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Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report by Disease Type (Neurological, CVDs), by Specialty (Molecular, Biochemical), by Technology (NGS, PCR-based), by End Use, and Segment Forecasts, 2022-2030

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    Report

  • 150 Pages
  • August 2022
  • Region: Global
  • Grand View Research
  • ID: 5649406
Description Jump to:
The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report. Effective regulatory plans to combat rare disease is one of the key drivers of the industry. Furthermore, the presence of a substantial number of registries that provide data and relevant information about related diseases has aided in revenue growth over the past years. Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and other countries, participate in various activities that are aimed at raising awareness in this area.

Moreover, the Canadian Organization for Rare Disorders (CORD) offers a strong platform to streamline health policy and a healthcare system that is dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance R&D, diagnosis, treatment, and service availability for all rare conditions in the country. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness.

In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry. Amidst the COVID-19 pandemic, patients with undiagnosed and rare diseases have been facing significant health challenges. According to a study published in January 2021 by a group of researchers from the U.S., there is an urgent need for the development of approaches that can reduce the serious challenges affecting Rare & Undiagnosed diseases (RUD) patients and families. The challenges include diagnostic and/or prognostic uncertainty coupled with medical complexity leading to poor health outcomes.

In response to the challenges created by the pandemic, patient support groups and professional societies are actively involved in addressing these challenges. For instance, the Rare Chromosome Support Group (Unique), the British Society for Genomic Medicine, and Genetic Alliance U.K. are actively involved in supporting, advocating, and providing information to patients with diseases. Several rare conditions remain unclassified. The charity SWAN U.K. estimated that around 6,000 children are born each year with genetic conditions in the U.K. As per the agency, the conditions are extremely rare and cannot be named. Thus, there is a lack of proper diagnosis and prognosis for evidence-based treatment. At present, around 50% of the children who undergo genetic testing in the U.K. would not receive a confirmed diagnosis.

Around 50% of the children with learning disabilities and approximately 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth. North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. Asia Pacific is expected to register the fastest CAGR during the forecast years owing to the presence of a substantial number of organizations that are focusing on disease management.

Rare Disease Genetic Testing Market Report Highlights

  • The immunological disorders segment held a significant revue share in 2021. A rise in the cases of multiple sclerosis drives the growth as is one of the key focus areas in this segment
  • Based on technology, the NGS segment is expected to register the fastest CAGR from 2022 to 2030
  • This is due to the availability & adoption of NGS-based gene panels for cancer, neurologic disease, CVD, pediatric conditions, psychiatric disorders, and another rare disease testing
  • The molecular genetic tests specialty segment held the largest revenue share in 2021 due to the high adoption in research & clinical settings. A rise in CLIA-waived molecular genetic tests also offers lucrative growth opportunities
  • The research laboratories & CROs end-user segment led the industry in 2021 owing to a large number of genetic tests conducted in research laboratories and CROs

