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12:00 AM - NextGen UGM 2025
Pathology Visions 2025
2025-10-05 - 2025-10-07    
8:00 am - 5:00 pm
Elevate Patient Care: Discover the Power of DP & AI Pathology Visions unites 800+ digital pathology experts and peers tackling today's challenges and shaping tomorrow's [...]
AHIMA25  Conference
2025-10-12 - 2025-10-14    
9:00 am - 10:00 pm
Register for AHIMA25  Conference Today! HI professionals—Minneapolis is calling! Join us October 12-14 for AHIMA25 Conference, the must-attend HI event of the year. In a city known for its booming [...]
Federal EHR Annual Summit
2025-10-21 - 2025-10-23    
9:00 am - 10:00 pm
The Federal Electronic Health Record Modernization (FEHRM) office brings together clinical staff from the Department of Defense, Department of Veterans Affairs, Department of Homeland Security’s [...]
NextGen UGM 2025
2025-11-02 - 2025-11-05    
12:00 am
NextGen UGM 2025 is set to take place in Nashville, TN, from November 2 to 5 at the Gaylord Opryland Resort & Convention Center. This [...]
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AHIMA25  Conference
12 Oct 25
Minnesota
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NextGen UGM 2025
2 Nov 25
TN

Events

Latest News Press Releases

Rare Disease Genetic Testing Market Size Worth $1.8 Billion by 2027 | CAGR: 10.6%

genetic testing

Rare Disease Genetic Testing Market Size Worth $1.8 Billion by 2027 | CAGR: 10.6%

The global rare disease genetic testing market size is expected to reach USD 1.8 Billion by 2027 according to a new study by Polaris Market Research. The report “Rare Disease Genetic Testing Market Share, Size, Trends, Industry Analysis Report, By Disease Type (Neurological Disorders, Immunological Disorders, Hematology Ailments, Endocrine & Metabolism Disorders, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disorders, Others); By Technology; By Specialty; By End-Use; By Regions; Segment Forecast, 2020 – 2027” gives a detailed insight into current market dynamics and provides analysis on future market growth.

The growing need for on-time diagnosis of uncommon disorders, rising prevalence of rare disorders, innovations in genomic testing, and the focused approach of the market player’s in cost-effective treatments are the key factors responsible for market growth. Moreover, government-sponsored schemes are also expected to positively impact the market. In February 2020, the government of India announced financial assistance of INR 15 lacs to the patients suffering from uncommon ailments under the Rashtriya Arogaya Nidhi scheme for a one-time treatment.

The global rare disease genetic testing industry is fragmented based on disease type, technology, specialty, end-use, and region. In terms of disease type, the market is segmented into neurological disorders, immunological disorders, hematology illnesses, endocrine & metabolism ailments, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology illnesses, and others.

View More Information About Rare Disease Genetic Testing Market : Polaris market

Based on technology, the rare disease genetic testing industry is further bifurcated into next-generation sequencing, array technology, PCR-based testing, FISH, sanger sequencing, and karyotyping. Based on specialty, the rare disease genetic testing industry is further bifurcated into molecular, chromosomal, and biochemical genomic tests. Based on end-use, the rare disease genomic testing industry is further bifurcated into research laboratories & CROs, hospitals & clinics, and diagnostic laboratories.

Segment Highlights

  • Neurological ailments accounted for the largest revenue share in 2019 on account of the increasing prevalence of neurologic disorders across the globe and presence of numerous testing techniques
  • Based on technology, the next generation sequencing segment is projected to constitute almost half of the market in 2027. The usage of the technology in whole genome sequencing is the key factor responsible for its segment’s growth.
  • Molecular tests are expected to account for the highest revenue share by the end of 2027. The availability of advanced technologies and ability to test ultra-rare disorders is expected to drive market growth.
  • Research laboratories & CROs accounted for the largest revenue share in 2019 owing to the increasing number of tests and growing occurrence of rare disorders across the developed economies

List of Key Players

Strand Life Sciences
Myriad Genetics
Quest Diagnostics Inc.
Centogene N.V.
Invitae Corporation
Baylor Genetics
Ambry Genetics
Macrogen, Inc.
Opko Health, Inc.
Color Genomics, Inc.
Health Network Laboratories
Preventiongenetics, Progenity, Inc.
Fulgent Genetics Inc.
Others

ABOUT US –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 our clientele spread across different enterprises. We at Polaris are obliged to serve our diverse customer base present across the industries of healthcare, technology, semiconductor