Rare Disease Genetic Testing Market Growth & Forecast [2031]

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Rare Disease Genetic Testing Market Growth & Forecast [2031]

Rare Disease Genetic Testing Market Growth & Forecast [2031]

Segments - Rare Disease Genetic Testing Market by Disease Types (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease, and Others), Technology (Next-generation Sequencing [Whole Exome Sequencing and Whole Genome Sequencing], Array Technology, PCR-based Testing, FISH, Sanger Sequencing, and Karyotyping), Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests), End-users (Research Laboratories & CROs, Diagnostic Laboratories, and Hospitals & Clinics), and Regions (Asia Pacific, North America, Latin America, Europe, and Middle East & Africa) - Global Industry Analysis, Growth, Share, Size, Trends, and Forecast 2023-2031

Author : Raksha Sharma

Fact-checked by : Vineet Pandey

Editor : Vishal Golekar

Report Description

Rare Disease Genetic Testing Market Outlook 2031

The global rare disease genetic testing market size was valued at USD 887.79 Million in 2022 and is expected to reach USD 2.97 Billion by 2031 expand at a substantial CAGR 14.4% during the forecast period, 2023-2031. The growth of the market is attributed to the rising number of patient registrations suffering from rare genetic disorders.

Rare disease genetic testing is a test taken by an individual to determine if there is any change that occurred in the structure of DNA, which results in the birth of any rare disorder. Such testing helps the experts to gain knowledge about the threats possessed by the particular disease to an individual and also offer to develop right treatments customized for that individual.

Global Rare Disease Genetic Testing Market Outlook

Numerous countries took the initiative to register these rare disorders so that all the information can be found in one place and can also be used to help others by providing the details and database. Companies such as Shire Pic have helped several countries to set up diagnostic testing centers and enable the experts to gain more knowledge on rare genetic diseases and genetic testing.

The outbreak of the COVID-19 pandemic had provided opportunity to boost the rare disease genetic testing market. Due to the pandemic, most of the major global players of the clinical diagnostic sector were provided opportunities to expand their product portfolio and develop a series of diagnostic kits to detect the coronavirus. Moreover, several laboratories and clinical centers are increasingly conducting clinical experiments using the diagnostic devices to determine the capacities and types of antibodies for the virus prevention.

Rare Disease Genetic Testing Market Trends, Drivers, Restraints, and Opportunities

Development of genetic testing methods that provide precise and on-time results is a key driving factor helping the market growth.
Advancement of innovative technologies for fast collection of data and diagnosis of such disorders is another factor driving the growth expansion.
Availability of advanced diagnostic devices and several government policies encouraging the expansion of clinical laboratory testing for the disorders are expected to fuel the market growth in the coming years.
Lack of awareness among people regarding rare genetic diseases is anticipated to act as a restraining point that can hamper market growth during the forecast period.
Ongoing R&D programs to find effective methods for the disorder treatment and expansion of clinical laboratories across the globe present key opportunities for the market.

Scope of Rare Disease Genetic Testing Market Report

The report on the global rare disease genetic testing market includes an assessment of the market, trends, segment, and regional markets. Overview and dynamics have also been included in the report.

Attributes	Details
Report Title	Rare Disease Genetic Testing Market - Global Industry Analysis, Growth, Share, Size, Trends, and Forecast
Base Year	2022
Historic Data	2016-2021
Forecast Period	2023-2031
Segmentation	Disease Types (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease, and Others), Technology (Next-generation Sequencing [Whole Exome Sequencing and Whole Genome Sequencing], Array Technology, PCR-based Testing, FISH, Sanger Sequencing, and Karyotyping), Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests), and End-users (Research Laboratories & CROs, Diagnostic Laboratories, and Hospitals & Clinics)
Regional Scope	Asia Pacific, North America, Latin America, Europe, and Middle East & Africa
Report Coverage	Company Share, Market Analysis and Size, Competitive Landscape, Growth Factors, and Trends, and Revenue Forecast
Key Players Covered in the Reort	Quest Diagnostics Inc.; Centogene N.V.; Invitae Corporation; 3billion, Inc.; Arup Laboratories; Eurofins Scientific; Strand Life Sciences; Ambry Genetics; Perkin Elmer, Inc.; Macrogen, Inc.; Baylor Genetics; Color Genomics, Inc.; Health Network Laboratories; Preventiongenetics; Progenity, Inc.; Coopersurgical, Inc.; Fulgent Genetics Inc.; Myriad Genetics, Inc.; Laboratory Corporation Of America Holdings; and Opko Health, Inc.

