Table of Content

Executive Summary
Scope of the Study
Research Methodology

1 Market
1.1 Global Market Outlook
1.1.1 Product Definition
1.1.2 Inclusion and Exclusion Criteria
1.1.2.1 Inclusion Criteria
1.1.2.2 Exclusion Criteria
1.1.3 Market Overview
1.1.3.1 Market Footprint
1.1.3.2 Market Size and Future Growth Potential
1.1.4 COVID-19 Impact on the Market
1.1.4.1 Impact on Research and Clinical Operations
1.1.4.2 COVID-19 Impact: Current Scenario of the Market
1.2 Industry Analysis
1.2.1 Regulatory Framework
1.2.1.1 Legal Requirements and Framework in the U.S.
1.2.1.2 Legal Requirements and Framework in Europe
1.2.1.2.1 U.K.
1.2.1.2.2 Spain
1.2.1.3 Legal Requirements and Framework in Asia-Pacific
1.2.1.3.1 Japan
1.2.1.3.2 China
1.2.1.3.3 India
1.2.1.3.4 Taiwan
1.2.2 Patent Analysis
1.2.2.1 Patent Filing Trend (by Country)
1.2.2.2 Patent Filing Trend (by Year)
1.2.3 Funding Scenario
1.3 Market Dynamics
1.3.1 Overview
1.3.2 Market Drivers
1.3.2.1 Rapid Technological Advancements in Rare Disease Diagnosis
1.3.2.2 Rising Prevalence of Genetic Disorders and Congenital Disorders
1.3.2.3 Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Pediatric Populations
1.3.3 Market Challenges
1.3.3.1 Lack of Consolidation of Information Leading to Difficulty in Diagnosis
1.3.3.2 Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts
1.3.4 Market Opportunities
1.3.4.1 Whole Genome Sequencing Putting an End to the Rare Disease Genetic Testing Odysseys
1.3.4.2 AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses
1.3.4.3 Transitioning toward Increased Genetics Coverage in Reimbursement Policies

2 Europe
2.1 Europe Rare Disease Genetic Testing Market
2.1.1 Market Dynamics
2.1.1.1 Impact Analysis
2.1.2 Market Sizing and Forecast
2.1.2.1 Europe Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.2 Europe Rare Disease Genetic Testing Market (by Technology)
2.1.2.3 Europe Rare Disease Genetic Testing Market (by Country)
2.1.2.3.1 Germany
2.1.2.3.1.1 Market Dynamics
2.1.2.3.1.2 Market Size and Forecast
2.1.2.3.1.2.1 Germany Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.1.2.2 Germany Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.2 U.K.
2.1.2.3.2.1 Market Dynamics
2.1.2.3.2.2 Market Size and Forecast
2.1.2.3.2.2.1 U.K Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.2.2.2 U.K. Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.3 France
2.1.2.3.3.1 Market Dynamics
2.1.2.3.3.2 Market Size and Forecast
2.1.2.3.3.2.1 France Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.3.2.2 France Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.4 Italy
2.1.2.3.4.1 Market Dynamics
2.1.2.3.4.2 Market Size and Forecast
2.1.2.3.4.2.1 Italy Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.4.2.2 Italy Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.5 Spain
2.1.2.3.5.1 Market Dynamics
2.1.2.3.5.2 Market Size and Forecast
2.1.2.3.5.2.1 Spain Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.5.2.2 Spain Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.6 Russia
2.1.2.3.6.1 Market Dynamics
2.1.2.3.6.2 Market Size and Forecast
2.1.2.3.6.2.1 Russia Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.6.2.2 Russia Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.7 Rest-of-Europe
2.1.2.3.7.1 Market Dynamics
2.1.2.3.7.2 Market Size and Forecast
2.1.2.3.7.2.1 Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.7.2.2 Rest-of-Europe Rare Disease Genetic Testing Market (by Technology)

