Rare Disease Diagnostics Market is Expected to Reach USD 34.9 Billion by 2027


The global Rare Disease Diagnostics Market is forecast to grow at a high rate due to government initiatives, growing awareness & knowledge about rare diseases & it's available treatments, and a rise in genetic mutations. The Global Rare Disease Diagnostics Market was valued at USD 19.5 Bn by 2020 and is expected to reach USD 34.9 Bn by 2027, with a growing CAGR of 8.6% during the forecast period.

The driving factors influencing the growth of global rare disease diagnostics market include rising healthcare expenditure, and growing government investments in rare diseases product developments. Moreover, rise in physicians' vocality about rare diseases, rise in patient consultancy services, increase in government campaigns associated with availability of orphan drugs and rise in disposable income fuels the growth of rare disease diagnostics market. Growing advances in technologies in diagnostics, and rising awareness regarding orphan drugs boost the growth of rare disease diagnostics market.

According to the survey, the total number of Americans living with rare disease is ~30 million. This shows the prevalence of rare diseases among American population. However, lack of clinical trials data availability and high changes of misdiagnosis restrain the growth of rare disease diagnostics demand.

This industry is broadly segmented into disease type, technology, testing type, end user, and region. Based on disease type, neurological disorder accounted for the highest market share in 2020 and is expected to increase more during the forecast due to growing prevalence of rare neurological disorders such as Huntington’s. Based on technology type, next generation sequencing held the largest market share in 2020 and is expected to increase more during the forecast period. For instance, in February 2020, Dante Labs took the initiative to offer WGS service to patients with rare diseases at USD 299. This offering includes WGS 30X on Novaseq6000 advanced technology with personalized therapy, precise data interpretation of rare disease.

Based on testing, molecular genetic testing held the largest market share in 2020 due to a growing research activity in genetics. Based on end user, research laboratories & CRO’s accounted for highest market share in 2020 and expected to increase more during forecast period due growing government spending on research. For instance, January 2020, Quest Diagnostic acquired Blueprint Genetics to develop and enhance their expertise in rare diseases and genetic disorders. Geographically, North America accounted for the highest market share in 2020 and expected to increase more during the forecast period.

The covid-19 outbreak has poorly impacted the growth of the market due to sudden decline in number of admissions of rare disease patients. During covid-19 outbreak, priority was given to the covid infected patients. Pharmaceutical companies focused on development of vaccines for covid-19 infection as there was sudden influx of infected patient across the globe. This affected the growth of rare disease diagnostics market share.

Global Rare Disease Diagnostics Market by Region Outlook (Revenue, USD Million, 2021-2027)

  • North America
  • Europe
  • Asia Pacific
  • Latin America
  • Middle East & Africa

Based on region, North America dominated the growth of rare disease diagnostics market due to availability of huge healthcare infrastructure and presence of large volume of rare diseases cases. Moreover, availability of key market players in this region, increasing demand for rare disease diagnostics procedures and increase in R&D activities leverage the growth of rare disease diagnostics market.

However, Asia-Pacific is expected to witness fastest market growth with highest CAGR due to ongoing research on rare diseases and availability of technological advances in diagnostics boost the growth of rare disease diagnostics market.

The Global Rare Disease Diagnostics Market Segmentation:

Global Rare Disease Diagnostics Market by Disease Type Outlook (Revenue, USD Million, 2021-2027)

  • Neurological Disorders
  • Immunological Disorders
  • Hematology Diseases
  • Cancer
  • Cardiovascular Disorders (CVDs)
  • Others

Global Rare Disease Diagnostics Market by Technology Type Outlook (Revenue, USD Million, 2021-2027)

  • Next-Generation Sequencing (NGS)
  • Array Technology
  • PCR-based Testing
  • FISH
  • Sanger Sequencing
  • Others

Global Rare Disease Diagnostics Market by Testing Type Outlook (Revenue, USD Million, 2021-2027)

  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests

Global Rare Disease Diagnostics Market by End User Type Outlook (Revenue, USD Million, 2021-2027)

  • Research Laboratories & CRO’s
  • Diagnostic Laboratories
  • Hospitals & Clinics

Key Findings:

  • Based on disease type, neurological disorder held the largest market share in 2020 and expected to increase more during forecast due growing number of neurological defects constitutes to rare diseases
  • Based on technology, next generation sequencing accounted for highest market share in 2020 due to increase in usage of whole exome sequencing
  • Based on testing, molecular genetic test held maximum market share in 2020 and expected to increase more during forecast period due to advances in technologies associated with clinical testing
  • Based on end user, research laboratories & CRO’s held the highest market share in 2020 due to increase in research and development activities and growing healthcare spending
  • Based on region, North America is expected to dominate the rare disease diagnostics market due to presence of substantial number of key players.

Company Profiles and Competitive Intelligence

The key players operating in the rare disease diagnostics market are:

  • Abbott Laboratories
  • Retrophin, Inc.
  • QIAGEN N.V.
  • Illumina Inc.
  • PerkinElmer, Inc.
  • BGI
  • Partek, Inc.
  • Centogene A.G.
  • Strand Life Sciences Pvt Ltd.
  • Eurofins Scientific
  • Laboratory Corporation of America
  • Quest Diagnostics Inc.
  • Invitae Corporation
  • 3billion, Inc.
  • Arup Laboratories
  • Ambry Genetics
  • Macrogen, Inc.
  • Baylor Genetics
  • Color Genomics, Inc.
  • Health Network Laboratories

Recent News:

  • On February 07, 2020, Dante Labs announced the RareFebruary Initiative offering whole genome sequencing, personalized reports, and data interpretation for all rare disease patients across the globe.
  • In April 2021, AllStripes collaborated with NCATS to transform translational process to develop new treatment procedures for disease that can be delivered to the patients faster. Through this collaboration, AllStripes to deploy its proprietary, participant-centered and real-world evidence platform to launch new rare disease conditions. This collaboration includes a complete understanding of healthcare and utilization of procedures during diagnostic period.

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