Global Rare Disease Diagnostics Market Size Worth $88,969.27 Million By 2032 | CAGR: 9.2%

Global Rare Disease Diagnostics Market Size Worth $88,969.27 Million By 2032 | CAGR: 9.2%

The global rare disease diagnostics market size is expected to reach USD 88,969.27 million by 2032, according to a new study by Polaris Market Research. The report “Global Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type; By Product Type; By Sample Type; By Technology; By Test; By Age Group; By Trait Type; By End-User; By Region; Segment Forecast, 2024- 2032” gives a detailed insight into current market dynamics and provides analysis on future market growth.

The rare disease diagnostics market is experiencing robust growth, driven by innovation is the increasing accessibility and affordability of genomic sequencing, facilitated by rapid technological advancements and economies of scale. As the cost of sequencing continues to decline and the speed of analysis improves, genomic testing has become more widely available, enabling healthcare providers to offer comprehensive genetic evaluations to patients with suspected rare diseases.

 However, this involves the discovery and validation of novel testing methods, biomarkers, and technologies tailored for identifying rare diseases. Investments in R&D drive innovation, enabling the development of more accurate, efficient, and cost-effective testing solutions. Collaboration between academia, pharmaceutical companies, and biotech firms is crucial in advancing scientific understanding and translating discoveries into practical diagnostic tools.

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The limited market size for treatments and diagnostic tools targeting rare diseases also contributes to their high cost. Advocacy organizations, policymakers, and healthcare stakeholders are working to raise awareness of the economic burden of rare diseases and implement measures to improve access to affordable diagnostic testing and treatments for affected individuals. Additionally, advancements in technology and collaborative research initiatives hold promise for driving down costs and improving the efficiency of rare disease diagnosis in the future.

Global Rare Disease Diagnostics Market Report Highlights

  • The Hematology and Oncology disease segment dominated the market owing to the precise and prompt detection of rare blood and oncological conditions, which led to early intervention and tailored treatment approaches.
  • The Kits and Reagents segment dominated and is anticipated to grow at the fastest CAGR owing to advancements in the detection of rare diseases, which enable quicker and more precise diagnosis.
  • The Research Laboratories and Cros segment dominated the market owing to cutting-edge infrastructure, advanced technologies, and skilled personnel for diagnostic purposes.
  • The Diagnostics Laboratories segment is expected to witness the highest CAGR over the anticipated period due to a rise in demand for specialized diagnostic services that can accurately identify and diagnose rare diseases.
  • North America led the industry and accounted for a majority of market revenue share owing to the progress made in genetic testing and precision medicine, which play crucial roles in diagnosing and treating rare conditions.
  • The global key market players include CENTOGENE N.V., F. Hoffmann-La Roche Ltd., FDNA™ INC, GeneDx, LLC, Illumina, Inc., Invitae Corporation, Novo Nordisk A/S, Quest Diagnostics, etc.

Polaris Market Research has segmented the global rare disease diagnostics market report based on disease type, product type, sample type, technology, test, age group, trait type, end-user, and region:

Global Rare Disease Diagnostics, Disease Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Gastroenterology Disease
  • Endocrine and Metabolism Disorders Disease
  • Cardiovascular Disorders
  • Musculoskeletal Disorders
  • Neurology Disease
  • Hematology and Oncology Disease
  • Dermatology Disease
  • Others

Global Rare Disease Diagnostics, Product Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Kits & Reagents
  • Instruments
  • Software

Global Rare Disease Diagnostics, Sample Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Blood Sample
  • Buccal Swab Sample
  • Others

Global Rare Disease Diagnostics, Technology Outlook (Revenue - USD Billion, 2019 - 2032)

  • Next Generation Sequencing
  • Whole Exome
  • Whole Genome
  • Array Technology
  • PCR Based Testing
  • FISH
  • Sanger Sequencing
  • Karyotyping

Global Rare Disease Diagnostics, Test Outlook (Revenue - USD Million, 2019 - 2032)

  • Genetic Test
  • General Lab Test
  • Imaging Test

Global Rare Disease Diagnostics, Age Group Outlook (Revenue - USD Million, 2019 - 2032)

  • Children
  • Adult

Global Rare Disease Diagnostics, Trait Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Inherited
  • Acquired

Global Rare Disease Diagnostics, End- Use Outlook (Revenue - USD Million, 2019 - 2032)

  • Research Laboratories & Cros
  • Hospitals & Clinics
  • Diagnostic Laboratories

Global Rare Disease Diagnostics, Regional Outlook (Revenue - USD Million, 2019 - 2032)

  • North America
  • U.S.
  • Canada
  • Europe
  • Germany
  • UK
  • France
  • Italy
  • Spain
  • Russia
  • Netherlands
  • Rest of Europe
  • Asia Pacific
  • China
  • India
  • Japan
  • South Korea
  • Indonesia
  • Australia
  • Malaysia
  • Rest of Asia Pacific
  • Latin America
  • Argentina
  • Brazil
  • Mexico
  • Rest of Latin America
  • Middle East & Africa
  • UAE
  • Saudi Arabia
  • Israel
  • South Africa
  • Rest of Middle East & Africa

Global Rare Disease Diagnostics Market Report Scope

Report Attributes


Market size value in 2024

USD 43,872.03 million

Revenue forecast in 2032

USD 88,969.27 million


9.2% from 2024 – 2032

Base year


Historical data

2019 – 2022

Forecast period

2024 – 2032

Quantitative units

Revenue in USD million and CAGR from 2024 to 2032

Segments covered

By Disease Type, By Product Type, By Sample Type, By Technology, By Test, By Age Group, By Trait Type, By End-User, By Region

Regional scope

North America, Europe, Asia Pacific, Latin America; Middle East & Africa


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