Rare Disease Genetic Testing Market worth $3.80 billion by 2030, growing at a CAGR of 16.15% - Exclusive Report by 360iResearch

The "Rare Disease Genetic Testing Market by Disease Type (Cancer, Cardiovascular Disorders, Dermatology Diseases), Technology (Array Technology, FISH, Karyotyping), Specialty, End-User - Global Forecast 2024-2030" report has been added to 360iResearch.com's offering.

The Global Rare Disease Genetic Testing Market to grow from USD 1.33 billion in 2023 to USD 3.80 billion by 2030, at a CAGR of 16.15%.

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Rare disease genetic testing refers to the process of analyzing DNA, RNA, chromosomes, proteins, or certain metabolites to identify genetic mutations or abnormalities that may lead to a rare disease. Since rare diseases are predominantly genetic in origin, such tests are pivotal for early and accurate diagnosis. Advances in genomic technologies have significantly reduced the cost and increased the speed and accuracy of genetic tests. Moreover, there is a growing awareness and understanding of the importance of early and precise diagnosis in managing rare diseases, which has led to a rise in demand for these tests. However, the possibility of uncertain or ambiguous results and issues related to privacy, and the potential for genetic discrimination impact the utility of genetic testing. To address these issues, stringent guidelines and regulations must be enforced to ensure the privacy and ethical conduct of genetic testing. With ongoing scientific advancements, the development of more sophisticated and comprehensive testing methods, such as next-generation sequencing, is on the horizon. Additionally, there is an increasing trend toward consumer-driven healthcare, which may bolster the market for direct-to-consumer genetic testing kits.

The Americas exhibit a robust genetic testing infrastructure and a high awareness level among healthcare providers and patients, bolstered by a strong presence of leading companies and supportive regulatory frameworks. Reimbursement policies and investments in rare disease research contribute to the widespread use and production of genetic tests. The APAC region, while rapidly growing, reveals disparities in access and adoption of rare disease genetic testing. Japan and Australia lead with advancements in technology and increasing government support. Collaborations with global entities shape the production and use in this region, and a growing number of local players are investing in R&D. Meanwhile, the EMEA region presents a diverse landscape; Western Europe mirrors the Americas in terms of technology adoption and production capabilities, with well-established companies driving growth. The EU's regulations, including GDPR, impact genetic data usage, having both positive and negative implications on the market. The Middle East and Africa are nascent markets where awareness is gradually increasing. Genetic testing in these areas is sporadically utilized, primarily facilitated by international aid and partnerships. Companies range from large multinational diagnostics firms to specialized biotechs focused on rare disease genetics in this region.

Market Segmentation & Coverage:

This research report categorizes the Rare Disease Genetic Testing Market in order to forecast the revenues and analyze trends in each of following sub-markets:

Based on Disease Type, market is studied across Cancer, Cardiovascular Disorders, Dermatology Diseases, Endocrine & Metabolism Diseases, Hematology Diseases, Immunological Disorders, Musculoskeletal Disorders, and Neurological Disorders. The Endocrine & Metabolism Diseases commanded largest market share of 14.92% in 2023, followed by Musculoskeletal Disorders.

Based on Technology, market is studied across Array Technology, FISH, Karyotyping, Next Generation Sequencing, PCR - Based Testing, and Sanger Sequencing. The Next Generation Sequencing is further studied across Whole Exome Sequencing and Whole Genome Sequencing. The Next Generation Sequencing commanded largest market share of 29.64% in 2023, followed by PCR - Based Testing.

Based on Specialty, market is studied across Biochemical Genetic Tests, Chromosomal Genetic Tests, and Molecular Genetic Tests. The Biochemical Genetic Tests commanded largest market share of 34.77% in 2023, followed by Molecular Genetic Tests.

Based on End-User, market is studied across Diagnostic Laboratories, Hospitals & Clinics, and Research Laboratories & CROs. The Diagnostic Laboratories commanded largest market share of 41.67% in 2023, followed by Research Laboratories & CROs.

