Rare Disease Diagnostics Market
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Global Rare Disease Diagnostics Market Size, Share & Trends Analysis Report By Disease Type, By Product Type, By Application, By Technology, By End Use, And Segment Forecasts, 2024 - 2031

  • Published Date : 2024-09-18
  • Pages : 100
  • Report Id : 40452
  • Categories : Healthcare

This report describes the global market size of Rare Disease Diagnostics from 2019 to 2022 and its CAGR from 2019 to 2023, and also forecasts its market size to the end of 2031 and its expected to grow with a CAGR of 9.21% from 2024 to 2031.

Due to the COVID-19 pandemic and Russia-Ukraine War Influence, the global market for Rare Disease Diagnostics estimated at US $72.2Billion in the year 2022, is projected to reach a revised size of US $ 1,374.15 Billion by 2031, growing at a CAGR of 9.21% during the forecast period 2024-2031.

Rare disease diagnostics involves the process of identifying and confirming conditions that affect a small percentage of the population, often presenting with unique or complex symptoms. These diseases, which may have genetic, environmental, or unknown origins, require specialized diagnostic approaches due to their low prevalence and diverse manifestations. The diagnostic process typically includes a combination of detailed medical history, clinical evaluation, and advanced testing methods such as genetic sequencing, biochemical assays, and imaging studies. Rare disease diagnostics often involves multi-disciplinary teams, including geneticists, neurologists, and other specialists, to interpret complex data and provide accurate diagnoses. Given the rarity and variability of these conditions, diagnostic challenges include differentiating between similar symptoms and ensuring access to the latest technology and expertise. Early and accurate diagnosis is crucial for managing rare diseases, enabling timely interventions and personalized treatment plans. Advances in technology, such as next-generation sequencing and comprehensive genetic panels, have improved diagnostic accuracy and speed, contributing to better patient outcomes and targeted therapeutic strategies.

For geography segment, regional supply, demand, major players, price is presented from 2019 to 2031. This report cover following regions:
North America
Asia-Pacific
Europe
Middle East and Africa
South America


The key countries for each regions are also included such as United States, China, Japan, India, Korea, ASEAN, Germany, France, UK, Italy, Spain, CIS, and Brazil etc.

For competitor segment, the report include global key players of Rare Disease Diagnostics as well as some small players. The information for each competitor include:
Company Profile
Main Business Information
SWOT Analysis
Sales Volume, Revenue, Price and Gross Margin
Market Share

By Technology
Genetic Testing
Next-Generation Sequencing (NGS)
Polymerase Chain Reaction (PCR)
Sanger Sequencing
Biochemical Testing
Enzyme Activity Assays
Metabolite Profiling
Imaging Techniques
Magnetic Resonance Imaging (MRI)
Computed Tomography (CT) Scans
Ultrasound
Microarray
Histopathology

The Rare Disease Diagnostics Market is segmented by technology into various advanced methods. Genetic Testing identifies genetic disorders and predispositions. Next-Generation Sequencing (NGS) provides rapid and detailed
DNA analysis. Polymerase Chain Reaction (PCR) amplifies DNA segments for detailed study. Sanger Sequencing, a traditional method, sequences DNA. Biochemical Testing evaluates chemical processes in the body. Enzyme Activity Assays measure enzyme functions. Metabolite Profiling analyzes metabolic changes. Imaging Techniques include Magnetic Resonance Imaging (MRI) for detailed internal images, Computed Tomography (CT) Scans for cross-sectional body images, and Ultrasound for imaging soft tissues. Microarray analyzes gene expression, while Histopathology examines tissue samples under a microscope. These technologies enable
precise diagnosis and treatment planning for various medical conditions.