Rare Disease Genetic Testing Market Segment Insights

Neurological disorders segment is anticipated to constitute a key market share

Based on disease types, the rare disease genetic testing market is divided into neurological disorders, immunological disorders, hematology diseases, endocrine & metabolism diseases, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology diseases. The neurological disorders segment is anticipated to constitute a key market share in the coming years owing to a large number of tests performed to diagnose neurological diseases.

Moreover, the wide prevalence of neurological disorders and rapid advancement of devices for the treatment of such disorders present key factors for the segment growth.

Global Rare Disease Genetic Testing Market Disease Types

Whole exome sequencing segment is expected to grow at a rapid pace

On the basis of technology, the market is segregated into next-generation sequencing (NGS), array technology, PCR-based testing, FISH, sanger sequencing, and karyotyping. The next-generation sequencing segment is further bifurcated into whole exome sequencing and whole genome sequencing. The NGS segment is projected to accounts for a key share of the market owing to wide adoption of the technology for screening of several rare disease genetic disorders.

However, the WES segment is anticipated to grow at a rapid pace during the forecast period owing to the availability of cost-effective and high accurate testing methods of WES-based testing devices. Moreover, the increasing adoption of whole genome sequencing method for the diagnostic of rare diseases is expected to push the segment growth at a significant pace.

Biochemical genetic test segment is expected to grow at a fast pace

Based on specialty, the rare disease genetic testing market is divided into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. The molecular genetic test segment held a key share representing more than 32.5% of the global market in 2020 and is expected to constitute a major share of the market in the coming years. However, the biochemical genetic test segment is expected to grow at a fast pace owing to its accuracy in providing precise information about the lack of substances in DNA that can cause a genetic disorder.

Research Laboratories & CRO segment to constitute a key market share

On the basis of end-users, the market is categorized as research laboratories & CROs, diagnostic laboratories, and hospitals & Clinics. The research laboratories & CROs segment accounted for a dominant share holding a share of more than 41.5% of the global market in 2020 owing to the fact that the major samples for genetic tests are sent to laboratories.

The diagnosis performed in lab provides accurate results based on various factors that cause the rare disorder. Moreover different laboratories also provide advice and guidance on genetics, which proves to be an effective service to the patients. This is expected to further propel the growth of the particular segment. Several initiatives have also been taken by different laboratories such as acquiring or launching other genetic laboratories including Centogene to detect the genetic rare diseases, which help to boost the diagnostic centers segment.

Rare Disease Genetic Testing Market End Users

Asia Pacific is expected to exhibit a high CAGR

In terms of region, the global rapid medical diagnostic kits market is classified as Asia Pacific, North America, Latin America, Europe, and Middle East & Africa. North America held a key share of the market in 2020 and is projected to exhibit a considerable market share in the coming years. Whereas, the market of Asia Pacific is estimated to exhibit a high CAGR during the forecast period owing to a rise in awareness among people across the region.

China is also taking several measures for the management of rare diseases in a search of finding effective diagnostic and treatment solution for such rare diseases.