3 Company Profiles
3.1 Overview
3.1.1 CENTOGENE N.V.
3.1.1.1 Company Overview
3.1.1.2 Role of CENTOGENE N.V. in the Rare Disease Genetic Testing Market
3.1.1.3 Financials
3.1.1.4 Recent Developments
3.1.1.5 Analyst Perspective
3.1.2 Eurofins Scientific SE
3.1.2.1 Company Overview
3.1.2.2 Role of Eurofins Scientific SE in the Rare Disease Genetic Testing Market
3.1.2.3 Financials
3.1.2.4 Recent Developments
3.1.2.5 Analyst Perspective
3.1.3 QIAGEN N.V.
3.1.3.1 Company Overview
3.1.3.2 Role of QIAGEN N.V. in the Rare Disease Genetic Testing Market
3.1.3.3 Financials
3.1.3.4 Recent Developments
3.1.3.5 Analyst Perspective
List of Figures
Figure 1: Global Prevalence Rare Disease, 2022
Figure 2: Europe Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 3: Europe Rare Disease Genetic Testing Market, Market Dynamics
Figure 4: Most Frequently Studied Rare Diseases, 2021
Figure 5: Europe Rare Disease Genetic Testing Market Share (by Technology), 2022 and 2033
Figure 6: Europe Rare Disease Genetic Testing Market Share (by Disease Type), 2022 and 2033
Figure 7: Rare Disease Genetic Testing Market (by Region), $Billion, 2022 and 2033
Figure 8: Share of Key Developments and Strategies, January 2019-June 2023
Figure 9: Rare Disease Genetic Testing Market: Research Methodology
Figure 10: Primary Research Methodology
Figure 11: Bottom-Up Approach (Segment-Wise Analysis)
Figure 12: Top-Down Approach (Segment-Wise Analysis)
Figure 13: Europe Rare Disease Genetic Testing Market Potential, $Billion, 2022-2033
Figure 14: Regulatory Scenario in Europe (by Country)
Figure 15: Rare Disease Genetic Testing Market, Patent Analysis (by Country), January 2018- June 2023
Figure 16: Rare Disease Genetic Testing Market, Patent Analysis (by Year), January 2018-June 2023
Figure 17: NIH Funding on Rare Diseases, $Million, 2013-2023
Figure 18: Rare Disease Genetic Testing Market Dynamics
Figure 19: Rare Disease Prevalence in India, 2022
Figure 20: Global Prevalence of Rare Diseases, 2022
Figure 21: Most Frequently Studied Rare Diseases, 2021
Figure 22: Publications Related to the Use of Artificial Intelligence for Rare Disease Diagnosis, 2015-2022
Figure 23: Rare Disease Genetic Testing Market Share (by Region), 2022-2033
Figure 24: Europe Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 25: Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 26: Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 27: Europe Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 28: Germany Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 29: Germany Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 30: Germany Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 31: U.K. Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 32: U.K. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 33: U.K. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 34: France Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 35: France Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 36: France Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 37: Italy Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 38: Italy Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 39: Italy Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 40: Spain Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 41: Spain Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 42: Spain Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 43: Russia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 44: Russia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 45: Russia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 46: Rest-of-Europe Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 47: Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 48: Rest-of-Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 49: Rare Disease Genetic Testing Market, Total Number of Key Companies Profiled
Figure 50: CENTOGENE N.V.: Product Portfolio
Figure 51: CENTOGENE N.V.: Overall Financials, $Million, 2020-2022
Figure 52: CENTOGENE N.V.: Net Revenue (by Segment), $Million, 2020-2022
Figure 53: CENTOGENE N.V.: Net Revenue (by Region), $Million, 2020-2022
Figure 54: CENTOGENE N.V.: R&D Expenditure, $Million, 2020-202
Figure 55: Eurofins Scientific SE: Product Portfolio
Figure 56: Eurofins Scientific SE: Overall Financials, $Million, 2020-2022
Figure 57: Eurofins Scientific SE: Net Revenue (by Segment), $Million, 2020-2022
Figure 58: Eurofins Scientific SE: Net Revenue (by Region), $Million, 2020-2022
Figure 59: QIAGEN N.V.: Product Portfolio
Figure 60: QIAGEN N.V.: Overall Financials, $Million, 2020-2022
Figure 61: QIAGEN N.V.: Revenue (by Segment), $Million, 2020-2022
Figure 62: QIAGEN N.V.: Revenue (by Region), $Million, 2020-2022
Figure 63: QIAGEN N.V.: R&D Expenditure, $Million, 2020-2022
List of Tables
Table 1: Key Questions Answered in the Report
Table 2: Funding for Rare Disease Research
Table 3: Technological Advancements in the Rare Disease Genetic Testing Ecosystem
Table 4: Expansion of Medicare Coverage for Rare Disease Genetic Testing Tests (by Companies)
Table 5: Europe Rare Disease Genetic Testing Market, Impact Analysis