Based on Region, market is studied across Americas, Asia-Pacific, and Europe, Middle East & Africa. The Americas is further studied across Argentina, Brazil, Canada, Mexico, and United States. The United States is further studied across California, Florida, Illinois, New York, Ohio, Pennsylvania, and Texas. The Asia-Pacific is further studied across Australia, China, India, Indonesia, Japan, Malaysia, Philippines, Singapore, South Korea, Taiwan, Thailand, and Vietnam. The Europe, Middle East & Africa is further studied across Denmark, Egypt, Finland, France, Germany, Israel, Italy, Netherlands, Nigeria, Norway, Poland, Qatar, Russia, Saudi Arabia, South Africa, Spain, Sweden, Switzerland, Turkey, United Arab Emirates, and United Kingdom. The Americas commanded largest market share of 39.90% in 2023, followed by Europe, Middle East & Africa.

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FPNV Positioning Matrix:

The FPNV Positioning Matrix is essential for assessing the Rare Disease Genetic Testing Market. It provides a comprehensive evaluation of vendors by examining key metrics within Business Strategy and Product Satisfaction, allowing users to make informed decisions based on their specific needs. This advanced analysis then organizes these vendors into four distinct quadrants, which represent varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital(V).

Market Share Analysis:

The Market Share Analysis offers an insightful look at the current state of vendors in the Rare Disease Genetic Testing Market. By comparing vendor contributions to overall revenue, customer base, and other key metrics, we can give companies a greater understanding of their performance and what they are up against when competing for market share. The analysis also sheds light on just how competitive any given sector is about accumulation, fragmentation dominance, and amalgamation traits over the base year period studied.

Key Company Profiles:

The report delves into recent significant developments in the Rare Disease Genetic Testing Market, highlighting leading vendors and their innovative profiles. These include 3billion, Inc., Ambry Genetics Corporation, Arup Laboratories, Baylor Genetics, Biora Therapeutics, Inc., Blueprint Genetics Oy, Caris Life Sciences, Centogene N.V., Color Health, Inc., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., GeneDx, LLC, Genomelink, Inc., Helix OpCo, LLC, Illumina, Inc., Integrated DNA Technologies, Inc. by Danaher Corporation, Invitae Corporation, Laboratory Corporation Of America Holdings, Macrogen, Inc., Myriad Genetics, Inc., Nonacus Limited, OPKO Health, Inc., PerkinElmer Inc., QIAGEN N.V., Quest Diagnostics Incorporated, Realm IDX, Inc., Sanofi S.A., The Cooper Companies, Inc., Thermo Fisher Scientific Inc., and Variantyx, Inc..

Key Topics Covered:

1. Preface
2. Research Methodology
3. Executive Summary
4. Market Overview
5. Market Insights
6. Rare Disease Genetic Testing Market, by Disease Type
7. Rare Disease Genetic Testing Market, by Technology
8. Rare Disease Genetic Testing Market, by Specialty
9. Rare Disease Genetic Testing Market, by End-User
10. Americas Rare Disease Genetic Testing Market
11. Asia-Pacific Rare Disease Genetic Testing Market
12. Europe, Middle East & Africa Rare Disease Genetic Testing Market
13. Competitive Landscape
14. Competitive Portfolio

The report provides insights on the following pointers:
1. Market Penetration: Provides comprehensive information on the market offered by the key players
2. Market Development: Provides in-depth information about lucrative emerging markets and analyzes penetration across mature segments of the markets
3. Market Diversification: Provides detailed information about new product launches, untapped geographies, recent developments, and investments
4. Competitive Assessment & Intelligence: Provides an exhaustive assessment of market shares, strategies, products, certification, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players
5. Product Development & Innovation: Provides intelligent insights on future technologies, R&D activities, and breakthrough product developments

The report answers questions such as:
1. What is the market size and forecast of the Rare Disease Genetic Testing Market?
2. Which are the products/segments/applications/areas to invest in over the forecast period in the Rare Disease Genetic Testing Market?
3. What is the competitive strategic window for opportunities in the Rare Disease Genetic Testing Market?
4. What are the technology trends and regulatory frameworks in the Rare Disease Genetic Testing Market?
5. What is the market share of the leading vendors in the Rare Disease Genetic Testing Market?
6. What modes and strategic moves are considered suitable for entering the Rare Disease Genetic Testing Market?

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