen collection and stabilization for rare diseases and cancer diagnostics.
  • Germany– Germany’s rare biomarker specimen collection and stabilization market is a key player, driven by its advanced biobanking infrastructure and stringent regulatory frameworks. In June 2022, the German Biobank Alliance, which integrates leading biobanks for high-quality specimen collection, recently expanded its network by accepting six new biobanks, strengthening the country’s role in rare biomarker research. This expansion enhances standardized specimen processing and long-term stabilization techniques, crucial for multi-omics and precision medicine studies.
  • France - France is emerging as a key market in rare biomarkers specimen collection and stabilization, driven by its national genomic initiatives and focus on precision medicine. The France Genomic Medicine Plan 2025 aims to integrate genomic sequencing into routine healthcare, enhancing the demand for high-quality biomarker stabilization solutions. The French government announced further investments in genomic data infrastructure and rare disease research, strengthening biobanking and specimen collection capabilities.
  • India – India’s rare biomarkers specimen collection and stabilization market is experiencing significant growth, driven by increasing healthcare investments, advancements in medical research, and rising awareness about the importance of early disease detection. Moreover, India has a large and diverse population, which is contributing to an increasing demand for personalized medicine and advanced diagnostic solutions. The rising prevalence of chronic diseases is further driving the need for more accurate and timely biomarkers for early diagnosis and monitoring.
  • Australia – Australia’s rare biomarkers specimen collection and stabilization market is emerging as a key player, driven by its strong focus on decentralized clinical trials and remote specimen collection. The country's vast geography has accelerated the adoption of mobile sample stabilization kits, improving accessibility for rural and remote patients. The Australian Genomics Health Alliance has pioneered efforts in integrating these kits into clinical workflows, enhancing participation in biomarker-based studies.
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Segmentation Analysis

The global rare biomarkers specimen collection and stabilization market is segmented into type, product, application, and end-user.

By Type

The circulating cell-free DNA (ccfDNA) segment leads the market due to its non-invasive nature, high sensitivity in detecting rare genetic mutations and expanding applications in liquid biopsies for cancer, prenatal testing, and transplant monitoring. The continuous integration of ccfDNA in diagnostic test kits further accelerates its adoption.

  • For instance, in July 2024, Guardant Health’s Shield Blood Test received FDA approval as a primary cancer screening tool, utilizing circulating tumor DNA (ctDNA) analysis to enable early cancer detection.

By Product

The isolation kits & reagents segment dominates the global rare biomarkers specimen collection and stabilization market due to their essential role in efficiently extracting high-quality biomolecules, such as DNA, RNA, and proteins, from limited or fragile samples. These products ensure the integrity and purity of rare biomarkers, supporting their application in multi-omics research and clinical diagnostics. The growing demand for advanced reagents and isolation technologies is further driving market expansion.

By Application

The oncology segment holds the highest market share due to the increasing adoption of liquid biopsies, the rising utilization of circulating tumor DNA (ctDNA), and the growing emphasis on early cancer detection and treatment monitoring. The continuous development of precision oncology and targeted therapies fuels the demand for advanced biomarker collection and stabilization techniques, making oncology a key driver of market growth.

By End-User

Research institutes lead the market due to their pivotal role in biomarker discovery, multi-omics research, and large-scale biobanking initiatives. These institutions ensure high-quality sample preservation for precision medicine, rare disease studies, and translational research. Moreover, collaborations with biopharmaceutical companies and government-funded projects further boost demand for advanced specimen collection and stabilization technologies.

Market Size By Type

Market Size By Type
Circulating Cell-Free DNA (ccfDNA) Circulating Tumor Cells (CTCs) Exosomes/Extracellular Vesicles

Analyst Opinion

As per our analysts, the global rare biomarkers specimen collection and stabilization market is on a strong growth trajectory, fueled by advancements in precision medicine, liquid biopsy technologies, and multi-omics research. The increasing adoption of cfDNA analysis and the expansion of biobanking initiatives are driving demand for innovative stabilization techniques that ensure sample integrity and reproducibility.

Moreover, the integration of automation and AI-driven analytics is transforming biomarker discovery, streamlining workflows, and improving the accuracy of rare biomarker analysis. Despite these advancements, the market faces challenges, including the lack of standardization across laboratories, variations in specimen handling protocols, and regulatory complexities that may slow product approvals.

