The global rare disease genetic testing market size was valued at USD 1,106.88 million in 2024 and is projected to grow from USD 1,242.80 million in 2025 to USD 3,790.38 million by 2034, exhibiting a compound annual growth rate (CAGR) of 13.2% during the forecast period.
Market Drivers
The market is being driven by an increase in awareness and early diagnosis of rare diseases, advancements in next-generation sequencing (NGS) technologies, and growing support from healthcare organizations and governments worldwide. Personalized medicine and expanded newborn screening programs are also contributing to the rising demand for genetic testing.
Market Segmentation
The market is segmented based on test type, technology, sample type, end-user, and region.
- By Test Type: Single gene tests, gene panel tests, exome sequencing, whole genome sequencing
- By Technology: NGS, PCR, microarrays, FISH, others
- By Sample Type: Blood, saliva, buccal swabs, others
- By End-User: Hospitals and clinics, diagnostic laboratories, research institutions
- By Region: North America, Europe, Asia Pacific, Latin America, Middle East & Africa
Key Players
Leading companies in the rare disease genetic testing market include:
- 3billion, Inc.
- Ambry Genetics
- Baylor Genetics
- Blueprint Genetics (Quest Diagnostics)
- Centogene N.V.
- Eurofins Scientific
- GeneDx, LLC
- Genomenon
- Invitae Corporation
- Revvity
Conclusion
As the prevalence of rare genetic disorders continues to rise and technology becomes more accessible, the rare disease genetic testing market is expected to see significant growth over the next decade. Collaborative initiatives between public and private sectors are likely to further accelerate innovation and global adoption.
Hematologic Malignancies Therapeutics Market
Osteoarthritis Market
Parkinson’s Disease Treatment Market
Glaucoma Market
Obesity Treatment Market
Opioid Market
Ovarian Cancer Market
Pancreatic Cancer Market
Rheumatoid Arthritis Market
Blockchain In Healthcare Market
Urinalysis Market
Ultrasound Probe Cover Market
Synthetic Biology Market
Viral Sensitizers Market
Blastic Plasmacytoid Dendritic Cell Neoplasm Market
Cell Culture Market
Anesthesia Devices Market
Vitamin K2 market
Polypropylene Market
Dermatology Drugs Market
Transcatheter Aortic Valve Replacement (Tavr) Market
Hemophilia A Treatment Market
Sepsis Diagnostics Market
Diabetes Drug Market