Report Description

The global rare disease diagnostics market is anticipated to observe impressive growth during the forecast period, 2023-2027. The major factors include growing incidence of rare disorders, adoption of advanced technology, and increase in investments in R&D are impelling the growth of the market. Rare diseases or orphan diseases is any disease that affect a small percentage of the population. The other factors supporting the market’s growth are, increasing government initiatives for spreading awareness, expanding patient registry for rare disease, declining sequencing cost, rising geriatric population, growing launch of programs & new product development in rare disease diagnosis, and rise in research and development activities.

Rising incidence of rare disorders will fuel the market growth

Rare diseases are not rarer as there are many people who are suffering from the disease. They affect more people than the combination of AIDS & Cancer. For instance, as per the European Journal of Human Genetics, the number of people living with a rare disease is estimated at 300 million, across the globe. Owing to the rise in number of people suffering from rare diseases such as, Agammaglobulinemia, Goodpasture Syndrome, Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis), Leukocyte Adhesion Deficiency, Pediatric Bruton Agammaglobulinemia, Pediatric Severe Combined Immunodeficiency, Schnitzler Syndrome and others, the surge in demand for the diagnosis is bolstering the growth of the market.

Technological Advancements in Disease Diagnosis

Rise in adoption of advanced technology in the field of rare diseases diagnostic is augmenting the growth of the market. New innovative technologies and advancements such as artificial intelligence (AI), NGS-based testing, and automation technology is assisting to reduce time and cost, and enabling more accurate diagnosis, when compared to standard manual analysis. For instance, increase in adoption of the Whole Exome Sequencing (WES) genetic testing tool. The technique aims only exons, which make 1-2% of the whole genome and include 80% of all disease-causing mutations.

Rising Awareness of diagnosis of rare diseases

Early diagnosis of rare diseases is very essential as it can help people to treat these conditions timely without suffering. Thus, rise in awareness about rare diseases in general public, and patients is facilitating the growth of the market. Various initiatives by government and non-government organization are taken to make people aware about the early diagnosis and treatment of the disease.  For instance, every year, rare diseases day at NIH takes place which aims to raise awareness about rare diseases and the impact they have on patients’ lives.


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Market Segmentation

The global rare disease diagnostics market is segmented into indication, trait type, test type, technology, sample type, end user and company. Based on indication, the market is divided into gastroenterology disease, endocrine & metabolism disorders disease, cardiovascular disorders, hematology & oncology disease, and others. Based on trait type, the market is divided into inherited and acquired. Based on test type, the market is segmented into genetic tests, general lab tests, diagnostic imaging, and others. Based on technology, the market is divided into next generation sequencing, whole genome sequencing, whole exome sequencing, microarrays, and others. Based on sample type, the market is divided into DNA sample, blood sample, saliva sample, and others. Based on end user, the market is divided into hospitals & clinics, academic & research institutes, and others. In terms of country, the United States is expected to be a lucrative market in the forecast period due to rising occurrences of rare disease in the country.

Market Players

Agilent Technologies, Inc., Illumina, Inc., QIAGEN NV, PerkinElmer, Inc, Quest Diagnostics, Inc., CENTOGENE N.V., 23andMe, Inc., 3billion, Inc., Eurofins Scientific SE, and Invitae Corporation are some of the leading companies operating in the market.

Attribute

Details

Base Year

2021

Historic Data

2017 – 2020

Estimated Year

2022

Forecast Period

2023 – 2027

Quantitative Units

Revenue in USD Million, Volume Units and CAGR for 2017-2021 and 2022-2027

Report coverage

Revenue forecast, Volume forecast company share, competitive landscape, growth factors, and trends

Segments covered

·         Indication

·         Trait Type

·         Test Type

·         Technology

·         Sample Type

·         End User

·         Company

Regional scope

North America; Asia Pacific; Europe & CIS; South America; Middle East & Africa

Country scope

United States; Canada; Mexico; China; India; Japan; South Korea; Germany; France; United Kingdom; Spain; Italy; Brazil; Argentina; Colombia; South Africa; UAE; Saudi Arabia; South Africa

Key companies profiled

Agilent Technologies, Inc., Illumina, Inc., QIAGEN NV, PerkinElmer, Inc, Quest Diagnostics, Inc., CENTOGENE N.V., 23andMe, Inc., 3billion, Inc., Eurofins Scientific SE, and Invitae Corporation

Customization scope

10% free report customization with purchase. Addition or alteration to country, regional & segment scope.

