Rare Disease Genetic Testing Market: Trends, Analysis, and Growth Insights

Market Research Report

A quick peek into the report

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
1.3.1.3.4   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

2.1   Competitive Benchmarking
2.1.1   Key Strategies and Developments
2.1.1.1   Funding Activities
2.1.1.2   New Offerings, Product Upgradation, and Approvals
2.1.1.3   Mergers and Acquisitions
2.1.1.4   Partnerships, Collaborations, And Business Expansion
2.1.2   Market Share Analysis
2.1.2.1   Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Products
2.1.2.2   Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Services.
2.1.3   Growth-Share Analysis
2.1.3.1   By Disease Type
2.1.3.2   By Technology Type

3.1   Overview
3.2   Gastroenterology Disease
3.3   Endocrine and Metabolism Disease
3.4   Cardiovascular Disease
3.5   Neurology Disease
3.6   Hematology and Oncology Disease
3.7   Dermatology Disease
3.8   Other Diseases

4.1   Overview
4.2   Products
4.3   Services

5.1   Overview
5.2   Molecular Genetic Tests
5.3   Chromosomal Genetic Tests
5.4   Biochemical Genetic Tests

6.1   Overview
6.2   DNA Sample
6.3   Buccal Swab Sample
6.4   Blood Sample
6.5   Saliva Sample
6.6   Others

7.1   Overview
7.2   Inherited Trait
7.3   Acquired Trait

8.1   Overview
8.2   Polymerase Chain Reaction (PCR)
8.3   Next-Generation Sequencing (NGS)
8.3.1   Whole Genome Sequencing
8.3.2   Whole Exome Sequencing
8.4   Microarrays
8.5   Sanger Sequencing
8.6   Other Technologies

9.1   Overview
9.2   Prenatal
9.3   Neonate and Infant
9.4   Children and Adolescent
9.5   Adult

10.1   Overview
10.2   Hospitals
10.3   Diagnostic Laboratories
10.4   Other End User

11.1   North America Rare Disease Genetic Testing Market
11.1.1   Market Dynamics
11.1.1.1   Impact Analysis
11.1.2   Market Sizing and Forecast
11.1.2.1   North America Rare Disease Genetic Testing Market (by Disease Type)
11.1.2.2   North America Rare Disease Genetic Testing Market (by Technology)
11.1.2.3   North America Rare Disease Genetic Testing Market (by Country)
11.1.2.3.1   U.S.
11.1.2.3.1.1   Market Dynamics
11.1.2.3.1.2   Market Size and Forecast
11.1.2.3.1.2.1   U.S. Rare Disease Genetic Testing Market (by Disease Type)
11.1.2.3.1.2.2   U.S. Rare Disease Genetic Testing Market (by Technology)
11.1.2.3.2   Canada
11.1.2.3.2.1   Market Dynamics
11.1.2.3.2.2   Market Size and Forecast
11.1.2.3.2.2.1   Canada Rare Disease Genetic Testing Market (by Disease Type)
11.1.2.3.2.2.2   Canada Rare Disease Genetic Testing Market (by Technology)
11.2   Europe Rare Disease Genetic Testing Market
11.2.1   Market Dynamics
11.2.1.1   Impact Analysis
11.2.2   Market Sizing and Forecast
11.2.2.1   Europe Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.2   Europe Rare Disease Genetic Testing Market (by Technology)
11.2.2.3   Europe Rare Disease Genetic Testing Market (by Country)
11.2.2.3.1   Germany
11.2.2.3.1.1   Market Dynamics
11.2.2.3.1.2   Market Size and Forecast
11.2.2.3.1.2.1   Germany Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.1.2.2   Germany Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.2   U.K.
11.2.2.3.2.1   Market Dynamics
11.2.2.3.2.2   Market Size and Forecast
11.2.2.3.2.2.1   U.K Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.2.2.2   U.K. Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.3   France
11.2.2.3.3.1   Market Dynamics
11.2.2.3.3.2   Market Size and Forecast
11.2.2.3.3.2.1   France Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.3.2.2   France Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.4   Italy
11.2.2.3.4.1   Market Dynamics
11.2.2.3.4.2   Market Size and Forecast
11.2.2.3.4.2.1   Italy Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.4.2.2   Italy Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.5   Spain
11.2.2.3.5.1   Market Dynamics
11.2.2.3.5.2   Market Size and Forecast
11.2.2.3.5.2.1   Spain Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.5.2.2   Spain Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.6   Russia
11.2.2.3.6.1   Market Dynamics
11.2.2.3.6.2   Market Size and Forecast
11.2.2.3.6.2.1   Russia Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.6.2.2   Russia Rare Disease Genetic Testing Market (by Technology)
11.2.2.3.7   Rest-of-Europe
11.2.2.3.7.1   Market Dynamics
11.2.2.3.7.2   Market Size and Forecast
11.2.2.3.7.2.1   Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type)
11.2.2.3.7.2.2   Rest-of-Europe Rare Disease Genetic Testing Market (by Technology)
11.3   Asia-Pacific Rare Disease Genetic Testing Market
11.3.1   Market Dynamics
11.3.1.1   Impact Analysis
11.3.2   Market Size and Forecast
11.3.2.1   Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.2   Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
11.3.2.3   Asia-Pacific Rare Disease Genetic Testing Market (by Country)
11.3.2.3.1   Japan
11.3.2.3.1.1   Market Dynamics
11.3.2.3.1.2   Market Size and Forecast
11.3.2.3.1.2.1   Japan Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.1.2.2   Japan Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.2   China
11.3.2.3.2.1   Market Dynamics
11.3.2.3.2.2   Market Size and Forecast
11.3.2.3.2.2.1   China Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.2.2.2   China Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.3   Australia
11.3.2.3.3.1   Market Dynamics
11.3.2.3.3.2   Market Size and Forecast
11.3.2.3.3.2.1   Australia Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.3.2.2   Australia Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.4   South Korea
11.3.2.3.4.1   Market Dynamics
11.3.2.3.4.2   Market Size and Forecast
11.3.2.3.4.2.1   South Korea Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.4.2.2   South Korea Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.5   India
11.3.2.3.5.1   Market Dynamics
11.3.2.3.5.2   Market Size and Forecast
11.3.2.3.5.2.1   India Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.5.2.2   India Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.6   Singapore
11.3.2.3.6.1   Market Dynamics
11.3.2.3.6.2   Market Size and Forecast
11.3.2.3.6.2.1   Singapore Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.6.2.2   Singapore Rare Disease Genetic Testing Market (by Technology)
11.3.2.3.7   Rest-of-Asia-Pacific
11.3.2.3.7.1   Market Dynamics
11.3.2.3.7.2   Market Size and Forecast
11.3.2.3.7.2.1   Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
11.3.2.3.7.2.2   Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
11.4   Latin America Rare Disease Genetic Testing Market
11.4.1   Market Dynamics
11.4.1.1   Impact Analysis
11.4.2   Market Size and Forecast
11.4.2.1   Latin America Rare Disease Genetic Testing Market (by Disease Type)
11.4.2.2   Latin America Rare Disease Genetic Testing Market (by Technology)
11.4.2.3   Latin America Rare Disease Genetic Testing Market (by Country)
11.4.2.3.1   Brazil
11.4.2.3.1.1   Market Dynamics
11.4.2.3.1.2   Market Size and Forecast
11.4.2.3.1.2.1   Brazil Rare Disease Genetic Testing Market (by Disease Type)
11.4.2.3.1.2.2   Brazil Rare Disease Genetic Testing Market (by Technology)
11.4.2.3.2   Mexico
11.4.2.3.2.1   Market Dynamics
11.4.2.3.2.2   Market Size and Forecast
11.4.2.3.2.2.1   Mexico Rare Disease Genetic Testing Market (by Disease Type)
11.4.2.3.2.2.2   Mexico Rare Disease Genetic Testing Market (by Technology)
11.4.2.3.3   Rest-of-Latin America
11.4.2.3.3.1   Market Dynamics
11.4.2.3.3.2   Market Size and Forecast
11.4.2.3.3.2.1   Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type)
11.4.2.3.3.2.2   Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology)
11.5   Rest-of-the-World Rare Disease Genetic Testing Market
11.5.1   Market Dynamics
11.5.1.1   Impact Analysis
11.5.2   Market Size and Forecast
11.5.2.1   Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type)
11.5.2.2   Rest-of-the-World Rare Disease Genetic Testing Market (by Technology)