However, companies are actively addressing these hurdles through strategic collaborations, investment in novel stabilization technologies, and the development of digital biomarker solutions. As the need for early disease detection and personalized therapeutics continues to rise, the market is expected to thrive, with key players focusing on innovative, scalable solutions to drive research and clinical applications forward.

Company Market Share

Leading companies in the rare biomarkers specimen collection and stabilization market are actively implementing strategic initiatives to strengthen their market presence. These key strategies include forming collaborations with research institutions and biopharmaceutical firms, securing regulatory approvals for innovative products, expanding their product portfolios through acquisitions, and launching advanced specimen stabilization solutions.

Koneksa Health: An emerging player in the global market

Koneksa Health is an innovative company specializing in digital biomarkers and real-time monitoring solutions for clinical trials and biomarker research. The company leverages advanced data analytics and sensor technology to enhance specimen collection and stabilization by providing continuous, passive health data collection. Koneksa’s solutions are particularly valuable in precision medicine and rare disease research.

Recent developments by Koneksa Health:

  • In March 2024, Koneksa Health announced its collaboration with a leading biopharma company to integrate its digital biomarkers technology into clinical trials for rare disease drug development. This partnership aims to optimize specimen collection processes by improving data accuracy and patient monitoring in real-time, advancing the rare biomarkers specimen stabilization market.

List of key players in Rare Biomarkers Specimen Collection and Stabilization Market

  1. Koneksa Health
  2. QIAGEN
  3. Hoffmann-La Roche Ltd
  4. Thermo Fisher Scientific Inc.
  5. Eurofins Scientific
  6. Bio-Rad Laboratories, Inc.
  7. Agilent Technologies, Inc.
  8. Merck KGaA
  9. Siemens Healthcare Private Limited
  10. BD
  11. Illumina, Inc.
  12. Beckman Coulter, Inc.
  13. Oxford Nanopore Technologies plc.
  14. Guardant Health
  15. Avidity Bioscience
Rare Biomarkers Specimen Collection and Stabilization Market Share of Key Players

Recent Developments

  • October 2024 –Avidity Biosciences, Inc. announced the launch of a biomarker cohort study focused on patients with Facioscapulohumeral Muscular Dystrophy (FSHD). The initiation of this trial is expected to drive an increased demand for specimen collection to support biomarker analysis and disease monitoring.
  • October 2024 – QIAGEN expanded its product portfolio by introducing new automated kits for ccfDNA extraction, including the QIAsymphony DSP Circulating DNA Kit and the Maxi Kit. Designed for both small-scale and high-throughput laboratories, these kits enable high-sensitivity analyses such as NGS and digital PCR.

Rare Biomarkers Specimen Collection and Stabilization Market Segmentations

By Type (2021-2033)

  • Circulating Cell-Free DNA (ccfDNA)
  • Circulating Tumor Cells (CTCs)
  • Exosomes/Extracellular Vesicles

By Product (2021-2033)

  • Isolation Kits & Reagents
  • Blood Collection Tubes
  • Systems

By Application (2021-2033)

  • Non-Invasive Prenatal Testing (NIPT)
  • Oncology
  • Pharmacogenomics
  • Transplant Rejection
  • Cardiovascular Diseases
  • Others

By End-Users (2021-2033)

  • Hospitals
  • Perinatal Clinics
  • Diagnostics Laboratories
  • Research Institutes
  • Others

Frequently Asked Questions (FAQs)

How big is the rare biomarkers specimen collection and stabilization market?
The global rare biomarkers specimen collection and stabilization market size was valued at USD 49.17 billion in 2024 and is projected to reach USD 114.42 billion by 2033, growing at a CAGR of 9.2% from 2025 to 2033.
Advancements in multi-omics research and personalized medicine, increasing investments in biobanking and longitudinal studies are the key drivers for the growth of the rare biomarkers specimen collection and stabilization market.
North America region has the 45.9% of largest share of the rare biomarkers specimen collection and stabilization market.
The key players in the market include Koneksa Health, QIAGEN, Hoffmann-La Roche Ltd, Thermo Fisher Scientific Inc., Eurofins Scientific, Bio-Rad Laboratories, Inc., Agilent Technologies, Inc., Merck KGaA.
Research institutes segment is the leading segment for the market during forecast period.


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