By Disease Type
Genetic Disorders
Inherited Metabolic Disorders
Genetic Syndromes
Rare Cancers
Sarcomas
Neuroblastomas
Autoimmune Diseases
Systemic Lupus Erythematosus (SLE)
Vogt-Koyanagi-Harada Disease
Infectious Diseases
Rare Viral Infections
Rare Bacterial Infections
Other


The Rare Disease Diagnostics Market is segmented by disease type, covering a wide range of conditions. Genetic Disorders include various inherited abnormalities, while Inherited Metabolic Disorders affect the body's metabolism. Genetic Syndromes encompass specific inherited conditions. Rare Cancers, such as Sarcomas and Neuroblastomas, involve uncommon malignancies. Autoimmune Diseases, including Systemic Lupus Erythematosus (SLE) and Vogt-Koyanagi-Harada Disease, result from the immune system attacking the body. Infectious Diseases cover Rare Viral and Bacterial Infections. This segmentation highlights the application of neuromodulation technologies in diagnosing and treating diverse and often complex medical conditions.

By Application
Clinical Diagnostics
Prenatal Diagnostics
Newborn Screening
Personalized Medicine

The Rare Disease Diagnostics Market is segmented by application into Clinical Diagnostics, Prenatal Diagnostics, Newborn Screening, and Personalized Medicine. Clinical Diagnostics involves using neuromodulation technologies to diagnose and monitor various diseases and conditions in patients. Prenatal Diagnostics focuses on detecting genetic and metabolic disorders before birth, helping to manage potential risks to the unborn child. Newborn Screening involves testing infants shortly after birth for congenital conditions, enabling early intervention and treatment. Personalized Medicine utilizes neuromodulation to tailor treatments to individual genetic profiles and health conditions, optimizing therapeutic outcomes. This segmentation reflects the broad application of neuromodulation in improving diagnosis, treatment, and management of health conditions across different stages of life.

By Product Type
Reagents and Kits
Test Kits for Genetic Disorders
Biochemical Testing Reagents
Diagnostic Instruments
Sequencers
Spectrophotometers
Software Solutions
Genetic Analysis Software
Biochemical Analysis Software


The Rare Disease Diagnostics Market is segmented by product type into Reagents and Kits, Diagnostic Instruments, and Software Solutions. Reagents and Kits include Test Kits for Genetic Disorders and Biochemical Testing Reagents, used for conducting various diagnostic tests. Diagnostic Instruments consist of Sequencers for DNA analysis and Spectrophotometers for measuring light absorption in biochemical assays. Software Solutions encompass Genetic Analysis Software and Biochemical Analysis Software, which aid in interpreting and managing data from diagnostic tests. This segmentation highlights the diverse range of products essential for conducting and analyzing neuromodulation and related diagnostic procedures, providing comprehensive tools for accurate and effective healthcare solutions.

5. By End-User
Hospitals
Diagnostic Laboratories
Research Institutions
Specialty Clinics

The Rare Disease Diagnostics Market is segmented by end-user into Hospitals, Diagnostic Laboratories, Research Institutions, and Specialty Clinics. Hospitals are key users, providing comprehensive neuromodulation treatments and diagnostic services across various medical conditions. Diagnostic Laboratories focus on analyzing samples and conducting tests to support disease diagnosis and treatment planning. Research Institutions utilize neuromodulation technologies for advancing scientific research and developing new therapeutic approaches. Specialty Clinics, with expertise in specific areas such as neurology or genetic disorders, use neuromodulation for targeted patient care and specialized diagnostics. This segmentation underscores the broad application of neuromodulation technologies across different healthcare and research settings, ensuring specialized and effective management of various conditions.

key Player
Roche Diagnostics
Illumina, Inc
Thermo Fisher Scientific Inc
Qiagen N.V
LabCorp
Genomic Health, Inc
Myriad Genetics, Inc
Beckman Coulter, Inc
Natera, Inc
Orchid Biomedical Systems
Centogene N.V.
Invitae Corporation
GeneDx
Fulgent Genetics
Ambry Genetics




Please ask for sample pages for full companies list

Base Year: 2023
Historical Data: from 2019 to 2023
Forecast Data: from 2024 to 2031

Any special requirements about this report, please let us know and we can provide custom report.