12.1   Overview
12.1.1   23andMe Holding Co.
12.1.1.1   Company Overview
12.1.1.2   Role of 23andMe Holding Co. in the Global Rare Disease Genetic Testing Market
12.1.1.3   Financials
12.1.1.4   Recent Developments
12.1.1.5   Analyst Perspective
12.1.2   3billion, Inc.
12.1.2.1   Company Overview
12.1.2.2   Role of 3billion, Inc. in the Global Rare Disease Genetic Testing Market
12.1.2.3   Recent Developments
12.1.2.4   Analyst Perspective
12.1.3   Agilent Technologies, Inc.
12.1.3.1   Company Overview
12.1.3.2   Role of Agilent Technologies, Inc. in the Global Rare Disease Genetic Testing Market
12.1.3.3   Financials
12.1.3.4   Recent Developments
12.1.3.5   Analyst Perspective
12.1.4   Konica Minolta (Ambry Genetics, Inc.)
12.1.4.1   Company Overview
12.1.4.2   Role of Konica Minolta (Ambry Genetics, Inc.) in the Global Rare Disease Genetic Testing Market
12.1.4.3   Financials
12.1.4.4   Recent Developments
12.1.4.5   Analyst Perspective
12.1.5   BGI Group
12.1.5.1   Company Overview
12.1.5.2   Role of BGI Group in the Global Rare Disease Genetic Testing Market
12.1.5.3   Financials
12.1.5.4   Recent Developments
12.1.5.5   Analyst Perspective
12.1.6   CENTOGENE N.V.
12.1.6.1   Company Overview
12.1.6.2   Role of CENTOGENE N.V. in the Global Rare Disease Genetic Testing Market
12.1.6.3   Financials
12.1.6.4   Recent Developments
12.1.6.5   Analyst Perspective
12.1.7   Eurofins Scientific SE
12.1.7.1   Company Overview
12.1.7.2   Role of Eurofins Scientific SE in the Global Rare Disease Genetic Testing Market
12.1.7.3   Financials
12.1.7.4   Recent Developments
12.1.7.5   Analyst Perspective
12.1.8   GeneDx, Holdings Corp.
12.1.8.1   Company Overview
12.1.8.2   Role of GeneDx, Holdings Corp. in the Global Rare Disease Genetic Testing Market
12.1.8.3   Financials
12.1.8.4   Recent Developments
12.1.8.5   Analyst Perspective
12.1.9   Azenta U.S., Inc. (GENEWIZ, Inc.)
12.1.9.1   Company Overview
12.1.9.2   Role of Azenta U.S., Inc. (GENEWIZ, Inc.) in the Global Rare Disease Genetic Testing Market
12.1.9.3   Financials
12.1.9.4   Recent Developments
12.1.9.5   Analyst Perspective
12.1.10   Illumina, Inc.
12.1.10.1   Company Overview
12.1.10.2   Role of Illumina, Inc. in the Global Rare Disease Genetic Testing Market
12.1.10.3   Financials
12.1.10.4   Recent Developments
12.1.10.5   Analyst Perspective
12.1.11   Invitae Corporation
12.1.11.1   Company Overview
12.1.11.2   Role of Invitae Corporation in the Global Rare Disease Genetic Testing Market
12.1.11.3   Financials
12.1.11.4   Recent Developments
12.1.11.5   Analyst Perspective
12.1.12   Laboratory Corporation of America Holdings
12.1.12.1   Company Overview
12.1.12.2   Role of Laboratory Corporation of America Holdings in the Global Rare Disease Genetic Testing Market
12.1.12.3   Financials
12.1.12.4   Recent Developments
12.1.12.5   Analyst Perspective
12.1.13   Medgenome
12.1.13.1   Company Overview
12.1.13.2   Role of Medgenome in the Global Rare Disease Genetic Testing Market
12.1.13.3   Recent Developments
12.1.13.4   Analyst Perspective
12.1.14   Myriad Genetics, Inc.
12.1.14.1   Company Overview
12.1.14.2   Role of Myriad Genetics, Inc. in the Global Rare Disease Genetic Testing Market
12.1.14.3   Financials
12.1.14.4   Recent Developments
12.1.14.5   Analyst Perspective
12.1.15   OPKO Health, Inc.
12.1.15.1   Company Overview
12.1.15.2   Role of OPKO Health, Inc. in the Global Rare Disease Genetic Testing Market
12.1.15.3   Financials
12.1.15.4   Recent Developments
12.1.15.5   Analyst Perspective
12.1.16   PerkinElmer, Inc.
12.1.16.1   Company Overview
12.1.16.2   Role of PerkinElmer, Inc. in the Global Rare Disease Genetic Testing Market
12.1.16.3   Financials
12.1.16.4   Key Insights about the Financial Health of the Company
12.1.16.5   Recent Developments
12.1.16.6   Analyst Perspective
12.1.17   Exact Sciences Corporation (Prevention Genetics)
12.1.17.1   Company Overview
12.1.17.2   Role of Exact Sciences Corporation (Prevention Genetics) in the Global Rare Disease Genetic Testing Market
12.1.17.3   Financials
12.1.17.4   Recent Developments
12.1.17.5   Analyst Perspective
12.1.18   QIAGEN N.V.
12.1.18.1   Company Overview
12.1.18.2   Role of QIAGEN N.V. in the Global Rare Disease Genetic Testing Market
12.1.18.3   Financials
12.1.18.4   Recent Developments
12.1.18.5   Analyst Perspective
12.1.19   Quest Diagnostics Incorporated
12.1.19.1   Company Overview
12.1.19.2   Role of Quest Diagnostics Incorporated in the Global Rare Disease Genetic Testing Market
12.1.19.3   Financials
12.1.19.4   Analyst Perspective
12.1.20   Strand Life Science Pvt Ltd.
12.1.20.1   Company Overview
12.1.20.2   Role of Strand Life Science Pvt Ltd. in the Global Rare Disease Genetic Testing Market
12.1.20.3   Recent Developments
12.1.20.4   Analyst Perspective

