The global rare disease genetic testing market is gaining momentum as awareness, technology, and patient registries continue to expand. With rapid advancements in next-generation sequencing (NGS) and strong government support, the market is poised for significant growth in the coming years.

The rare disease genetic testing market was valued at USD 1.15 Billion in 2024 and is projected to grow from USD 1.31 Billion in 2025 to USD 3.77 Billion by 2033, at a robust CAGR of 14.15% (2025–2033).

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A rare disease is a health condition with very low prevalence, often leaving patients and families struggling for years without answers. Genetic testing plays a vital role in pinpointing the root cause of these diseases, offering faster and more accurate diagnosis, reducing unnecessary medical visits, and helping families make informed health and future planning decisions. Early identification also aids in secondary prevention by detecting carriers and asymptomatic individuals.

Key Market Highlights

  • Neurological disease dominates the disease type segment

  • Next-generation sequencing (NGS) leads the technology segment

  • Research laboratories and CROs hold the largest end-user share

  • North America remains the top regional market contributor

Market Growth Drivers

The market is expanding due to two key factors:

  1. Declining sequencing cost and technological advancements: NGS has made rare disease diagnosis more affordable, uncovering complex mutations and enabling rapid, high-precision results. Companies like Centogene are combining genetic testing with proteomics and metabolomics to enhance accuracy.

  2. Expanding patient registries: Registries help pool patient data, boost clinical trial feasibility, and deliver insights for healthcare planning. This structured data approach is accelerating diagnosis, treatment development, and service planning.

Market Challenges

A lack of effective diagnosis frameworks still hinders progress. Around 50% of children undergoing genetic testing in the UK do not receive a confirmed diagnosis. Limited awareness among patients and families about testing also restricts market growth.

Market Opportunities

Government initiatives and regulatory backing are creating opportunities for growth. From funding research consortiums to building rare disease registries, global efforts are strengthening diagnostic capabilities. For example, Spain’s Rare Diseases Registries Research Network (SpainRDR) is a collaborative effort that includes health departments, research institutions, and patient organizations.

Regional Insights

  • North America leads with strong R&D investments, multiple disease registries, and initiatives like the NIH-supported Rare Diseases Clinical Research Network. The region is expected to grow at a CAGR of 8.51%.

  • Europe benefits from companies like Centogene, which diagnoses nearly 150,000–180,000 patients annually. Partnerships, such as IBM Watson with Rhön-Klinikum AG, are enhancing diagnostic accuracy. The region is expected to record a CAGR of 9.1%.

  • Asia-Pacific has the largest patient pool and growing awareness, with organizations in India and other nations driving advocacy and disease management.

  • Latin America faces regulatory gaps but is seeing research projects and efforts from agencies like the Argentina Federation of Rare Diseases.

  • Middle East and Africa hold the smallest share due to low awareness and economic challenges, though global company expansion is expected to boost growth.

Segment Insights

  • Disease Type: Neurological disease leads, expected to grow at a CAGR of 8.3%.

  • Specialty: Molecular genetic tests dominate with a CAGR of 9.41%.

  • Technology: NGS is the leading technology, projected at a CAGR of 10.1%.

  • End-User: Research laboratories and CROs remain the largest contributors with a CAGR of 9.01%.

Key Players in the Rare Disease Genetic Testing Market

  • Quest Diagnostics Inc.

  • Centogene N.V.

  • 3billion Inc.

  • Invitae Corp.

  • Arup Laboratories

  • Eurofins Scientific

  • Ambry Genetics

  • Strand Life Sciences

  • Perkin Elmer, Inc.

  • Health Network Laboratories

  • Opko Health, Inc.

Recent Developments

  • March 2023: MedGenome Laboratories launched India’s first FSHD1 genetic test for early diagnosis.

  • June 2023: Dante Genomics introduced its Rare Disease Health Package powered by whole genome sequencing.

Explore Full Report: Rare Disease Genetic Testing Market Report

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