Table of Contents

Chapter 1 Research Methodology
1.1 Research Assumptions
1.2 Research Methodology
1.3 Information Procurement
1.4 Information or Data Analysis
1.5 Market Formulation & Validation
1.6 Market Model
1.6.1 Market Study, By Disease
1.6.2 Market Study, By Technology
1.6.3 Market Study, By Specialty
1.6.4 Market Study, By End Use
1.6.5 Regional Analysis
1.6.6 Company Market Share Analysis
Chapter 2 Executive Summary
2.1 Market Summary
Chapter 3 Market Variables, Trends, & Scope
3.1 Market Segmentation
3.2 Rare Disease Genetic Testing Market: Industry Pyramid Analysis
3.2.1 Parent Market Outlook
3.2.2 Related/Ancillary Market Outlook
3.3 Penetration and Growth Prospect Mapping for Technology, 2021
3.4 SWOT analysis, by a factor (Political & legal, economic, and technological)
3.5 Porter’s Five Forces Analysis
3.6 COVID-19 Impact Analysis
3.6.1 Rare Disease Genetic Testing Solutions During Covid-19
Chapter 4 Industry Outlook
4.1 Market Dynamics
4.1.1 Market Driver Analysis
4.1.1.1 Expanding patient registry for rare disease
4.1.1.2 Declining Sequencing Cost & Technological Advancements In Disease Diagnosis
4.1.1.3 Launch Of Programs & New Product Development In Rare Disease diagnosis
4.1.2 Market Restraint Analysis
4.1.2.1 Absence Of Effective Diagnosis Framework
4.1.2.2 Technical Challenges Associated With Genetic Tests & Data Management
4.1.3 Market Opportunity Analysis
4.1.3.1 Government & Regulatory Support For Rare Disease Diagnosis
4.1.4 Market Challenge Analysis
4.1.4.1 Limited Awareness about The Rare Disease Conditions
4.2 Regulatory Framework
4.2.1 U.S.
4.2.2 Europe
4.2.3 China
4.2.4 Japan
4.3 Major Deals And Strategic Alliances Analysis
4.3.1 New Product Launch
4.3.2 Mergers And Acquisitions
4.3.3 Partnerships
4.4 Rare Disease Genetic Testing Market: Company Market Share Analysis
Chapter 5 Disease Type Business Analysis
5.1 Rare Disease Genetic Testing Market: Disease Type Movement Analysis
5.2 Neurological Diseases
5.2.1 Global Genetic Testing Market For Rare Neurological Diseases, 2018 - 2030 (USD Million)
5.3 Immunological Disorders
5.3.1 Global Genetic Testing Market For Rare Immunological Disorders, 2018 - 2030 (USD Million)
5.4 Hematology Diseases
5.4.1 Global Genetic Testing Market For Rare Hematology Diseases, 2018 - 2030 (USD Million)
5.5 Endocrine & Metabolism Diseases
5.5.1 Global Genetic Testing Market For Rare Endocrine & Metabolism Diseases, 2018 - 2030 (USD Million)
5.6 Cancer
5.6.1 Global Genetic Testing Market For Rare Cancer Forms, 2018 - 2030 (USD Million)
5.7 Musculoskeletal Disorders
5.7.1 Global Genetic Testing Market For Rare Musculoskeletal Disorders, 2018 - 2030 (USD Million)
5.8 Cardiovascular Disorders (Cvd)
5.8.1 Global Genetic Testing Market For Rare Cardiovascular Disorders, 2018 - 2030 (USD Million)
5.9 Dermatology Diseases
5.9.1 Global Genetic Testing Market For Rare Dermatology Diseases, 2018 - 2030 (USD Million)
5.10 Other Rare Diseases
5.10.1 Global Genetic Testing Market For Other Rare Diseases, 2018 - 2030 (USD Million)
Chapter 6 Technology Business Analysis
6.1 Rare Disease Genetic Testing Market: Technology Movement Analysis
6.2 Next Generation Sequencing (NGS)
6.2.1 Global NGS-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.2.2 Whole Exome Sequencing (WES)
6.2.2.1 Global WES-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.2.3 Whole Genome Sequencing (WGS)
6.2.3.1 Global WGS-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.3 Array Technology
6.3.1 Global Array Technology-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.4 Pcr-Based Testing
6.4.1 Global Pcr-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.5 Fish
6.5.1 Global Fish-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.6 Sanger Sequencing
6.6.1 Global Sanger Sequencing-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
6.7 Karyotyping
6.7.1 Global Karyotyping-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
Chapter 7 Speciality Business Analysis
7.1 Molecular Genetic Tests
7.1.1 Global Molecular Genetic Tests Market For Rare Diseases, 2018 - 2030 (USD Million)
7.2 Chromosomal Genetic Tests
7.2.1 Global Chromosomal Genetic Tests Market For Rare Diseases, 2018 - 2030 (USD Million)
7.3 Biochemical Genetic Tests
7.3.1 Global Biochemical Genetic Tests Market For Rare Diseases, 2018 - 2030 (USD Million)
Chapter 8 End-Use Business Analysis
8.1 Research Laboratories & CROs
8.1.1 Global Research Laboratories & CROs-based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
8.2 Diagnostic Laboratories
8.2.1 Global Diagnostic Laboratories-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
8.3 Hospitals & Clinics
8.3.1 Global Hospitals & Clinics-Based Rare Disease Genetic Testing Market, 2018 - 2030 (USD Million)
Chapter 9 Regional Business Analysis
9.1 Rare Diseases Genetic Testing Market: Regional Movement Analysis
9.2 North America
9.2.1 North America Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.2.2 U.S.
9.2.2.1 U.S. Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.2.3 Canada
9.2.3.1 Canada Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3 Europe
9.3.1 Europe Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.2 Germany
9.3.2.1 Germany Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.3 U.K.
9.3.3.1 U.K. Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.4 Spain
9.3.4.1 Spain Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.5 France
9.3.5.1 France Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.6 Italy
9.3.6.1 Italy Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.3.7 The Netherlands
9.3.7.1 The Netherlands Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4 Asia Pacific
9.4.1 Asia Pacific Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.2 Japan
9.4.2.1 Japan Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.3 China
9.4.3.1 China Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.4 India
9.4.4.1 India Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.5 South Korea
9.4.5.1 South Korea Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.6 Singapore
9.4.6.1 Singapore Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.7 Australia