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:   North America Rare Disease Genetic Testing Market, Impact Analysis
Table 6:   Europe Rare Disease Genetic Testing Market, Impact Analysis
Table 7:   Asia-Pacific Rare Disease Genetic Testing Market, Impact Analysis
Table 8:   Latin America Rare Disease Genetic Testing Market, Impact Analysis
Table 9:   Rest-of-the-World Rare Disease Genetic Testing Market, Impact Analysis

Figure 1:   Global Prevalence Rare Disease, 2022
Figure 2:   Global Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 3:   Global Rare Disease Genetic Testing Market, Market Dynamics
Figure 4:   Most Frequently Studied Rare Diseases, 2021
Figure 5:   Global Rare Disease Genetic Testing Market Share (by Technology), 2022 and 2033
Figure 6:   Global Rare Disease Genetic Testing Market Share (by Specialty Type), 2022 and 2033
Figure 7:   Global Rare Disease Genetic Testing Market Share (by Offering), 2022 and 2033
Figure 8:   Global Rare Disease Genetic Testing Market Share (by Disease Type), 2022 and 2033
Figure 9:   Global Rare Disease Genetic Testing Market Share (by Sample Type), 2022 and 2033
Figure 10:   Global Rare Disease Genetic Testing Market Share (by Trait Type), 2022 and 2033
Figure 11:   Global Rare Disease Genetic Testing Market Share (by End User), 2022 and 2033
Figure 12:   Global Rare Disease Genetic Testing Market (by Region), $Billion, 2022 and 2033
Figure 13:   Share of Key Developments and Strategies, January 2019-June 2023
Figure 14:   Global Rare Disease Genetic Testing Market Segmentation
Figure 15:   Global Rare Disease Genetic Testing Market: Research Methodology
Figure 16:   Primary Research Methodology
Figure 17:   Bottom-Up Approach (Segment-Wise Analysis)
Figure 18:   Top-Down Approach (Segment-Wise Analysis)
Figure 19:   Global Rare Disease Genetic Testing Market Potential, $Billion, 2022-2033
Figure 20:   Regulatory Scenario in Europe (by Country)
Figure 21:   Global Rare Disease Genetic Testing Market, Patent Analysis (by Country), January 2018- June 2023
Figure 22:   Global Rare Disease Genetic Testing Market, Patent Analysis (by Year), January 2018-June 2023
Figure 23:   NIH Funding on Rare Diseases, $Million, 2013-2023
Figure 24:   Global Rare Disease Genetic Testing Market Dynamics
Figure 25:   Rare Disease Prevalence in India, 2022
Figure 26:   Global Prevalence of Rare Diseases, 2022
Figure 27:   Most Frequently Studied Rare Diseases, 2021
Figure 28:   Publications Related to the Use of Artificial Intelligence for Rare Disease Diagnosis, 2015-2022
Figure 29:   Global Rare Disease Genetic Testing Market, Number of Key Developments and Strategies, January 2019-June 2023
Figure 30:   Global Rare Disease Genetic Testing Market, Number of Funding Activities, January 2019-June 2023
Figure 31:   Global Rare Disease Genetic Testing Market, Number of New Offerings, Product Upgradation, and Approvals January 2019-June 2023
Figure 32:   Global Rare Disease Genetic Testing Market, Number of Mergers and Acquisitions, January 2019-June 2023
Figure 33:   Global Rare Disease Genetic Testing Market, Number of Partnerships, Collaborations, and Business Expansions, January 2019-June 2023
Figure 34:   Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Products, $Billion, 2022
Figure 35:   Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Services, $Billion, 2022
Figure 36:   Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Disease Type), 2023-2033
Figure 37:   Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Technology Type), 2023-2033
Figure 38:   Global Rare Disease Genetic Testing Market (by Disease Type)
Figure 39:   Global Rare Disease Genetic Testing Market (by Disease Type), $Billion, 2022-2032
Figure 40:   Global Rare Disease Genetic Testing Market (Gastroenterology Disease), $Billion, 2022-2033
Figure 41:   Global Rare Disease Genetic Testing Market (Endocrine and Metabolism Disease), $Billion, 2022-2033
Figure 42:   Global Rare Disease Genetic Testing Market (Cardiovascular Disease), $Billion, 2022-2033
Figure 43:   Global Rare Disease Genetic Testing Market (Neurology Disease), $Billion, 2022-2033
Figure 44:   Global Rare Disease Genetic Testing Market (Hematology and Oncology Disease), $Billion, 2022-2033
Figure 45:   Global Rare Disease Genetic Testing Market (Dermatology Disease), $Billion, 2022-2033
Figure 46:   Global Rare Disease Genetic Testing Market (Other Diseases), $Billion, 2022-2033
Figure 47:   Global Rare Disease Genetic Testing Market (by Offering)
Figure 48:   Global Rare Disease Genetic Testing Market (by Offering), $Billion, 2022-2032
Figure 49:   Global Rare Disease Genetic Testing Market (Products), $Billion, 2022-2033
Figure 50:   Global Rare Disease Genetic Testing Market (Services), $Billion, 2022-2033
Figure 51:   Global Rare Disease Genetic Testing Market (by Specialty Type)
Figure 52:   Global Rare Disease Genetic Testing Market (by Specialty Type), $Billion, 2022-2032
Figure 53:   Global Rare Disease Genetic Testing Market (Molecular Genetic Tests), $Billion, 2022-2033
Figure 54:   Global Rare Disease Genetic Testing Market (Chromosomal Genetic Tests), $Billion, 2022-2033
Figure 55:   Global Rare Disease Genetic Testing Market (Biochemical Genetic Tests), $Billion, 2022-2033
Figure 56:   Global Rare Disease Genetic Testing Market (by Sample Type)
Figure 57:   Global Rare Disease Genetic Testing Market (by Sample Type), $Billion, 2022-2032
Figure 58:   Global Rare Disease Genetic Testing Market (DNA Sample), $Billion, 2022-2033
Figure 59:   Global Rare Disease Genetic Testing Market (Buccal Swab Sample), $Billion, 2022-2033
Figure 60:   Global Rare Disease Genetic Testing Market (Blood Sample), $Billion, 2022-2033
Figure 61:   Global Rare Disease Genetic Testing Market (Saliva Sample), $Billion, 2022-2033
Figure 62:   Global Rare Disease Genetic Testing Market (Others), $Billion, 2022-2033
Figure 63:   Global Rare Disease Genetic Testing Market (by Trait Type)
Figure 64:   Global Rare Disease Genetic Testing Market (by Trait Type), $Billion, 2022-2032
Figure 65:   Global Rare Disease Genetic Testing Market (Inherited Trait), $Billion, 2022-2033
Figure 66:   Global Rare Disease Genetic Testing Market (Acquired Trait), $Billion, 2022-2033
Figure 67:   Global Rare Disease Genetic Testing Market (by Technology)