TABLE OF CONTENTS

Market Taxonomy
1. Executive Summary
1.1. Market Overview
1.2. Market Analysis and Recommendations
1.3. RA Analysis and Recommendations
2. Market Introduction
2.1. Market Definition
3. Market Background
3.1. Parent/Associated Market Overview
3.1.1.Rare Disease Diagnostics Outlook
3.1.2.Rare Disease Diagnostics Overview
3.2. Effect of Covid - 19 Impact
3.3. Macro - Economic Overview
3.3.1. GDP Growth
3.3.2. Retail Industry Growth
3.4. Pricing Analysis
3.5. Challenges related to adoption of Rare Disease Diagnostics
3.6. Regulations of Rare Disease Diagnostics
3.7. Forecast Factors: Relevance and Impact
3.8. Market Dynamics
3.8.1. Drivers
3.8.2. Restraints
3.8.3. Opportunity
3.8.4. Trends
3.8.5. SWOT Analysis
4. Market Forecast
4.1. Market Value Projections
4.2. Market Size Projections
4.3. Y - o - Y Projections
4.4. Absolute Opportunity Analysis
5. Global Rare Disease Diagnostics Value Chain Analysis
5.1.Rare Disease Diagnostics Value Chain
5.1.1. List of Raw Disease Type Suppliers
5.1.2. List of Rare Disease Diagnostics Manufacturer
5.1.3. List of Segment
6. Global Rare Disease Diagnostics Analysis by Technology
6.1. Introduction
6.1.1. Market Value Share Analysis By Technology
6.1.2. Y - o - Y Growth Analysis By Technology
6.2. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Technology
6.3. Market Attractiveness Analysis by Technology
7. GlobalRare Disease Diagnostics Analysis By Disease Type
7.1. Introduction
7.1.1. Market Value Share Analysis By Disease Type
7.1.2. Y - o - Y Growth Analysis By Disease Type
7.2. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Disease Type
7.3. Market Attractiveness Analysis By Disease Type
8. Market Structure Analysis
8.1. Market Analysis by Tier of Companies
8.1.1. By Large, Medium, and Small
8.2. Market Concentration
8.2.1. By Top 5 and by Top 10
8.3. Type ion Capacity Share Analysis
8.3.1. By Large, Medium, and Small
8.3.2. By Top 5 and Top 10
8.4. Technology Roadmap
9. Competition Analysis
9.1. Competition Dashboard
9.2. Company Profiles (15 Companies)
9.2.1.Roche Diagnostics
9.2.1.1. Overview
9.2.1.2. Type Portfolio
9.2.1.3. Financial Overview
9.2.2. Illumina, Inc
9.2.2.1. Overview
9.2.2.2. Type Portfolio
9.2.2.3. Financial Overview
9.2.3. Thermo Fisher Scientific Inc
9.2.3.1. Overview
9.2.3.2. Type Portfolio
9.2.3.3. Financial Overview
9.2.4.Qiagen N.V
9.2.4.1. Overview
9.2.4.2. Type Portfolio
9.2.4.3. Financial Overview
9.2.5. LabCorp
9.2.5.1. Overview
9.2.5.2. Type Portfolio
9.2.5.3. Financial Overview
9.2.6. Genomic Health, Inc
9.2.6.1. Overview
9.2.6.2. Type Portfolio
9.2.6.3. Financial Overview
9.2.7.Myriad Genetics, Inc
9.2.7.1. Overview
9.2.7.2. Type Portfolio
9.2.7.3. Financial Overview
9.2.8.Beckman Coulter, Inc
9.2.8.1. Overview
9.2.8.2. Type Portfolio
9.2.8.3. Financial Overview
9.2.9. Natera, Inc
9.2.9.1. Overview
9.2.9.2. Type Portfolio
9.2.9.3. Financial Overview
9.2.10.Orchid Biomedical Systems
9.2.10.1. Overview
9.2.10.2. Type Portfolio
9.2.10.3. Financial Overview
9.2.11.Centogene N.V.
9.2.11.1. Overview
9.2.11.2. Type Portfolio
9.2.11.3. Financial Overview
9.2.12. Invitae Corporation
9.2.12.1. Overview
9.2.12.2. Type Portfolio
9.2.12.3. Financial Overview
9.2.13. GeneDx
9.2.13.1. Overview
9.2.13.2. Type Portfolio
9.2.13.3. Financial Overview
9.2.14.Fulgent Genetics
9.2.14.1. Overview
9.2.14.2. Type Portfolio
9.2.14.3. Financial Overview
9.2.15.Ambry Genetics
9.2.15.1. Overview
9.2.15.2. Type Portfolio
9.2.15.3. Financial Overview
10. Global Rare Disease Diagnostics Analysis By Region
