The Rare Disease Genetic Testing Market Report provides an in-depth study of the market environment, analyzing the size, scope, and evolving trends within the ecosystem. It evaluates technological innovations, key growth drivers, and business models shaping market competitiveness. The report incorporates valuable insights into market players’ strengths, weaknesses, and strategic initiatives.

This study delves into multiple industry layers—covering component, application, and regional segmentation—to reveal areas of maximum profitability. It further discusses the challenges affecting adoption and sustainability, helping organizations align their strategies with market realities.

Genetic testing is a type of medical test that detects changes in genes, chromosomes or proteins. A genetic test's results can confirm after suspected genetic condition or they can help determine a person's risk of developing or passing on a genetic disorder. Most tests are used to diagnose rare genetic disorders, such as Duchenne Muscular Dystrophy and Fragile X Syndrome. Genetic tests are performed on a blood sample, amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissue. In case of newborns, genetic screening tests are done on a small blood sample obtained by pricking the baby's heel.

Data Bridge Market Research analyses that the rare disease genetic testing market which was USD 785.8 million in 2021, is expected to reach USD 1982.04 million by 2029, at a CAGR of 12.26% during the forecast period 2022 to 2029. 

Get access to the detailed report here: https://www.databridgemarketresearch.com/reports/global-rare-disease-genetic-testing-market

Genetic testing is a diagnostic tool that not only aids in the identification of specific disease manifestations but also in determining the underlying causes of genetic disorders. Genetic testing has a variety of advantages such as confirming a diagnosis, determining the cause of unexplained symptoms, and identifying treatment options, including clinical trials. Genetic testing refers to a wide range of applications, ranging from family history collection and evaluation to whole genome screening. Each test has its own set of advantages and disadvantages based on the technology used and the indication for the test. A rare disease refers to a condition, disorder or disease that affects a small percentage of the population at any given time. For instance, in the European Union, it affects fewer than 1 in 2,000 individuals, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals.

Global Rare Disease Genetic Testing Market Dynamics

Drivers

• Genetic testing use in research laboratories

Genetic testing is used in the research laboratories for laboratory test to look for variations in an individual's DNA, typically in the context of medical care, ancestry studies, or forensics. A genetic test's results can be used in a medical setting to confirm a suspected genetic disease. Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of ancestry studies, forensics, medical care. These all are the certain factors which propel the growth of market.

• Rise in diagnostic testing

Diagnostic testing is used to identify a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Even though uncovering the genetic cause behind a condition may not directly impact treatment options, it will provide physicians and the families with useful information. For instance, physicians can combine genetic testing with existing clinical and biochemical analyses to accurately confirm a disease diagnosis. These are the factors which boost the market’s growth.

Recent developments

• In December 2020, Cell ID Pte. Ltd., a Singapore-based company that manufactures genetic testing products, will launch the Quiz PCR Biochip, a portable genetic test for COVID-19. This is a portable palm-sized moveable genetic test kit that uses an app to determine whether or not a person has COVID-19. This device also included a QR code for tracking purposes. The device employs pooled screening technology. This is easily portable and can conduct tests at any time
• In January 2022, Exact Sciences, a US-based manufacturer of genetic testing tools and a molecular diagnostics company acquired Prevention Genetics for $190 million. Exact Sciences hopes to increase hereditary cancer testing for more patients as a result of this acquisition

Global Rare Disease Genetic Testing Market Scope

The rare disease genetic testing market is segmented on the basis of disease type, technology, speciality, end-user. The growth amongst these segments will help you analyze meagre growth segments in the industries and provide the users with a valuable market overview and market insights to help them make strategic decisions for identifying core market applications.

Disease Type

• Neurological Disorders
• Immunological Disorders
• Hematology Diseases
• Endocrine
• Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders (CVDs)
• Dermatology Disease
• Others

Technology

• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing
• Whole Genome Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Sanger Sequencing
• Karyotyping

Specialty

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

 End Use

• Research Laboratories
• CROs
• Diagnostic Centers
• Hospitals
• Clinics

Competitive Landscape and Rare Disease Genetic Testing Market Share Analysis

The rare disease genetic testing market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies' focus related to rare disease genetic testing market.

Some of the major players operating in the rare disease genetic testing market are:

• Quest Diagnostics Incorporated (U.S.)
• Centogene N.V. (Germany)
• Strand Life Sciences (Bengaluru)
• Ambry Genetics (U.S.)
• PerkinElmer, Inc. (U.S.)
• Macrogen, Inc. (South Korea)
• Baylor Genetics (U.S.)
• HNL Lab Medicine (U.S.)
• Preventiongenetics (U.S.)
• 3billion, Inc. (South Korea)
• Arup Laboratories (U.S.)
• HNL Lab Medicine (U.S.)
•  Preventiongenetics (U.S.)
• Invitae Corporation (U.S.)
•  Eurofins Scientific (Luxembourg)
•  Strand Life Sciences (India)
•  Realm IDX, Inc. (China)
•  Myriad Genetics, Inc. (U.S.)
•  Laboratory Corporation of America Holdings (U.S.)
•  Opko Health, Inc. (U.S.)

Key Findings
Market Size Estimation and Future Forecast
Market Dynamics: Drivers, Challenges, and Opportunities
Competitive Landscape Overview
Market Segmentation and Regional Growth
Consumer Demand and Buying Trends
Strategic Forecast and Recommendations

Report Outline
Introduction and Methodology
Market Landscape and Dynamics
Segmentation and Sizing
Competitive Insights
Regional and Sectoral Analysis
Opportunities and Outlook

Browse More Reports:
Global Beer Cans Market
Global Bentonite Market
Global Betanin Food Color Market
Global Biliary Atresia Treatment Market
Global Billiard Cues Market
Global Bioactive Fillings Market
Global Bio Based Polytrimethylene Terephthalate (PTT) Market
Global Biofuel Enzyme Market
Global Biofuel Lubricity Improvers Market
Global Biological Dural Repair Market
Global Biopolymer Coatings Market
Global Birth Defects Market
Global Bitcoin Payments Ecosystem Market
Global Bluetooth Hearing Aids Market
Global Body Butter Market
Global Body Shaper Market
Global Bone Healing Implants Market
Global Bone Metastasis Market
Global Bone Spur Market
Global Biaxially-Oriented Polyethylene Terephthalate (BOPET) Packaging Films Market

About Data Bridge Market Research:
An absolute way to forecast what the future holds is to comprehend the trend today! Data Bridge Market Research set forth itself as an unconventional and neoteric market research and consulting firm with an unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge endeavors to provide appropriate solutions to the complex business challenges and initiates an effortless decision-making process. Data Bridge is an aftermath of sheer wisdom and experience which was formulated and framed in the year 2015 in Pune.

Contact Us
Data Bridge Market Research
US: +1 614 591 3140
UK: +44 845 154 9652
APAC: +653 1251 975
Email: [email protected]