Figure 68:   Global Rare Disease Genetic Testing Market (by Technology), $Billion, 2022-2032
Figure 69:   Global Rare Disease Genetic Testing Market (Polymerase Chain Reaction (PCR)), $Billion, 2022-2033
Figure 70:   Global Rare Disease Genetic Testing Market (by Next-Generation Sequencing (NGS)), $Billion, 2022-2033
Figure 71:   Global Rare Disease Genetic Testing Market (Whole Genome Sequencing), $Billion, 2022-2033
Figure 72:   Global Rare Disease Genetic Testing Market (Whole Exome Sequencing), $Billion, 2022-2033
Figure 73:   Global Rare Disease Genetic Testing Market (Microarrays), $Billion, 2022-2033
Figure 74:   Global Rare Disease Genetic Testing Market (Sanger Sequencing), $Billion, 2022-2033
Figure 75:   Global Rare Disease Genetic Testing Market (Other Technologies), $Billion, 2022-2033
Figure 76:   Global Rare Disease Genetic Testing Market (by Age Group)
Figure 77:   Global Rare Disease Genetic Testing Market (by Age Group), $Billion, 2022-2032
Figure 78:   Global Rare Disease Genetic Testing Market (Prenatal), $Billion, 2022-2033
Figure 79:   Global Rare Disease Genetic Testing Market (Neonate and Infant), $Billion, 2022-2033
Figure 80:   Global Rare Disease Genetic Testing Market (Children and Adolescent), $Billion, 2022-2033
Figure 81:   Global Rare Disease Genetic Testing Market (Adult), $Billion, 2022-2033
Figure 82:   Global Rare Disease Genetic Testing Market (by End User)
Figure 83:   Global Rare Disease Genetic Testing Market (by End User), $Billion, 2022-2032
Figure 84:   Global Rare Disease Genetic Testing Market (Hospitals), $Billion, 2022-2033
Figure 85:   Global Rare Disease Genetic Testing Market (Diagnostic Laboratories), $Billion, 2022-2033
Figure 86:   Global Rare Disease Genetic Testing Market (Other End User), $Billion, 2022-2033
Figure 87:   Global Rare Disease Genetic Testing Market Share (by Region), 2022-2033
Figure 88:   North America Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 89:   North America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 90:   North America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 91:   North America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 92:   U.S. Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 93:   U.S. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 94:   U.S. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 95:   Canada Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 96:   Canada Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 97:   Canada Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 98:   Europe Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 99:   Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 100:   Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 101:   Europe Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 102:   Germany Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 103:   Germany Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 104:   Germany Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 105:   U.K. Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 106:   U.K. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 107:   U.K. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 108:   France Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 109:   France Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 110:   France Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 111:   Italy Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 112:   Italy Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 113:   Italy Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 114:   Spain Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 115:   Spain Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 116:   Spain Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 117:   Russia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 118:   Russia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 119:   Russia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 120:   Rest-of-Europe Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 121:   Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 122:   Rest-of-Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 123:   Asia-Pacific Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 124:   Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 125:   Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 126:   Asia-Pacific Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 127:   Japan Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 128:   Japan Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 129:   Japan Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 130:   China Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 131:   China Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 132:   China Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 133:   Australia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 134:   Australia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 135:   Australia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 136:   South Korea Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 137:   South Korea Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 138:   South Korea Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 139:   India Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 140:   India Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 141:   India Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 142:   Singapore Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 143:   Singapore Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 144:   Singapore Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 145:   Rest-of-Asia-Pacific Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 146:   Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 147:   Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 148:   Latin America Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 149:   Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 150:   Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 151:   Latin America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 152:   Brazil Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 153:   Brazil Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 154:   Brazil Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 155:   Mexico Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 156:   Mexico Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 157:   Mexico Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 158:   Rest-of-Latin America Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 159:   Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 160:   Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 161:   Rest-of-the-World Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 162:   Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 163:   Rest-of-the-World Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 164:   Global Rare Disease Genetic Testing Market, Total Number of Key Companies Profiled
