Rare Disease Diagnostics Market by Component, Technology, Disease Type, End-use

Description

List of Tables

[184 Pages Report] The Rare Disease Diagnostics Market size was estimated at USD 2.68 billion in 2023 and expected to reach USD 3.12 billion in 2024, at a CAGR 17.36% to reach USD 8.23 billion by 2030.

Global Rare Disease Diagnostics Market

KEY MARKET STATISTICS
Base Year [2023]	USD 2.68 billion
Estimated Year [2024]	USD 3.12 billion
Forecast Year [2030]	USD 8.23 billion
CAGR (%)	17.36%

FPNV Positioning Matrix

The FPNV Positioning Matrix is pivotal in evaluating the Rare Disease Diagnostics Market. It offers a comprehensive assessment of vendors, examining key metrics related to Business Strategy and Product Satisfaction. This in-depth analysis empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V).

Market Share Analysis

The Market Share Analysis is a comprehensive tool that provides an insightful and in-depth examination of the current state of vendors in the Rare Disease Diagnostics Market. By meticulously comparing and analyzing vendor contributions in terms of overall revenue, customer base, and other key metrics, we can offer companies a greater understanding of their performance and the challenges they face when competing for market share. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With this expanded level of detail, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.

Key Company Profiles

The report delves into recent significant developments in the Rare Disease Diagnostics Market, highlighting leading vendors and their innovative profiles. These include 23andMe Inc., 3billion, Inc., Agilent Technologies Inc., ARCHIMED Life Science GmbH, ARUP Laboratories, AstraZeneca PLC, Azenta Life Sciences, Baylor Genetics, Caris Life Sciences, CENTOGENE N.V., Eurofins Scientific Inc., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, MedGenome Labs Ltd, OPKO Health, Inc., PerkinElmer Inc., Progenity, Inc., Quest Diagnostics Incorporated, Sanofi S.A., Thermo Fisher Scientific Inc., and Travere Therapeutics Inc..

Market Segmentation & Coverage

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

Component
- Consumable & Assay Kit
- Diagnostic Instrument
Technology
- Array Technology
- Next Generation Sequencing
- Sanger Sequencing
Disease Type
- Cancer
- Cardiovascular Disorders
- Dermatology Disease
- Endocrine & Metabolism Diseases
- Hematology Diseases
- Immunological Disorders
- Musculoskeletal Disorders
- Neurological Disorders
End-use
- Diagnostic Laboratories
- Hospitals & Clinics
- Research Laboratories & CROs
Region
- Americas
  - Argentina
  - Brazil
  - Canada
  - Mexico
  - United States
    - California
    - Florida
    - Illinois
    - New York
    - Ohio
    - Pennsylvania
    - Texas
- Asia-Pacific
  - Australia
  - China
  - India
  - Indonesia
  - Japan
  - Malaysia
  - Philippines
  - Singapore
  - South Korea
  - Taiwan
  - Thailand
  - Vietnam
- Europe, Middle East & Africa
  - Denmark
  - Egypt
  - Finland
  - France
  - Germany
  - Israel
  - Italy
  - Netherlands
  - Nigeria
  - Norway
  - Poland
  - Qatar
  - Russia
  - Saudi Arabia
  - South Africa
  - Spain
  - Sweden
  - Switzerland
  - Turkey
  - United Arab Emirates
  - United Kingdom

The report offers valuable insights on the following aspects:

1. Market Penetration: It presents comprehensive information on the market provided by key players.

2. Market Development: It delves deep into lucrative emerging markets and analyzes the penetration across mature market segments.

3. Market Diversification: It provides detailed information on new product launches, untapped geographic regions, recent developments, and investments.

4. Competitive Assessment & Intelligence: It conducts an exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players.

5. Product Development & Innovation: It offers intelligent insights on future technologies, R&D activities, and breakthrough product developments.

The report addresses key questions such as:

1. What is the market size and forecast of the Rare Disease Diagnostics Market?

2. Which products, segments, applications, and areas should one consider investing in over the forecast period in the Rare Disease Diagnostics Market?

3. What are the technology trends and regulatory frameworks in the Rare Disease Diagnostics Market?

4. What is the market share of the leading vendors in the Rare Disease Diagnostics Market?

5. Which modes and strategic moves are suitable for entering the Rare Disease Diagnostics Market?

Product Code: MRR-5C6F41F5B05A

1. Preface

1.1. Objectives of the Study
1.2. Market Segmentation & Coverage
1.3. Years Considered for the Study
1.4. Currency & Pricing
1.5. Language
1.6. Limitations
1.7. Assumptions
1.8. Stakeholders

2. Research Methodology

2.1. Define: Research Objective
2.2. Determine: Research Design
2.3. Prepare: Research Instrument
2.4. Collect: Data Source
2.5. Analyze: Data Interpretation
2.6. Formulate: Data Verification
2.7. Publish: Research Report
2.8. Repeat: Report Update

