Global Rare Disease Diagnostics Market is Projected to Hit USD 88,969.27 Million by 2032, With a CAGR of 9.2% From 2024 to 2032- Report by Polaris Market Research (PMR)

The growing awareness of diagnostics and the advancements in genomic technologies are driving the rare disease diagnostics market expansion.

New York, May 23, 2024 (GLOBE NEWSWIRE) -- Market Overview:

The global Rare Disease Diagnostics Market size is projected to grow from USD 40,227.42 million in 2023 to USD 88,969.27 million by 2032, at a compound annual growth rate (CAGR) of 9.2% during the forecast period.

A critical component of healthcare is the identification of rare diseases, which focuses on finding and treating illnesses that only afflict a small portion of the population. A rare disease, sometimes referred to as an orphan disease, is distinguished by a wide variety of symptoms that change not only from condition to condition but also from patient to patient suffering from an identical condition.

Moreover, even if each rare disease is uncommon on its own, millions of people are affected by rare diseases globally, which makes diagnosis and treatment extremely difficult. Complex genetic, biochemical, or environmental variables are frequently involved in many disorders, requiring specialist diagnostic techniques and interdisciplinary management. These disorders can affect a person at any time, whether they are a child, an adult, or both. They can also impact one or more organs or a single system in the body.

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Key Findings from the Report:

  • Industry investment, patient demand, and improved knowledge of the molecular causes of diseases are driving the expansion of the rare disease diagnostics market demand.
  • The market breakdown is primarily based on product type, disease type, technology, sample type, age group, test, end-user, trait type, and region.
  • North America dominated the market with the largest share.

Market Key Players:

  • 3billion, Inc.
  • Agilent Technologies, Inc
  • F. Hoffmann-La Roche Ltd.
  • Illumina, Inc.
  • GeneDx, LLC
  • Invitae Corporation
  • Quest Diagnostics
  • Novo Nordisk A/S

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Rare Disease Diagnostics Market Scope:

Report Attributes Details
Market value in 2024USD 43,872.03 million
Market value in 2032USD 88,969.27 million
CAGR9.2% from 2024 – 2032
Base year2023
Historical data2019-2022
Forecast period2024-2032

Important Market Developments:

Growth Drivers:

Genome technology advancements have spurred diagnostic innovation for rare illness diagnosis, transforming the diagnosis and treatment of many disorders. Genomic testing has become more accessible, allowing medical professionals to treat patients with suspected rare diseases with thorough genetic examinations as the cost of sequencing continues to drop and processing speed increases.


Demand for diagnostic tests targeted at finding uncommon diseases has surged as a result of increased awareness surrounding these conditions. The necessity of early identification and action is becoming increasingly apparent as awareness of uncommon diseases grows among patients, healthcare professionals, and the general public. This trend is shaped by a number of factors that influence the field of rare disease diagnostics market share.


The high expense of diagnosing rare diseases poses a major barrier to prompt and appropriate care for patients and healthcare systems, hampering the rare disease diagnostics market growth.

Regional Insights:

North America: Many reasons, such as their low incidence, nonspecific symptoms, and lack of knowledge among healthcare practitioners, have contributed to the rise of the rare disease diagnostics market in North America.

Asia Pacific: Due to the region's large and diverse population, Asia Pacific faces significant challenges in treating rare diseases, which are made more common by the region's heterogeneous population, complex healthcare environments, lack of agreed-upon definitions, few treatment options, and inadequate funding.

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Segmentation Overview:
By Disease Type Outlook:

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

By Product Type Outlook:

  • Kits & Reagents
  • Instruments
  • Software

By Sample Type Outlook:

  • Blood Sample
  • Buccal Swab Sample
  • Others

By Technology Outlook:

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

By Test Outlook:

  • Genetic Test
  • General Lab Test
  • Imaging Test

By Age Group Outlook:

  • Adult
  • Children

By Trait Type Outlook:

  • Inherited
  • Acquired

By End-Use Outlook

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

By Region Outlook:

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

Browse More Research Reports:
U.S. Rare Disease Diagnostics Market
Europe Rare Disease Diagnostics Market
Laboratory Developed Tests Market
Sepsis Diagnostics Market
Virtual Clinical Trials Market
Rare Disease Genetic Testing Market
Hereditary Testing Market

About Polaris Market Research:

Polaris Market Research is a global market research and consulting company. The company specializes in providing exceptional market intelligence and in-depth business research services for PMR’s clientele spread across different enterprises. We at Polaris are obliged to serve PMR’s diverse customer base present across the industries of healthcare, technology, semiconductors, and chemicals among various other industries present around the world. We strive to provide PMR’s customers with updated information on innovative technologies, high-growth markets, emerging business environments, and the latest business-centric applications, thereby helping them always to make informed decisions and leverage new opportunities. Adept with a highly competent, experienced, and extremely qualified team of experts comprising SMEs, analysts, and consultants, we at Polaris endeavor to deliver value-added business solutions to PMR’s customers.

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