10.1. Introduction
10.1.1. Market Value Share Analysis By Region
10.1.2. Y - o - Y Growth Analysis By Region
10.2. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Region
10.2.1. North America
10.2.2. Middle East and Africa
10.2.3. South America
10.2.4. Asia - Pacific
10.2.5. Others
10.3. Current Market Size (USD Mn) Forecast 2023 - 2030 By Region
10.3.1. North America
10.3.2. Middle East and Africa
10.3.3. South America
10.3.4. Asia - Pacific
10.3.5. Others
10.4. Market Attractiveness Analysis By Region
11. North America Rare Disease Diagnostics Analysis
11.1. Introduction
11.2. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Country
11.2.1. U.S.
11.2.2. Canada
11.2.3. Mexico
11.2.4. Rest of North America
11.3. Current Market Size (USD Mn) Forecast 2023 - 2030 By Country
11.3.1. U.S.
11.3.2. Canada
11.3.3. Mexico
11.3.4. Rest of North America
11.4. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Technology
11.5. Current Market Size (USD Mn) Forecast 2023 - 2030 By Technology
11.6. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Disease Type
11.7. Current Market Size (USD Mn) Forecast 2023 - 2030 By Disease Type
12. South America Rare Disease Diagnostics Analysis
12.1. Introduction
12.2. Regional Pricing Analysis
12.3. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Country
12.3.1. Brazil
12.3.2. Argentina
12.3.3. Rest of South America
12.4. Current Market Size (USD Mn) Forecast 2023 - 2030 By Country
12.4.1. Brazil
12.4.2. Argentina
12.4.3. Rest of South America
12.5. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Technology
12.6. Current Market Size (USD Mn) Forecast 2023 - 2030 By Technology
12.7. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Disease Type
12.8. Current Market Size (USD Mn) Forecast 2023 - 2030 By Disease Type
13. Europe Rare Disease Diagnostics Analysis
13.1. Introduction
13.2. Regional Pricing Analysis
13.3. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Country
13.3.1. Germany
13.3.2. Italy
13.3.3. France
13.3.4. Spain
13.3.5. U.K.
13.3.6. Rest of Europe
13.4. Current Market Size (USD Mn) Forecast 2023 - 2030 By Country
13.4.1. Germany
13.4.2. Italy
13.4.3. France
13.4.4. Spain
13.4.5. U.K.
13.4.6. Rest of Europe
13.5. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Technology
13.6. Current Market Size (USD Mn) Forecast 2023 - 2030 By Technology
13.7. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Disease Type
13.8. Current Market Size (USD Mn) Forecast 2023 - 2030 By Disease Type
14. Middle East and Africa Rare Disease Diagnostics Analysis
14.1. Introduction
14.2. Regional Pricing Analysis
14.3. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Country
14.3.1. Saudi Arabia
14.3.2. U.A.E.
14.3.3. South Africa
14.3.4. Turkey
14.3.5. Rest of Middle East and Africa
14.4. Current Market Size (USD Mn) Forecast 2023 - 2030 By Country
14.4.1. Saudi Arabia
14.4.2. U.A.E.
14.4.3. South Africa
14.4.4. Turkey
14.4.5. Rest of Middle East and Africa
15. Asia - Pacific Rare Disease Diagnostics Analysis
15.1. Introduction
15.2. Regional Pricing Analysis
15.3. Historical Market Size (USD Mn) Analysis 2018 - 2022 By Country
15.3.1. China
15.3.2. India
15.3.3. Japan
15.3.4. South Korea
15.3.5. Singapore
15.3.6. Australia and New Zealand
15.3.7. Rest of Asia - Pacific
15.4. Current Market Size (USD Mn) Forecast 2023 - 2030 By Country
15.4.1. China
15.4.2. India
15.4.3. Japan
15.4.4. South Korea
15.4.5. Singapore
15.4.6. Australia and New Zealand
15.4.7. Rest of Asia - Pacific
i. Research Methodology
ii. Assumptions & Acronyms