3. Executive Summary

4. Market Overview

4.1. Introduction
4.2. Rare Disease Diagnostics Market, by Region

5. Market Insights

5.1. Market Dynamics
- 5.1.1. Drivers
  - 5.1.1.1. Growing prevalence of rare genetic diseases and the need for early & rapid diagnosis
  - 5.1.1.2. Rising use in translational & genomic research for the identification of novel mutations
  - 5.1.1.3. Government initiatives for diagnosis and treatment of rare diseases
- 5.1.2. Restraints
  - 5.1.2.1. Stringent regulations associated with the approval process of new rare diseases genetic test
- 5.1.3. Opportunities
  - 5.1.3.1. Advancements in genetic technology to Identify new rare disease genes
  - 5.1.3.2. Favorable investments for diagnosis of rare genetic diseases
- 5.1.4. Challenges
  - 5.1.4.1. Ethical concerns and access to limited information on rare disease
5.2. Market Segmentation Analysis
5.3. Market Trend Analysis
5.4. Cumulative Impact of High Inflation
5.5. Porter's Five Forces Analysis
- 5.5.1. Threat of New Entrants
- 5.5.2. Threat of Substitutes
- 5.5.3. Bargaining Power of Customers
- 5.5.4. Bargaining Power of Suppliers
- 5.5.5. Industry Rivalry
5.6. Value Chain & Critical Path Analysis
5.7. Regulatory Framework

6. Rare Disease Diagnostics Market, by Component

6.1. Introduction
6.2. Consumable & Assay Kit
6.3. Diagnostic Instrument

7. Rare Disease Diagnostics Market, by Technology

7.1. Introduction
7.2. Array Technology
7.3. Next Generation Sequencing
7.4. Sanger Sequencing

8. Rare Disease Diagnostics Market, by Disease Type

8.1. Introduction
8.2. Cancer
8.3. Cardiovascular Disorders
8.4. Dermatology Disease
8.5. Endocrine & Metabolism Diseases
8.6. Hematology Diseases
8.7. Immunological Disorders
8.8. Musculoskeletal Disorders
8.9. Neurological Disorders

9. Rare Disease Diagnostics Market, by End-use

9.1. Introduction
9.2. Diagnostic Laboratories
9.3. Hospitals & Clinics
9.4. Research Laboratories & CROs

10. Americas Rare Disease Diagnostics Market

10.1. Introduction
10.2. Argentina
10.3. Brazil
10.4. Canada
10.5. Mexico
10.6. United States

11. Asia-Pacific Rare Disease Diagnostics Market

11.1. Introduction
11.2. Australia
11.3. China
11.4. India
11.5. Indonesia
11.6. Japan
11.7. Malaysia
11.8. Philippines
11.9. Singapore
11.10. South Korea
11.11. Taiwan
11.12. Thailand
11.13. Vietnam

12. Europe, Middle East & Africa Rare Disease Diagnostics Market

12.1. Introduction
12.2. Denmark
12.3. Egypt
12.4. Finland
12.5. France
12.6. Germany
12.7. Israel
12.8. Italy
12.9. Netherlands
12.10. Nigeria
12.11. Norway
12.12. Poland
12.13. Qatar
12.14. Russia
12.15. Saudi Arabia
12.16. South Africa
12.17. Spain
12.18. Sweden
12.19. Switzerland
12.20. Turkey
12.21. United Arab Emirates
12.22. United Kingdom

13. Competitive Landscape

13.1. FPNV Positioning Matrix
13.2. Market Share Analysis, By Key Player
13.3. Competitive Scenario Analysis, By Key Player

14. Competitive Portfolio

14.1. Key Company Profiles
- 14.1.1. 23andMe Inc.
- 14.1.2. 3billion, Inc.
- 14.1.3. Agilent Technologies Inc.
- 14.1.4. ARCHIMED Life Science GmbH
- 14.1.5. ARUP Laboratories
- 14.1.6. AstraZeneca PLC
- 14.1.7. Azenta Life Sciences
- 14.1.8. Baylor Genetics
- 14.1.9. Caris Life Sciences
- 14.1.10. CENTOGENE N.V.
- 14.1.11. Eurofins Scientific Inc.
- 14.1.12. F. Hoffmann-La Roche Ltd.
- 14.1.13. Fulgent Genetics, Inc.
- 14.1.14. Illumina, Inc.
- 14.1.15. In-Depth Genomics
- 14.1.16. Invitae Corporation
- 14.1.17. Laboratory Corporation of America Holdings
- 14.1.18. MedGenome Labs Ltd
- 14.1.19. OPKO Health, Inc.
- 14.1.20. PerkinElmer Inc.
- 14.1.21. Progenity, Inc.
- 14.1.22. Quest Diagnostics Incorporated
- 14.1.23. Sanofi S.A.
- 14.1.24. Thermo Fisher Scientific Inc.
- 14.1.25. Travere Therapeutics Inc.
14.2. Key Product Portfolio

15. Appendix

15.1. Discussion Guide
15.2. License & Pricing