Figure 165:   23andMe, Inc: Product Portfolio
Figure 166:   23andMe Holding Co.: Overall Financials, $Million, 2020-2022
Figure 167:   23andMe Holding Co.: Net Revenue (by Segment), $Million, 2020-2022
Figure 168:   23andMe Holding Co.: Net Revenue (by Region), $Million, 2020-2022
Figure 169:   23andMe Holding Co.: R&D Expenditure, $Million, 2020-2022
Figure 170:   3billion, Inc: Product Portfolio
Figure 171:   Agilent Technologies, Inc: Product Portfolio
Figure 172:   Agilent Technologies, Inc.: Overall Financials, $Million, 2020-2022
Figure 173:   Agilent Technologies, Inc.: Net Revenue (by Segment), $Million, 2020-2022
Figure 174:   Agilent Technologies, Inc.: Net Revenue (by Region), $Million, 2020-2022
Figure 175:   Agilent Technologies, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 176:   Konica Minolta (Ambry Genetics, Inc.): Product Portfolio
Figure 177:   Konica Minolta (Ambry Genetics, Inc.).: Overall Financials, $Million, 2020-2022
Figure 178:   Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Segment), $Million, 2020-2022
Figure 179:   Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Region), $Million, 2020-2022
Figure 180:   Konica Minolta (Ambry Genetics, Inc.): R&D Expenditure, $Million, 2020-2022
Figure 181:   BGI Genomics: Product Portfolio
Figure 182:   BGI Genomics.: Overall Financials, $Million, 2020-2022
Figure 183:   CENTOGENE N.V.: Product Portfolio
Figure 184:   CENTOGENE N.V.: Overall Financials, $Million, 2020-2022
Figure 185:   CENTOGENE N.V.: Net Revenue (by Segment), $Million, 2020-2022
Figure 186:   CENTOGENE N.V.: Net Revenue (by Region), $Million, 2020-2022
Figure 187:   CENTOGENE N.V.: R&D Expenditure, $Million, 2020-202
Figure 188:   Eurofins Scientific SE: Product Portfolio
Figure 189:   Eurofins Scientific SE: Overall Financials, $Million, 2020-2022
Figure 190:   Eurofins Scientific SE: Net Revenue (by Segment), $Million, 2020-2022
Figure 191:   Eurofins Scientific SE: Net Revenue (by Region), $Million, 2020-2022
Figure 192:   GeneDx, Holdings Corp.: Product Portfolio
Figure 193:   GeneDx, Holdings Corp.: Overall Financials, $Million, 2020-2022
Figure 194:   GeneDx, Holdings Corp.: Net Revenue (by Segment), $Million, 2020-2022
Figure 195:   GeneDx, Holdings Corp.: R&D Expenditure, $Million, 2020-2022
Figure 196:   Azenta U.S., Inc. (GENEWIZ, Inc.): Product Portfolio
Figure 197:   Azenta U.S., Inc. (GENEWIZ, Inc.): Overall Financials, $Million, 2020-2022
Figure 198:   Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Segment), $Million, 2020-2022
Figure 199:   Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Region), $Million, 2020-2022
Figure 200:   Illumina, Inc.: Product Portfolio
Figure 201:   Illumina, Inc.: Overall Financials, $Million, 2020-2022
Figure 202:   Illumina, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 203:   Illumina, Inc.: Revenue (by Region), $Million, 2020-2022
Figure 204:   Illumina, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 205:   Invitae Corporation: Product Portfolio
Figure 206:   Invitae Corporation: Overall Financials, $Million, 2020-2022
Figure 207:   Invitae Corporation: Net Revenue (by Segment), $Million, 2020-2022
Figure 208:   Invitae Corporation: Net Revenue (by Region), $Million, 2020-2022
Figure 209:   Laboratory Corporation of America Holdings: Product Portfolio
Figure 210:   Laboratory Corporation of America Holdings: Overall Financials, $Million, 2020-2022
Figure 211:   Laboratory Corporation of America Holdings: Revenue (by Segment), $Million, 2020-2022
Figure 212:   Laboratory Corporation of America Holdings: Revenue (by Region), $Million, 2020-2022
Figure 213:   Medgenome: Product Portfolio
Figure 214:   Myriad Genetics, Inc.: Product Portfolio
Figure 215:   Myriad Genetics, Inc.: Overall Financials, $Million, 2020-2022
Figure 216:   Myriad Genetics, Inc.: Net Revenue (by Segment), $Million, 2020-2022
Figure 217:   Myriad Genetics, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 218:   OPKO Health, Inc.: Product Portfolio
Figure 219:   OPKO Health, Inc.: Overall Financials, $Million, 2020-2022
Figure 220:   OPKO Health, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 221:   PerkinElmer, Inc.: Product Portfolio
Figure 222:   PerkinElmer, Inc.: Overall Financials, $Million, 2020-2022
Figure 223:   PerkinElmer, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 224:   PerkinElmer, Inc.: Revenue (by Region), $Million, 2020-2022
Figure 225:   PerkinElmer, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 226:   Exact Sciences Corporation (Prevention Genetics): Product Portfolio
Figure 227:   Exact Sciences Corporation: Overall Financials, $Million, 2020-2022
Figure 228:   Exact Sciences Corporation: Revenue (by Segment), $Million, 2020-2022
Figure 229:   Exact Sciences Corporation: Revenue (by Region), $Million, 2020-2022
Figure 230:   Exact Sciences Corporation: R&D Expenditure, $Million, 2020-2022
Figure 231:   QIAGEN N.V.: Product Portfolio
Figure 232:   QIAGEN N.V.: Overall Financials, $Million, 2020-2022
Figure 233:   QIAGEN N.V.: Revenue (by Segment), $Million, 2020-2022
Figure 234:   QIAGEN N.V.: Revenue (by Region), $Million, 2020-2022
Figure 235:   QIAGEN N.V.: R&D Expenditure, $Million, 2020-2022
Figure 236:   Quest Diagnostics Incorporated.: Product Portfolio
Figure 237:   Quest Diagnostics Incorporated: Overall Financials, $Million, 2020-2022
Figure 238:   Quest Diagnostics Incorporated: Revenue (by Segment), $Million, 2020-2022
Figure 239:   Strand Life Science Pvt Ltd.: Product Portfolio