9.4.7.1 Australia Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.4.8 South East Asia
9.4.8.1 South East Asia Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.5 Latin America
9.5.1 Latin America Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.5.2 Brazil
9.5.2.1 Brazil Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.6 Middle East And Africa
9.6.1 Middle-East And Africa Rare Disease Genetic Testing Market Estimates And Forecast, 2018 - 2030 (USD Million)
9.6.2 South Africa
9.6.2.1 South Africa rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Chapter 10 Company Profiles
10.1 Strategy Framework
10.2 Company Participant categorization
10.3 Company Profiles
10.3.1 CENTOGENE N.V.
10.3.1.1 Company overview
10.3.1.2 Financial performance
10.3.1.3 Product benchmarking
10.3.1.4 Strategic initiatives
10.3.2 INVITAE CORPORATION
10.3.2.1 Company overview
10.3.2.2 Financial Performance
10.3.2.3 Product benchmarking
10.3.2.4 Strategic initiatives
10.3.3 3 BILLION, INC.
10.3.3.1 Company overview
10.3.3.2 Product benchmarking
10.3.3.3 Strategic initiatives
10.3.4 ARUP LABORATORIES
10.3.4.1 Company overview
10.3.4.2 Financial Performance
10.3.4.3 Product benchmarking
10.3.4.4 Strategic initiatives
10.3.5 EUROFINS SCIENTIFIC
10.3.5.1 Company overview
10.3.5.2 EUROFINS Genoma Group Srl a socio unico
10.3.5.2.1 Company Overview
10.3.5.3 Financial Performance
10.3.5.4 Product benchmarking
10.3.5.5 Strategic initiatives
10.3.6 STRAND LIFE SCIENCES
10.3.6.1 Company overview
10.3.6.2 Financial Performance
10.3.6.3 Product benchmarking
10.3.6.4 Strategic initiatives
10.3.7 QUEST DIAGNOSTICS INCORPORATED
10.3.7.1 Company overview
10.3.7.2 Blueprint Genetics Oy
10.3.7.2.1 Company Overview
10.3.7.3 Financial Performance
10.3.7.4 Product benchmarking
10.3.7.5 Strategic initiatives
10.3.8 PERKINELMER GENOMICS
10.3.8.1 Company overview
10.3.8.2 Financial Performance
10.3.8.3 Product benchmarking
10.3.9 REALM IDX, INC.
10.3.9.1 Company overview
10.3.9.2 Ambry Genetics
10.3.9.2.1 Company Overview
10.3.9.3 Financial Performance
10.3.9.3.1 Financial Performance: AMBRY GENETICS
10.3.9.4 Product benchmarking
10.3.9.5 Strategic initiatives
10.3.10 PSOMAGEN INC. (MACROGEN, INC.)
10.3.10.1 Company overview
10.3.10.2 Product benchmarking
10.3.10.3 Strategic initiatives
10.3.11 BAYLOR GENETICS
10.3.11.1 Company overview
10.3.11.2 Product benchmarking
10.3.11.3 Strategic initiatives
10.3.12 COLOR GENOMICS, INC.
10.3.12.1 Company overview
10.3.12.2 Financial performance
10.3.12.3 Product benchmarking
10.3.12.4 Strategic initiatives
10.3.13 HEALTH NETWORK LABORATORIES
10.3.13.1 Company overview
10.3.13.2 Connective Tissue Gene Tests
10.3.13.2.1 Company overview
10.3.13.3 Product benchmarking
10.3.13.4 Strategic initiatives
10.3.14 PREVENTION GENETICS
10.3.14.1 Company overview
10.3.14.2 Product benchmarking
10.3.14.3 Strategic initiatives
10.3.15 PROGENITY, INC.
10.3.15.1 Company overview
10.3.15.2 Financial performance
10.3.15.3 Product benchmarking
10.3.15.4 Strategic initiatives
10.3.16 COOPERSURGICAL, INC.
10.3.16.1 Company overview
10.3.16.2 Genesis Genetics
10.3.16.2.1 Company overview
10.3.16.3 Financial performance
10.3.16.4 Product benchmarking
10.3.16.5 Strategic initiatives
10.3.17 FULGENT GENETICS INC,
10.3.17.1 Company overview
10.3.17.2 Financial Performance
10.3.17.3 Product benchmarking
10.3.17.4 Strategic initiatives
10.3.18 MYRIAD GENETICS, INC.
10.3.18.1 Company overview
10.3.18.2 Counsyl, Inc.
10.3.18.2.1 Company overview
10.3.18.3 Financial Performance
10.3.18.4 Product benchmarking
10.3.18.5 Strategic initiatives
10.3.19 LABORATORY CORPORATION OF AMERICA HOLDINGS
10.3.19.1 Company overview
10.3.19.2 Sequenom
10.3.19.2.1 Company overview
10.3.19.3 Financial Performance
10.3.19.4 Product benchmarking
10.3.19.5 Strategic initiatives
10.3.20 OPKO HEALTH, INC.
10.3.20.1 Company overview
10.3.20.2 Bio-Reference Laboratories
10.3.20.2.1 Company overview
10.3.20.2.2 GENEDX
10.3.20.2.2.1 Company overview
10.3.20.3 Financial Performance
10.3.20.4 Product benchmarking
10.3.20.5 Strategic initiatives
10.3.21 ARTEMIS DNA
10.3.21.1 Company overview
10.3.21.2 Product benchmarking
List of Tables
Table 1 Inheritance pattern of rare diseases
Table 2 Distribution of registries by EU countries
Table 3 Rare disease policy and regulatory frameworks in EU
Table 4 North America rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 5 North America rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 6 North America NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 7 North America rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 8 North America rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 9 U.S. rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 10 U.S. rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 11 U.S. NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 12 U.S. rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 13 U.S. rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 14 Canada rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 15 Canada rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 16 Canada NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 17 Canada rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 18 Canada rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 19 Europe rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 20 Europe rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 21 Europe NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 22 Europe rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 23 Europe rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 24 Germany rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 25 Germany rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 26 Germany NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 27 Germany rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 28 Germany rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 29 U.K. rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 30 U.K. rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 31 U.K. NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 