U.S. Rare Disease Diagnostics Market Size Worth $28,567.83 Million By 2032 | CAGR: 9.3%

U.S. Rare Disease Diagnostics Market Size Worth $28,567.83 Million By 2032 | CAGR: 9.3%

The U.S. rare disease diagnostics market size is expected to reach USD 28,567.83 million by 2032, according to a new study by Polaris Market Research. The report U.S. Rare Disease Diagnostics Market Share, Size, Trends, Industry Analysis Report, By Disease Type (Gastroenterology Disease, Endocrine and Metabolism Disorders Disease, Cardiovascular Disorders,     Musculoskeletal Disorders, Neurology Disease, Hematology and Oncology Disease, Dermatology Disease, And Others), By Product Type, By Sample Type, By Technology, By Test Type, By Age, By Trait Type, And By End Use; Segment Forecast, 2024 - 2032” gives a detailed insight into current market dynamics and provides analysis on future market growth.

Rare diseases are also called as orphan diseases, affect a small section of the population and often present diagnostic challenges owing to their infrequency and complexity. However, advancements in diagnostic technologies, coupled with increasing awareness and research efforts, have led to significant developments in the field of rare disease diagnostics.

The primary growth drivers of the U.S. rare disease diagnostics market are the expanding scope of genetic testing and molecular diagnostics. Genetic testing plays a crucial role in the diagnosis of rare genetic disorders by identifying underlying genetic mutations and variations associated with these conditions. With the advent of next-generation sequencing (NGS) and other advanced molecular diagnostic techniques, healthcare providers can now conduct comprehensive genetic analyses with higher throughput and accuracy, facilitating the timely and accurate diagnosis of rare diseases.

Furthermore, the growing emphasis on early detection and personalized medicine has propelled the demand for rare disease diagnostics in the United States. Early diagnosis of rare diseases is critical for initiating appropriate treatment interventions and improving patient outcomes. Moreover, the emergence of precision medicine initiatives has underscored the importance of tailored diagnostic approaches based on individual genetic profiles, further driving the adoption of advanced diagnostic technologies for rare diseases.

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In addition to technological advancements, increasing awareness among healthcare professionals, patients, and advocacy groups has contributed to the growth of the rare disease diagnostics market in the United States. Efforts to raise awareness about rare diseases, improve diagnostic capabilities, and expand access to testing services have led to earlier diagnosis and improved management of rare conditions. Additionally, collaborations between diagnostic companies, research institutions, and patient advocacy groups have facilitated research, development, and commercialization of innovative diagnostic solutions for rare diseases.

U.S. Rare Disease Diagnostics Market Report Highlights

  • In 2023, inherited segment held the largest share in the U.S. rare disease diagnostics market. The growing awareness of inherited diseases among healthcare professionals, patients, and the general public. Screening programs for genetic disorders, such as newborn screening and carrier screening, have become more widespread, leading to early detection and diagnosis of inherited diseases. As a result, the demand for inherited diseases diagnostics has increased significantly in recent years.
  • The diagnostic laboratories segment is expected to grow at the fastest CAGR over the forecasted years. As awareness of rare diseases grows and healthcare providers increasingly recognize the importance of early and accurate diagnosis, the demand for specialized testing services provided by diagnostic laboratories is expected to rise significantly.
  • The key market players are Agilent Technologies, Inc., Ambry Genetics, Arup Laboratories, FDNA INC, GeneDx, LLC, Illumina, Inc., Invitae Corporation, Laboratory Corporation of America Holdings, Quest Diagnostics.

Polaris Market Research has segmented the U.S. rare disease diagnostics market report based on disease type, product type, sample type, technology, test type, age, trait type, and end use.

U.S. Rare Disease Diagnostics, Disease Type Outlook (Revenue - USD Million, 2019 - 2032)

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

U.S. Rare Disease Diagnostics, Sample Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Blood Sample
  • Buccal Swab Sample
  • Others

U.S. Rare Disease Diagnostics, Technology Outlook (Revenue - USD Million, 2019 - 2032)

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

U.S. Rare Disease Diagnostics, Test Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Genetic Test
  • General Lab Test
  • Imaging Test

U.S. Rare Disease Diagnostics, Age Outlook (Revenue - USD Million, 2019 - 2032)

  • Children
  • Adult

U.S. Rare Disease Diagnostics, Trait Type Outlook (Revenue - USD Million, 2019 - 2032)

  • Inherited
  • Acquired

U.S. Rare Disease Diagnostics, End Use Outlook (Revenue - USD Million, 2019 - 2032)

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

U.S. Rare Disease Diagnostics Market Report Scope

Report Attributes


Market size value in 2024

USD 14,047.46 Million

Revenue forecast in 2032

USD 28,567.83 Million


9.3% 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

Disease Type, Product Type, Sample Type, Technology, Test Type, Age, Trait Type, And End Use


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