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11:00 AM - Charmalot 2025
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Oracle Health and Life Sciences Summit 2025
2025-09-09 - 2025-09-11    
12:00 am
The largest gathering of Oracle Health (Formerly Cerner) users. It seems like Oracle Health has learned that it’s not enough for healthcare users to be [...]
MEDITECH Live 2025
2025-09-17 - 2025-09-19    
8:00 am - 4:30 pm
This is the MEDITECH user conference hosted at the amazing MEDITECH conference venue in Foxborough (just outside Boston). We’ll be covering all of the latest [...]
AI Leadership Strategy Summit
2025-09-18 - 2025-09-19    
12:00 am
AI is reshaping healthcare, but for executive leaders, adoption is only part of the equation. Success also requires making informed investments, establishing strong governance, and [...]
OMD Educates: Digital Health Conference 2025
2025-09-18 - 2025-09-19    
7:00 am - 5:00 pm
Why Attend? This is a one-of-a-kind opportunity to get tips from experts and colleagues on how to use your EMR and other innovative health technology [...]
Charmalot 2025
2025-09-19 - 2025-09-21    
11:00 am - 9:00 pm
This is the CharmHealth annual user conference which also includes the CharmHealth Innovation Challenge. We enjoyed the event last year and we’re excited to be [...]
Civitas 2025 Annual Conference
2025-09-28 - 2025-09-30    
8:00 am
Civitas Networks for Health 2025 Annual Conference: From Data to Doing Civitas’ Annual Conference convenes hundreds of industry leaders, decision-makers, and innovators to explore interoperability, [...]
TigerConnect + eVideon Unite Healthcare Communications
2025-09-30    
10:00 am
TigerConnect’s acquisition of eVideon represents a significant step forward in our mission to unify healthcare communications. By combining smart room technology with advanced clinical collaboration [...]
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 [...]
Events on 2025-09-09
Events on 2025-09-17
MEDITECH Live 2025
17 Sep 25
MA
Events on 2025-09-18
OMD Educates: Digital Health Conference 2025
18 Sep 25
Toronto Congress Centre
Events on 2025-09-19
Charmalot 2025
19 Sep 25
CA
Events on 2025-09-28
Civitas 2025 Annual Conference
28 Sep 25
California
Events on 2025-10-05

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