Pricing and purchase options

Avail customized purchase options to meet your exact research needs. Explore purchase options

Delivery Format

PDF and Excel through Email (We can also provide the editable version of the report in PPT/Word format on special request)


Report Scope:

In this report, global rare disease diagnostics market has been segmented into following categories, in addition to the industry trends which have also been detailed below:

·         Rare Disease Diagnostics Market, By Indication:

    • Gastroenterology Disease
    • Endocrine & Metabolism Disorders Disease
    • Cardiovascular Disorders
    • Hematology & Oncology Disease
    • Others    

·         Rare Disease Diagnostics Market, By Trait Type:

o    Inherited

o    Acquired

·         Rare Disease Diagnostics Market, By Test Type:

    • Genetic Tests
    • General Lab Tests
    • Diagnostic Imaging
    • Others

·         Rare Disease Diagnostics Market, By Technology:

o    Next Generation Sequencing

o    Whole Genome Sequencing

o    Whole Exome Sequencing

o    Microarrays

o    Others

·         Rare Disease Diagnostics Market, By Sample Type:

o    DNA Sample

o    Blood Sample

o    Saliva Sample

o    Others

·         Rare Disease Diagnostics Market, By End User:

    • Hospitals & Clinics
    • Academic & Research Institutes
    • Others

·         Rare Disease Diagnostics Market, By Region:

    • North America
      • United States
      • Canada
      • Mexico
    • Asia-Pacific
      • China
      • India
      • Japan
      • Australia
      • South Korea
    • Europe & CIS
      • Germany
      • France
      • United Kingdom
      • Spain
      • Italy
    • South America
      • Brazil
      • Argentina
      • Colombia
    • Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in Global Rare Disease Diagnostics Market

Available Customizations:

With the given market data, TechSci Research offers customizations according to a company’s specific needs. The following customization options are available for the report:

Company Information

  • Detailed analysis and profiling of additional market players (up to five).
Rare Disease Diagnostics Market is an upcoming report to be released soon. If you wish an early delivery of this report or want to confirm the date of release, please contact us at [email protected]

Table of content

1.    Product Overview

2.    Research Methodology

3.    Executive Summary

4.    Impact of COVID-19 on Global Rare Disease Diagnostics Market

5.    Voice of Customer

6.    Global Rare Disease Diagnostics Market Outlook

6.1.  Market Size & Forecast

6.1.1.     By Value

6.2.  Market Share & Forecast

6.2.1.     By Indication (Gastroenterology Disease, Endocrine & Metabolism Disorders Disease, Cardiovascular Disorders, Hematology & Oncology Disease, Others)