32 U.K. rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 33 U.K. rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 34 Spain rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 35 Spain rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 36 Spain NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 37 Spain rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 38 Spain rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 39 France rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 40 France rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 41 France NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 42 France rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 43 France rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 44 Italy rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 45 Italy rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 46 Italy NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 47 Italy rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 48 Italy rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 49 Netherlands rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 50 Netherlands rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 51 Netherlands NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 52 Netherlands rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 53 Netherlands rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 54 Asia Pacific rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 55 Asia Pacific rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 56 Asia Pacific NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 57 Asia Pacific rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 58 Asia Pacific rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 59 Japan rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 60 Japan rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 61 Japan NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 62 Japan rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 63 Japan rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 64 China rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 65 China rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 66 China NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 67 China rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 68 China rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 69 India rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 70 India rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 71 India NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 72 India rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 73 India rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 74 South Korea rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 75 South Korea rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 76 South Korea NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 77 South Korea rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 78 South Korea rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 79 Singapore rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 80 Singapore rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 81 Singapore NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 82 Singapore rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 83 Singapore rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 84 Australia rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 85 Australia rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 86 Australia NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 87 Australia rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 88 Australia rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 89 South East Asia rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 90 South East Asia rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 91 South East Asia NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 92 South East Asia rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 93 South East Asia rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 94 Latin America rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 95 Latin America rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 96 Latin America NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 97 Latin America rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 98 Latin America rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 99 Brazil rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 100 Brazil rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 101 Brazil NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 102 Brazil rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 103 Brazil rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 104 MEA rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 105 MEA rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 106 MEA NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 107 MEA rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 108 MEA rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
Table 109 South Africa rare disease genetic testing market estimates & forecasts, by disease type, 2018 - 2030 (USD Million)
Table 110 South Africa rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 111 South Africa NGS - based rare disease genetic testing market estimates & forecasts, by technology, 2018 - 2030 (USD Million)
Table 112 South Africa rare disease genetic testing market estimates & forecasts, by specialty, 2018 - 2030 (USD Million)
Table 113 South Africa rare disease genetic testing market estimates & forecasts, by end-use, 2018 - 2030 (USD Million)
List of Figures
FIG. 1 Market Research Process
Fig. 2 Information Procurement
Fig. 3 Primary Research
Fig. 4 Market Research Approaches
Fig. 5 Value Chain Based Sizing and Forecasting
Fig. 6 QFD Modelling for Market Share Assessment
Fig. 7 Market formulation & validation
Fig. 8 Rare diseases by inheritance pattern
Fig. 9 Definition of rare diseases by region