LIST OF FIGURES

Figure 01: Global Rare Disease Diagnostics, BPS Analysis,By Technology, 2018(H), 2023(E) & 2030(F)
Figure 02: Global Rare Disease Diagnostics, Y - O - Y Growth,By Technology, 2020(A) - 2030(F)
Figure 03: Global Rare Disease Diagnostics Attractiveness Analysis,By Technology (2020)
Figure 04: Global Rare Disease Diagnostics, BPS Analysis, By Disease Type, 2018(H), 2023(E) & 2030(F)
Figure 05: Global Rare Disease Diagnostics, Y - O - Y Growth, By Disease Type, 2018(H) - 2030(F)
Figure 06: Global Rare Disease Diagnostics Attractiveness Analysis, By Disease Type
Figure 07: Global Rare Disease Diagnostics, Value Analysis,By Technology, 2018(H) - 2030(F)
Figure 08: Global Rare Disease Diagnostics, Value Analysis, by Disease Type , 2018(H) - 2030(F)
Figure 09: Global Rare Disease Diagnostics, BPS Analysis, by Region, 2018(H), 2023(E) & 2030(F)
Figure 10: Global Rare Disease Diagnostics, Y - O - Y Growth, by Region, 2018(H) - 2030(F)
Figure 11: Global Rare Disease Diagnostics Attractiveness Analysis, by Region
Figure 12: North America Rare Disease Diagnostics Value (USD Mn Forecast, 2018 2022
Figure 13: North America Rare Disease Diagnostics Value (USD Mn Forecast, 2023 2030
Figure 14: South America Rare Disease Diagnostics Value (USD Mn) Forecast, 2018 2022
Figure 15: South America Rare Disease Diagnostics Value (USD Mn) Forecast, 2023 2030
Figure 16: Europe Rare Disease Diagnostics Value (USD Mn) Forecast, 2018 2022
Figure 17: Europe Rare Disease Diagnostics Value (USD Mn) Forecast, 2023 2030
Figure 18: Middle East and Africa Rare Disease Diagnostics Value (USD Mn) Forecast, 2018 2022

LIST OF TABLES

Table 01: Global Rare Disease Diagnostics Value (USD Mn) Forecast, By Technology, 2018(H) 2030(F)
Table 02: Global Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type, 2018(H) 2030(F)
Table 03: Global Rare Disease Diagnostics Value (USD Mn) Forecast, By Country, 2018(H) 2030(F)
Table 04: North America Rare Disease Diagnostics Value (USD Mn) Forecast, by Country, 2018(H) 2030(F)
Table 05: North America Rare Disease Diagnostics Value (USD Mn) Forecast,By Technology, 2018(H) 2030(F)
Table 06: North America Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type, 2018(H) 2030(F)
Table 07: South America Rare Disease Diagnostics Value (USD Mn) Forecast, By Country, 2018(H) 2030(F)
Table 08: South America Rare Disease Diagnostics Value (USD Mn) Forecast,By Technology, 2018(H) 2030(F)
Table 09: South America Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type, 2018(H) 2030(F)
Table 10: Europe Rare Disease Diagnostics Value (USD Mn) and Forecast, by Country, 2018(H) 2030(F)
Table 11: Europe Rare Disease Diagnostics Value (USD Mn) Forecast, By Technology, 2018(H) 2030(F)
Table 12: Europe Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type EndUser, 2018(H) 2030(F)
Table 13: Middle East and Africa Rare Disease Diagnostics Value (USD Mn) Forecast, By Country, 2018(H) 2030(F)
Table 14: Middle East and Africa Rare Disease Diagnostics Value (USD Mn) Forecast, By Technology, 2018(H) 2030(F)
Table 15: Middle East and Africa Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type, 2018(H) 2030(F)
Table 16: Asia - Pacific Rare Disease Diagnostics Value (USD Mn) Forecast, by Country, 2018(H) 2030(F)
Table 17: Asia - Pacific Rare Disease Diagnostics Value (USD Mn) Forecast, By Technology, 2018(H) 2030(F)
Table 18: Asia - Pacific Rare Disease Diagnostics Value (USD Mn) Forecast, By Disease Type, 2018(H) 2030(F)

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