Table of Content

Executive Summary
Scope of the Study
Research Methodology

1 Market
1.1 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 Asia-Pacific
1.2.1.1.1 Japan
1.2.1.1.2 China
1.2.1.1.3 India
1.2.1.1.4 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 Rare Disease Genetic Testing Market (by Region)
2.1 Asia-Pacific Rare Disease Genetic Testing Market
2.1.1 Market Dynamics
2.1.1.1 Impact Analysis
2.1.2 Market Size and Forecast
2.1.2.1 Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.2 Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
2.1.2.3 Asia-Pacific Rare Disease Genetic Testing Market (by Country)
2.1.2.3.1 Japan
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 Japan Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.1.2.2 Japan Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.2 China
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 China Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.2.2.2 China Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.3 Australia
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 Australia Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.3.2.2 Australia Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.4 South Korea
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 South Korea Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.4.2.2 South Korea Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.5 India
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 India Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.5.2.2 India Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.6 Singapore
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 Singapore Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.6.2.2 Singapore Rare Disease Genetic Testing Market (by Technology)
2.1.2.3.7 Rest-of-Asia-Pacific
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-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
2.1.2.3.7.2.2 Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology)

3 Company Profiles
3.1 Overview
3.1.1 3billion, Inc.
3.1.1.1 Company Overview
3.1.1.2 Role of 3billion, Inc. in the Rare Disease Genetic Testing Market
3.1.1.3 Recent Developments
3.1.1.4 Analyst Perspective
3.1.2 Konica Minolta (Ambry Genetics, Inc.)
3.1.2.1 Company Overview
3.1.2.2 Role of Konica Minolta (Ambry Genetics, Inc.) 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 BGI Group
3.1.3.1 Company Overview
3.1.3.2 Role of BGI Group in the Rare Disease Genetic Testing Market
3.1.3.3 Financials
3.1.3.4 Recent Developments
3.1.3.5 Analyst Perspective
3.1.4 Strand Life Science Pvt Ltd.
3.1.4.1 Company Overview
3.1.4.2 Role of Strand Life Science Pvt Ltd. in the Rare Disease Genetic Testing Market
3.1.4.3 Recent Developments
3.1.4.4 Analyst Perspective
List of Figures
Figure 1: Prevalence Rare Disease, 2022
Figure 2: Asia-Pacific Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 3: Rare Disease Genetic Testing Market, Market Dynamics
Figure 4: Most Frequently Studied Rare Diseases, 2021
Figure 5: Asia-Pacific Rare Disease Genetic Testing Market Share (by Technology), 2022 and 2033
Figure 6: Asia-Pacific Rare Disease Genetic Testing Market Share (by Disease Type), 2022 and 2033
Figure 7: Share of Key Developments and Strategies, January 2019-June 2023
Figure 8: Rare Disease Genetic Testing Market: Research Methodology
Figure 9: Primary Research Methodology
Figure 10: Bottom-Up Approach (Segment-Wise Analysis)
Figure 11: Top-Down Approach (Segment-Wise Analysis)
Figure 12: Asia-Pacific Rare Disease Genetic Testing Market Potential, $Billion, 2022-2033
Figure 13: Rare Disease Genetic Testing Market, Patent Analysis (by Country), January 2018- June 2023
Figure 14: Rare Disease Genetic Testing Market, Patent Analysis (by Year), January 2018-June 2023
Figure 15: NIH Funding on Rare Diseases, $Million, 2013-2023
Figure 16: Rare Disease Genetic Testing Market Dynamics
Figure 17: Rare Disease Prevalence in India, 2022
Figure 18: Prevalence of Rare Diseases, 2022
Figure 19: Most Frequently Studied Rare Diseases, 2021
Figure 20: Publications Related to the Use of Artificial Intelligence for Rare Disease Diagnosis, 2015-2022
Figure 21: Rare Disease Genetic Testing Market Share (by Region), 2022-2033
Figure 22: Asia-Pacific Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 23: Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 24: Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 25: Asia-Pacific Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 26: Japan Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 27: Japan Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 28: Japan Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 29: China Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 30: China Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 31: China Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 32: Australia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 33: Australia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 34: Australia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 35: South Korea Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 36: South Korea Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 37: South Korea Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 38: India Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 39: India Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 40: India Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 41: Singapore Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 42: Singapore Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 43: Singapore Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 44: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 45: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 46: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 47: Rare Disease Genetic Testing Market, Total Number of Key Companies Profiled
Figure 48: 3billion, Inc: Product Portfolio
Figure 49: Konica Minolta (Ambry Genetics, Inc.): Product Portfolio
Figure 50: Konica Minolta (Ambry Genetics, Inc.).: Overall Financials, $Million, 2020-2022
Figure 51: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Segment), $Million, 2020-2022
Figure 52: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Region), $Million, 2020-2022
Figure 53: Konica Minolta (Ambry Genetics, Inc.): R&D Expenditure, $Million, 2020-2022
Figure 54: BGI Genomics: Product Portfolio
Figure 55: BGI Genomics.: Overall Financials, $Million, 2020-2022
Figure 56: Strand Life Science Pvt Ltd.: Product Portfolio
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: Asia-Pacific Rare Disease Genetic Testing Market, Impact Analysis