Fig. 10 Prevalence of Multiple sclerosis
Fig. 11 Prevalence rate of selected rare diseases in 2021
Fig. 12 Distribution of research projects for rare diseases
Fig. 13 Penetration of technologies in the rare disease diagnostics market
Fig. 14 QFD modeling for market share assessment for specialty scope, by type
Fig. 15 Penetration by end-use settings
Fig. 16 Regional analysis of rare disease genetic testing market
Fig. 17 QFD modeling for company market share assessment
Fig. 18 QFD modeling workflow for company market share assessment
Fig. 19 Rare disease genetic testing market snapshot, 2021 (USD Million)
Fig. 21 Ancillary market analysis
Fig. 22 Penetration and growth prospect mapping for specialty, 2021
Fig. 23 SWOT analysis, by a factor (Political & legal, economic, and technological)
Fig. 24 Porter’s Five Forces Analysis
Fig. 25 Rare disease genetic testing market driver impact
Fig. 26 Distribution of registries by affiliation in EU
Fig. 27 Illumina’s sequencing cost per MB
Fig. 28 Rare disease genetic testing market restraint impact
Fig. 29 Challenges in rare disease diagnosis
Fig. 30 Company market share analysis
Fig. 31 Rare disease genetic testing market: Disease type outlook and key takeaways
Fig. 32 Rare disease genetic testing market: Disease type movement analysis
Fig. 33 Global genetic testing market for rare neurology diseases, 2018 - 2030 (USD Million)
Fig. 34 Global genetic testing market for rare immunologic disorders, 2018 - 2030 (USD Million)
Fig. 35 Global genetic testing market for rare hematology diseases, 2018 - 2030 (USD Million)
Fig. 36 Global genetic testing market for rare endocrine & metabolism diseases, 2018 - 2030 (USD Million)
Fig. 37 Global genetic testing market for rare cancer forms, 2018 - 2030 (USD Million)
Fig. 38 Global genetic testing market for rare musculoskeletal disorders, 2018 - 2030 (USD Million)
Fig. 39 Global genetic testing market for rare cardiovascular disorders, 2018 - 2030 (USD Million)
Fig. 40 Global genetic testing market for rare dermatology diseases, 2018 - 2030 (USD Million)
Fig. 41 Global genetic testing market for other rare diseases, 2018 - 2030 (USD Million)
Fig. 42 Rare disease genetic testing market: Technology outlook and key takeaways
Fig. 43 Rare disease genetic testing market: Technology movement analysis
Fig. 44 DNA sequencing cost per genome
Fig. 45 DNA sequencing cost per genome
Fig. 46 Global NGS-based Rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 47 Comparison of growth in genetic testing units for exome & targeted exome, custom genes, large (>500 gene) panels
Fig. 48 Global WES-based rare disease genetic testing market 2018 - 2030 (USD Million)
Fig. 49 Global WGS-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 50 Global array specialty-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 51 Global PCR-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 52 Global FISH-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 53 Global sanger sequencing-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 54 Global karyotyping-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 55 Rare disease genetic testing market: Specialty outlook and key takeaways
Fig. 56 Rare disease genetic testing market: Specialty movement analysis
Fig. 57 DNA sequencing cost per Mb
Fig. 58 Global molecular genetic tests market for rare diseases, 2018 - 2030 (USD Million)
Fig. 59 Global chromosomal genetic tests market for rare diseases, 2018 - 2030 (USD Million)
Fig. 60 Global biochemical genetic tests market for rare diseases, 2018 - 2030 (USD Million)
Fig. 61 Rare disease genetic testing market: End-use outlook and key takeaways
Fig. 62 Rare disease genetic testing market: End-use movement analysis
Fig. 63 Global research laboratories & CROs-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 64 Global diagnostic laboratories-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 65 Global hospitals & clinics-based rare disease genetic testing market, 2018 - 2030 (USD Million)
Fig. 66 Rare disease genetic testing market: Regional outlook and key takeaways
Fig. 67 Rare disease genetic testing market: Regional movement analysis
Fig. 68 North America
Fig. 69 North America rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 70 U.S.
Fig. 71 U.S. rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 72 Canada
Fig. 73 Canada rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 74 Europe
Fig. 75 Europe rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 76 Germany
Fig. 77 Germany rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 78 U.K.
Fig. 79 U.K. rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 80 Spain
Fig. 81 Spain rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 82 France
Fig. 83 France rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 84 Italy
Fig. 85 Italy rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 86 The Netherlands
Fig. 87 The Netherlands rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 88 Asia-Pacific
Fig. 89 Asia-Pacific rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 90 Japan
Fig. 91 Japan rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 92 China
Fig. 93 China rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 94 India
Fig. 95 India rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 96 South Korea
Fig. 97 South Korea rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 98 Singapore
Fig. 99 Singapore rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 100 Australia
Fig. 101 Australia rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 102 South East Asia
Fig. 103 South East Asia rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 104 Latin America
Fig. 105 Latin America rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 106 Brazil
Fig. 107 Brazil rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 108 Middle East & Africa
Fig. 109 MEA rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 110 South Africa
Fig. 111 South Africa rare disease genetic testing market estimates and forecast, 2018 - 2030 (USD Million)
Fig. 112 Strategy framework
Fig. 113 Company participant categorization