Global Rare Disease Genetic Testing Market Region

Segments

The global rare disease genetic testing market has been segmented on the basis of

Disease Types

Neurological Diseases
Hematology Diseases
Endocrine & Metabolism Diseases
Musculoskeletal Disorders
Cardiovascular Disorders
Dermatology Disease

Technology

Next-generation Sequencing
- Whole Exome Sequencing
- Whole Genome Sequencing
Array Technology
PCR-based Testing
FISH, Sanger Sequencing
Karyotyping
Specialty
Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests

End-Users

Research Laboratories & CROs
Diagnostic Laboratories
Hospitals & Clinics

Regions

Asia Pacific
North America
Latin America
Europe
Middle East & Africa

Key Players

Quest Diagnostics Inc.
Centogene N.V.
Invitae Corporation
3billion, Inc.
Arup Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer, Inc.
Macrogen, Inc.
Baylor Genetics
Color Genomics, Inc.
Health Network Laboratories
Preventiongenetics; Progenity, Inc.
Coopersurgical, Inc.
Fulgent Genetics Inc.
Myriad Genetics, Inc.
Laboratory Corporation Of America Holdings
Opko Health, Inc.

Competitive Landscape

Key players competing in the global rare disease genetic testing market are Quest Diagnostics Inc.; Centogene N.V.; Invitae Corporation; 3billion, Inc.; Arup Laboratories; Eurofins Scientific; Strand Life Sciences; Ambry Genetics; Perkin Elmer, Inc.; Macrogen, Inc.; Baylor Genetics; Color Genomics, Inc.; Health Network Laboratories; Preventiongenetics; Progenity, Inc.; Coopersurgical, Inc.; Fulgent Genetics Inc.; Myriad Genetics, Inc.; Laboratory Corporation Of America Holdings; and Opko Health, Inc.