Rare Disease Genetic Testing Market Report Coverage

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

Key Companies Profiled:

•   23andMe Holding Co.
•   3billion, Inc.
•   Agilent Technologies, Inc.
•   Konica Minolta (Ambry Genetics, Inc.)
•   BGI Group
•   CENTOGENE N.V.
•   Eurofins Scientific SE
•   GeneDx, Holdings Corp.
•   Azenta U.S., Inc. (GENEWIZ, Inc.)
•   Illumina, Inc.
•   Invitae Corporation
•   Laboratory Corporation of America Holdings
•   Medgenome
•   Myriad Genetics, Inc.
•   OPKO Health, Inc.
•   PerkinElmer, Inc.
•   Exact Sciences Corporation (Prevention Genetics)
•   QIAGEN N.V.
•   Quest Diagnostics Incorporated
•   Strand Life Science Pvt Ltd.

How Can This Report Add Value to an Organization?

Product/Innovation Strategy: The global rare disease genetic testing market has been extensively segmented on the basis of various categories, such as disease type, specialty type, sample type, end-user, and region. This can help readers understand which segments account for the largest share and which are well-positioned to grow in the coming years.

Growth/Marketing Strategy: Partnerships, collaborations, product launches, and upgrades accounted for the maximum number of key developments, i.e., nearly 86.2% of the total developments in the global rare disease genetic testing market were between January 2021 and June 2023.

Competitive Strategy: The global rare disease genetic testing market has numerous established players paving their way into providing tests, panels, and assays in the market. Key players in the global rare disease genetic testing market analyzed and profiled in the study involve established players offering various disease-specific panels and multiplex instruments.

Rare Disease Genetic Testing Industry and Technology Overview

The global rare disease genetic testing market was valued at $4.11 billion in 2022 and is anticipated to reach $16.69 billion by 2033, witnessing a CAGR of 13.69% during the forecast period 2023-2033. Cutting-edge technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), involve the analysis of an individual's complete genetic code (genome) or specific protein-coding regions (exome), respectively. These methods help identify genetic variations, mutations, or abnormalities responsible for rare diseases.

Market Introduction

Before the advent of NGS (which includes WGS and WES), physicians relied on the Sanger sequencing-based tests, which could detect rare diseases but were extremely time-consuming. Additionally, till all the tests were completed, physicians had to rely on a general diagnostic odyssey or general diagnosis until definitive results were available. This delayed the treatment process. As per BIS research, the global rare disease genetic testing market includes panels and tests that can be used for more rare disease genetic testing. These are predominantly polymerase chain reaction (PCR) and next-generation sequencing (NGS) based tests, panels, and assays. The most common rare disease genetic testing panels include gastroenterology, endocrine and metabolism, and neurology disease, among others.

Industrial Impact

The global rare disease genetic testing market has witnessed significant growth, attributed to the increasing demand for early detection of rare diseases. The increasing prevalence of rare diseases has played a critical role in market growth. Furthermore, growing recognition and emphasis on early detection and prevention of rare diseases in pediatric populations around the world are also expected to influence market growth.

Rare disease genetic testing has immense potential to deliver next-level healthcare solutions. For instance, in January 2023, BGI Genomics, in collaboration with the National Centre for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases, developed the "CardioGen automated interpretation system," which serves as the genotype and phenotype database of monogenic cardiovascular disease. Other factors also impact the market growth, including increased patient demand and low turnaround time of these tests.

Market Segmentation:

Segmentation 1: by Disease Type
•   Gastroenterology Disease
•   Endocrine and Metabolism Disease
•   Cardiovascular Disease
•   Neurology Disease
•   Hematology and Oncology Disease
•   Dermatology Disease
•   Other Diseases

Endocrine and Metabolism Disease Segment to Dominate the Global Rare Disease Genetic Testing Market (by Disease Type)

Based on disease type, the rare disease genetic testing market is led by endocrine and metabolism, which held a 21.88% share in 2022. The burden of endocrine and metabolism diseases often has a high prevalence in the general population, making their diagnosis and management particularly challenging. Their diagnosis addresses genetic testing such as NGS. Further, it also includes biomarker analysis, newborn screening, and molecular diagnostic techniques.

Segmentation 2: Offering
• Products
• Services

Services Segment to Dominate the Global Rare Disease Genetic Testing Market (by Offering)

Based on offerings, the rare disease genetic testing market is led by services, which held an 81.58% share in 2022. Services are specifically tailored to meet the distinct requirements of individuals affected by rare diseases, healthcare professionals, and researchers engaged in this field. The availability of these services complements the use of diagnostic products and facilitates comprehensive and personalized rare disease genetic testing.