Companies Mentioned

  • CENTOGENE N.V.
  • INVITAE CORPORATION
  • BILLION, INC.
  • ARUP LABORATORIES
  • EUROFINS SCIENTIFIC
  • EUROFINS Genoma Group Srl a socio unico
  • STRAND LIFE SCIENCES
  • QUEST DIAGNOSTICS INCORPORATED
  • Blueprint Genetics Oy
  • PERKINELMER GENOMICS
  • REALM IDX, INC.
  • Ambry Genetics
  • PSOMAGEN INC. (MACROGEN, INC.)
  • BAYLOR GENETICS
  • COLOR GENOMICS, INC.
  • HEALTH NETWORK LABORATORIES
  • PREVENTION GENETICS
  • PROGENITY, INC.
  • COOPERSURGICAL, INC.
  • FULGENT GENETICS INC,
  • MYRIAD GENETICS, INC.
  • Counsyl, Inc.
  • LABORATORY CORPORATION OF AMERICA HOLDINGS
  • OPKO HEALTH, INC.
  • GENEDX
  • ARTEMIS DNA

Methodology

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Table Information

Report AttributeDetails
No. of Pages150
PublishedAugust 2022
Forecast Period2022 - 2030
Estimated Market Value ( USD ) in 2022 $ 887.8 Million
Forecasted Market Value ( USD ) by 2030 $ 2520 Million
Compound Annual Growth Rate13.9%
Regions CoveredGlobal
No. of Companies Mentioned26

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