Global Rare Disease Genetic Testing Market Key Players

Table Of Content

1. Executive Summary
2. Assumptions and Acronyms Used
3. Research Methodology
4. Rare Disease Genetic Testing Market Overview
  4.1. Introduction
     4.1.1. Market Taxonomy
     4.1.2. Market Definition
  4.2. Macro-Economic Factors
     4.2.1. Industry Outlook
  4.3. Rare Disease Genetic Testing Market Dynamics
     4.3.1. Market Drivers
     4.3.2. Market Restraints
     4.3.3. Opportunity
     4.3.4. Market Trends
  4.4. Rare Disease Genetic Testing Market - Supply Chain
  4.5. Global Rare Disease Genetic Testing Market Forecast
     4.5.1. Rare Disease Genetic Testing Market Size (US$ Mn) and Y-o-Y Growth
     4.5.2. Rare Disease Genetic Testing Market Size (000â€™ Units) and Y-o-Y Growth
     4.5.3. Rare Disease Genetic Testing Market Absolute $ Opportunity
5. Global Rare Disease Genetic Testing Market Analysis and Forecast by Region
  5.1. Market Trends
  5.2. Introduction
     5.2.1. Basis Point Share (BPS) Analysis by Region
     5.2.2. Y-o-Y Growth Projections by Region
  5.3. Rare Disease Genetic Testing Market Size and Volume Forecast by Region
     5.3.1. North America
     5.3.2. Latin America
     5.3.3. Europe
     5.3.4. Asia Pacific
     5.3.5. Middle East and Africa (MEA)
  5.4. Absolute $ Opportunity Assessment by Region
  5.5. Market Attractiveness/Growth Potential Analysis by Region
  5.6. Global Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
6. North America Rare Disease Genetic Testing Market Analysis and Forecast
  6.1. Introduction
     6.1.1. Basis Point Share (BPS) Analysis by Country
     6.1.2. Y-o-Y Growth Projections by Country
  6.2. North America Rare Disease Genetic Testing Market Size and Volume Forecast by Country
     6.2.1. U.S.
     6.2.2. Canada
  6.3. Absolute $ Opportunity Assessment by Country
  6.4. Market Attractiveness/Growth Potential Analysis
     6.4.1. By Country
     6.4.2. By Product Type
     6.4.3. By Application
  6.5. North America Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
7. Latin America Rare Disease Genetic Testing Market Analysis and Forecast
  7.1. Introduction
     7.1.1. Basis Point Share (BPS) Analysis by Country
     7.1.2. Y-o-Y Growth Projections by Country
     7.1.3. Latin America Average Pricing Analysis
  7.2. Latin America Rare Disease Genetic Testing Market Size and Volume Forecast by Country
      7.2.1. Brazil
      7.2.2. Mexico
      7.2.3. Rest of Latin America
   7.3. Absolute $ Opportunity Assessment by Country
  7.4. Market Attractiveness/Growth Potential Analysis
     7.4.1. By Country
     7.4.2. By Product Type
     7.4.3. By Application
  7.5. Latin America Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
8. Europe Rare Disease Genetic Testing Market Analysis and Forecast
  8.1. Introduction
     8.1.1. Basis Point Share (BPS) Analysis by Country
     8.1.2. Y-o-Y Growth Projections by Country
     8.1.3. Europe Average Pricing Analysis
  8.2. Europe Rare Disease Genetic Testing Market Size and Volume Forecast by Country
     8.2.1. Germany
     8.2.2. France
     8.2.3. Italy
     8.2.4. U.K.
     8.2.5. Spain
     8.2.6. Russia
     8.2.7. Rest of Europe
  8.3. Absolute $ Opportunity Assessment by Country
  8.4. Market Attractiveness/Growth Potential Analysis
     8.4.1. By Country
     8.4.2. By Product Type
     8.4.3. By Application
  8.5. Europe Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
9. Asia Pacific Rare Disease Genetic Testing Market Analysis and Forecast
  9.1. Introduction
     9.1.1. Basis Point Share (BPS) Analysis by Country
     9.1.2. Y-o-Y Growth Projections by Country
     9.1.3. Asia Pacific Average Pricing Analysis
  9.2. Asia Pacific Rare Disease Genetic Testing Market Size and Volume Forecast by Country
     9.2.1. China
     9.2.2. Japan
     9.2.3. South Korea
     9.2.4. India
     9.2.5. Australia
     9.2.6. Rest of Asia Pacific (APAC)
  9.3. Absolute $ Opportunity Assessment by Country
  9.4. Market Attractiveness/Growth Potential Analysis
     9.4.1. By Country
     9.4.2. By Product Type
     9.4.3. By Application
  9.5. Asia Pacific Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
10. Middle East & Africa Rare Disease Genetic Testing Market Analysis and Forecast
  10.1. Introduction
     10.1.1. Basis Point Share (BPS) Analysis by Country
     10.1.2. Y-o-Y Growth Projections by Country
     10.1.3. Middle East & Africa Average Pricing Analysis
  10.2. Middle East & Africa Rare Disease Genetic Testing Market Size and Volume Forecast by Country
     10.2.1. Saudi Arabia
     10.2.2. South Africa
     10.2.3. UAE
     10.2.4. Rest of Middle East & Africa (MEA)
  10.3. Absolute $ Opportunity Assessment by Country
  10.4. Market Attractiveness/Growth Potential Analysis
     10.4.1. By Country
     10.4.2. By Product Type
     10.4.3. By Application
  10.5. Middle East & Africa Rare Disease Genetic Testing Demand Share Forecast, 2019-2026
11. Competition Landscape
  11.1. Global Rare Disease Genetic Testing Market: Market Share Analysis
  11.2. Rare Disease Genetic Testing Distributors and Customers
  11.3. Rare Disease Genetic Testing Market: Competitive Dashboard
  11.4. Company Profiles (Details: Overview, Financials, Developments, Strategy)
     11.4.1. Quest Diagnostics Inc.
     11.4.2. Centogene N.V.
     11.4.3. Invitae Corporation
     11.4.4. 3billion, Inc.
     11.4.5. Arup Laboratories
     11.4.6. Eurofins Scientific