Segmentation 3: by Specialty Type
•   Molecular Genetic Tests
•   Chromosomal Genetic Tests
•   Biochemical Genetic Tests

Molecular Genetic Tests Occupying the Largest Share in the Market (by Specialty Type)

Based on specialty type, the rare disease genetic testing market is led by molecular genetic tests, which held a 58.89% share in 2022. The key reason for the increasing popularity of molecular genetic testing is that it provides crucial information for genetic counseling and family planning for individuals and families affected by rare diseases. By identifying specific genetic mutations, families can gain insights into the likelihood of disease inheritance and assess the risk of passing on the condition to future generations. This type of testing is utilized to identify genetic disorders in newborns, allowing for prompt intervention and treatment initiation.

Segmentation 4: by Sample Type
•   DNA Sample
•   Buccal Swab Sample
•   Blood Sample
•   Saliva Sample
•   Others

Blood Sample to Witness the Highest Growth Between 2023 and 2033

Based on sample type, the rare disease genetic testing market is led by blood samples, and it held a 33.99% share in 2022. Blood samples undergo processing to isolate different components, including white blood cells, serum, or plasma. These isolated components are then subjected to further analysis to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Genetic testing methods such as PCR, DNA sequencing, and microarrays can be employed on blood samples to identify specific genetic mutations that are associated with rare diseases.

Segmentation 5: by Trait Type
• Inherited Trait
• Acquired Trait

Inherited Trait to Witness the Highest Growth between 2023 and 2033

Based on trait type, the rare disease genetic testing market is led by inherited traits, which held an 82.59% share in 2022. Inherited traits are characteristics or conditions that are passed down from parents to their offspring through genetic material, i.e., DNA. These traits result from variations or mutations in the genes and can increase the risk of developing certain rare diseases.

Segmentation 6: by Technology
•   Sanger Sequencing
•   PCR
•   NGS
•   Microarrays
•   Others (Targeted Cytogenetics, Karyotyping, and FISH)

NGS to Dominate the Global Rare Disease Genetic Testing Market (by Technology)

Based on technology, the rare disease genetic testing market is led by next-generation sequencing (NGS), and it held a 43.80% share in 2022. NGS technology provides higher sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. This technology also extends its applications to non-invasive prenatal testing, including the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions.

Segmentation 7: by Age Group
•   Prenatal
•   Neonate and Infant
•   Children and Adolescent
•   Adult

Prenatal to Witness the Highest Growth between 2023 and 2033

Based on age group, the rare disease genetic testing market is led by the prenatal age group, which held a 39.68% share in 2022. Prenatal testing and diagnostics play a crucial role in identifying potential rare diseases and congenital abnormalities in the fetus. Prenatal testing methods such as chorionic villus sampling (CVS) and amniocentesis are employed to detect genetic disorders or developmental issues.

Segmentation 8: by End User
•   Hospital
•   Diagnostics Laboratories
•   Other End Users

Hospitals to Dominate the Global Rare Disease Genetic Testing Market (by End User)

Based on end users, the rare disease genetic testing market is led by hospitals, which recorded a 53.12% share in 2022. Hospitals are at the forefront of adopting syndromic testing panels into routine healthcare procedures. Hospitals, particularly in leading regions such as North America and Europe, and also to a certain extent in Asia-Pacific, have incorporated syndromic testing panels and assays to provide superior care to patients.

Segmentation 9: by Region
•   North America - U.S., Canada
•   Europe - Germany, U.K., France, Italy, Russia, Spain, and Rest-of-Europe
•   Asia-Pacific - Japan, India, China, South Korea, Australia, Singapore, and Rest-of-Asia-Pacific
•   Latin America - Brazil, Mexico, and Rest-of-Latin America
•   Rest-of-the-World

Regions such as North America and Europe have technologically advanced industries and allocate considerable budgets to research and development (R&D) activities. Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease diagnostic market.

Recent Developments in the Rare Disease Genetic Testing Market

•   In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to advance bioinformatic solutions for cancer genomic profiling.
•   In April 2023, 3 billion receives accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With the CDPH accreditation, hospitals throughout California will now be able to utilize 3 billion's genetic tests for diagnostic purposes and can claim insurance for the tests.
•   In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa.
•   In January 2023, Premier Research and CENTOGENE formed a strategic partnership to hasten and reduce the risk of clinical development for rare diseases.
•   In February 2023, Illumina delivers the first NovaSeq X Plus sequencer and workflow insights on Illumina Complete Long Reads unveiled at Advances in Genome Biology and Technology (AGBT).
•   In March 2023, Invitae Announces Partnership with Epic to Streamline Genetic Testing. Through Aura, Epic's specialty diagnostics suite, Invitae will streamline interactions with provider organizations in the Epic community, making test result information available in providers' usual workflows so that it's easier to use genetic insights to inform treatment decisions.

Demand – Drivers, Challenges, and Opportunities

Market Demand Drivers:

Rapid Technological Advancements in Rare Disease Diagnosis: Technological advancements, such as next-generation sequencing (NGS), targeted gene panels, and artificial intelligence (AI)-based algorithms, have significantly improved diagnostic accuracy for rare diseases. NGS enables comprehensive genomic analysis, allowing for the identification of disease-causing genetic mutations with higher precision. By identifying the underlying genetic mechanisms and individualizing treatment plans, technological advancements are improving patient outcomes, patient satisfaction, and overall market growth. These advancements have also led to the emergence of new areas of rare disease genetic testing, which have opened up new avenues for research and drug discovery.

Rising Prevalence of Genetic Disorders and Congenital Disorders: The rising prevalence of genetic disorders and congenital disorders has a significant impact on the growth of the global rare disease genetic testing market. Increased demand for diagnostic services, expansion of screening programs, focus on personalized medicine, research and development initiatives, supportive regulatory environment, and patient advocacy all contribute to the expanding market. Furthermore, the rising prevalence led to an expansion of screening programs. Governments and healthcare organizations are implementing newborn screening programs and prenatal genetic testing initiatives to identify these disorders early.

Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Paediatric Populations: Increased consumer demand for early detection and prevention, coupled with a focus on personalized medicine and precision healthcare, is expected to fuel the growth of the global rare disease market. Awareness and education, patient empowerment, expanded screening programs, preventive healthcare strategies, supportive policies, and insurance coverage are all contributing to the expansion of diagnostic services and driving market demand for rare disease genetic testing.

Market Challenges:

Lack of Consolidation of Information Leading to Difficulty in Diagnosis: The lack of consolidation of information and the resulting difficulty in diagnosis poses significant challenges for the global rare disease genetic testing market. Rare diseases often have limited available information, fragmented research findings, and scattered expertise. The vast number of rare diseases, each with its unique set of symptoms and genetic variations, makes it challenging to consolidate comprehensive knowledge and expertise in a centralized manner.

Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts: The significant capital requirement for research and development (R&D) poses a notable challenge for the global rare disease genetic testing market. Research and development in the field of rare diseases often involve extensive genetic studies, clinical trials, and the development of innovative diagnostic tools and therapies. These activities require substantial financial investment, as they involve specialized expertise, laboratory infrastructure, regulatory compliance, and patient recruitment. The high costs associated with R&D act as a barrier, particularly for smaller companies and research institutions with limited resources, hindering their ability to undertake comprehensive research and development efforts. Rare diseases, by definition, affect a small patient population. Hence, the limited commercial market potential for treatments and diagnostics creates challenges in attracting sufficient private investment.

Market Opportunities:

Whole-Genome Sequencing Putting an End to the Rare Disease Diagnostic Odysseys: Whole-genome sequencing (WGS) has the potential to put an end to rare disease genetic testing odysseys and presents significant opportunities for the global rare disease genetic testing market. This technology enables a comprehensive analysis of an individual's entire genome, providing a comprehensive view of the genetic variations and mutations. This approach allows for the detection of both common and rare genetic variants, including those associated with rare diseases.

AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses: AI-based diagnostic tools that utilize machine learning and artificial intelligence algorithms present significant opportunities for the global rare disease market by improving the diagnosis of rare diseases. Artificial intelligence (AI) and machine learning algorithms are revolutionizing rare disease genetic testing by analyzing large datasets, identifying patterns, and making accurate predictions. For instance, in July 2021, Sema4, the parent organization of GeneDx, successfully concluded a transaction with CM Life Sciences, marking its debut as a publicly traded company. The company now operates as an AI-driven genomics and clinical data platform company.

Transitioning toward Increased Genetics Coverage in Reimbursement Policies: Transitioning toward increased genetics coverage in reimbursement policies presents a valuable opportunity for the global rare disease genetic testing market. It improves access to genetic testing, encourages early diagnosis and intervention, supports research and development efforts, stimulates innovation, reduces financial burdens for patients, and aligns with the principles of personalized medicine. These factors collectively contribute to improved diagnostic rates and advancements in rare disease management.

Analyst’s Thoughts

According to Swati Sood, Principal Analyst - BIS Research, “Rapid technological advancements in rare disease genetic testing, rising prevalence of genetic disorders and congenital disorders, and growing recognition and emphasis on early detection and prevention of rare diseases in pediatric populations are expected to contribute to the market growth. The Asia-Pacific rare disease genetic testing market is expected to register significant growth during the forecast period 2023-2033.”

Rare Disease Genetic Testing Market

Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033

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Some Faq's

Frequently Asked Questions

Rare disease diagnostics refers to the process of identifying and determining the underlying cause of rare or uncommon medical conditions that affect a small percentage of the population. This involves a comprehensive evaluation of symptoms, medical history, and specialized testing, including genetic analysis, to accurately diagnose and classify the rare disorder.

According to BIS research, the rare disease genetic testing market refers to the products and services that also broadly include in vitro diagnostics (IVDs) tests and laboratory-developed tests (LDTs) involved in the diagnosis of rare diseases.

Synergistic activities and partnerships, collaborations, and business expansions accounted for the maximum number of key developments, i.e., nearly 45.0% of the total developments in the global rare disease genetic testing market, between January 2019 and June 2023. Key players such as 3billion, Inc, Laboratory Corporation of America Holdings, and Agilent Technologies, Inc. have been involved in partnerships, collaborations, and business expansions for new tests and panels and more advanced types of diagnostic methods and engaging in synergistic partnerships to gain further market share.

The following are the USPs of this report:

•   Vast segmentation of the report, especially the vast number of application types considered
•   Product specifications, product benchmarking, and comparative analysis
•   Market dynamic analysis of the opportunities, trends, and challenges in the market
•   Competitive benchmarking of key players for each product type
•   Growth share analysis for key segments

This report will be useful for firms planning to enter the rare disease genetic testing market and investors who want to invest in the product. Additionally, established market players in this market can also benefit from this report. This is because the report discusses the benefits of using rare disease genetic testing and the latest advancements in the market right now.

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A quick peek into the report

Table of Contents

Rare Disease Genetic Testing Market Report Coverage

How Can This Report Add Value to an Organization?

Rare Disease Genetic Testing Industry and Technology Overview

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Rare Disease Genetic Testing Market

Frequently Asked Questions

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Rare Disease Genetic Testing Market

A quick peek into the report

Table of Contents

1 Market

2 Competitive Insights

3 Global Rare Disease Genetic Testing Market (by disease type), 2022-2033

4 Global Rare Disease Genetic Testing Market (by Offering), 2022-2033

5 Global Rare Disease Genetic Testing Market (by Specialty Type), 2022-2033

6 Global Rare Disease Genetic Testing Market (by Sample Type), 2022-2033

7 Global Rare Disease Genetic Testing Market (by Trait Type), 2022-2033

8 Global Rare Disease Genetic Testing Market (by Technology), 2022-2033

9 Global Rare Disease Genetic Testing Market (by Age Group), 2022-2033

10 Global Rare Disease Genetic Testing Market (by End User), 2022-2033

11 Global Rare Disease Genetic Testing Market (by Region)

12 Company Profiles

List of Tables

List of Figures

Rare Disease Genetic Testing Market Report Coverage

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Rare Disease Genetic Testing Industry and Technology Overview

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Rare Disease Genetic Testing Market

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