6.2.2.     By Trait Type (Inherited v/s Acquired)

6.2.3.     By Test Type (Genetic Tests, General Lab Tests, Diagnostic Imaging, Others)

6.2.4.     By Technology (Next Generation Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays, Others)

6.2.5.     By Sample Type (DNA Sample, Blood Sample, Saliva Sample, Others)

6.2.6.     By End User (Hospitals & Clinics, Academic & Research Institutes, Others)

6.2.7.     By Region

6.2.8.     By Company (2021)

6.3.  Market Map

7.    North America Rare Disease Diagnostics Market Outlook

7.1.  Market Size & Forecast          

7.1.1.     By Value

7.2.  Market Share & Forecast

7.2.1.     By Indication

7.2.2.     By Trait Type

7.2.3.     By Test Type

7.2.4.     By Technology

7.2.5.     By Sample Type

7.2.6.     By End User

7.2.7.     By Country

7.3.  North America: Country Analysis

7.3.1.     United States Rare Disease Diagnostics Market Outlook

7.3.1.1.         Market Size & Forecast

7.3.1.1.1.             By Value

7.3.1.2.         Market Share & Forecast

7.3.1.2.1.             By Indication

7.3.1.2.2.             By Trait Type

7.3.1.2.3.             By Test Type

7.3.1.2.4.             By Technology

7.3.1.2.5.             By Sample Type

7.3.1.2.6.             By End User

7.3.2.     Canada Rare Disease Diagnostics Market Outlook

7.3.2.1.         Market Size & Forecast

7.3.2.1.1.             By Value

7.3.2.2.         Market Share & Forecast

7.3.2.2.1.             By Indication

7.3.2.2.2.             By Trait Type

7.3.2.2.3.             By Test Type

7.3.2.2.4.             By Technology

7.3.2.2.5.             By Sample Type

7.3.2.2.6.             By End User

7.3.3.     Mexico Rare Disease Diagnostics Market Outlook

7.3.3.1.         Market Size & Forecast

7.3.3.1.1.             By Value

7.3.3.2.         Market Share & Forecast

7.3.3.2.1.             By Indication

7.3.3.2.2.             By Trait Type

7.3.3.2.3.             By Test Type

7.3.3.2.4.             By Technology

7.3.3.2.5.             By Sample Type

7.3.3.2.6.             By End User

8.    Europe Rare Disease Diagnostics Market Outlook

8.1.  Market Size & Forecast          

8.1.1.     By Value

8.2.  Market Share & Forecast

8.2.1.     By Indication

8.2.2.     By Trait Type

8.2.3.     By Test Type

8.2.4.     By Technology

8.2.5.     By Sample Type

8.2.6.     By End User

8.2.7.     By Country

8.3.  Europe: Country Analysis

8.3.1.     France Rare Disease Diagnostics Market Outlook

8.3.1.1.         Market Size & Forecast

8.3.1.1.1.             By Value

8.3.1.2.         Market Share & Forecast

8.3.1.2.1.             By Indication

8.3.1.2.2.             By Trait Type

8.3.1.2.3.             By Test Type

8.3.1.2.4.             By Technology

8.3.1.2.5.             By Sample Type

8.3.1.2.6.             By End User

8.3.2.     Germany Rare Disease Diagnostics Market Outlook

8.3.2.1.         Market Size & Forecast

8.3.2.1.1.             By Value

8.3.2.2.         Market Share & Forecast

8.3.2.2.1.             By Indication

8.3.2.2.2.             By Trait Type

8.3.2.2.3.             By Test Type

8.3.2.2.4.             By Technology

8.3.2.2.5.             By Sample Type

8.3.2.2.6.             By End User

8.3.3.     United Kingdom Rare Disease Diagnostics Market Outlook

8.3.3.1.         Market Size & Forecast

8.3.3.1.1.             By Value

8.3.3.2.         Market Share & Forecast

8.3.3.2.1.             By Indication

8.3.3.2.2.             By Trait Type

8.3.3.2.3.             By Test Type

8.3.3.2.4.             By Technology

8.3.3.2.5.             By Sample Type

8.3.3.2.6.             By End User

8.3.4.     Italy Rare Disease Diagnostics Market Outlook

8.3.4.1.         Market Size & Forecast

8.3.4.1.1.             By Value

8.3.4.2.         Market Share & Forecast

8.3.4.2.1.             By Indication

8.3.4.2.2.             By Trait Type

8.3.4.2.3.             By Test Type

8.3.4.2.4.             By Technology

8.3.4.2.5.             By Sample Type

8.3.4.2.6.             By End User

8.3.5.     Spain Rare Disease Diagnostics Market Outlook

8.3.5.1.         Market Size & Forecast

8.3.5.1.1.             By Value

8.3.5.2.         Market Share & Forecast

8.3.5.2.1.             By Indication

8.3.5.2.2.             By Trait Type

8.3.5.2.3.             By Test Type

8.3.5.2.4.             By Technology

8.3.5.2.5.             By Sample Type

8.3.5.2.6.             By End User

9.    Asia-Pacific Rare Disease Diagnostics Market Outlook

9.1.  Market Size & Forecast          

9.1.1.     By Value

9.2.  Market Share & Forecast

9.2.1.     By Indication

9.2.2.     By Trait Type

9.2.3.     By Test Type

9.2.4.     By Technology

9.2.5.     By Sample Type

9.2.6.     By End User

9.2.7.     By Country

9.3.  Asia-Pacific: Country Analysis

9.3.1.     China Rare Disease Diagnostics Market Outlook

9.3.1.1.         Market Size & Forecast

9.3.1.1.1.             By Value

9.3.1.2.         Market Share & Forecast

9.3.1.2.1.             By Indication

9.3.1.2.2.             By Trait Type

9.3.1.2.3.             By Test Type

9.3.1.2.4.             By Technology

9.3.1.2.5.             By Sample Type

9.3.1.2.6.             By End User

9.3.2.     India Rare Disease Diagnostics Market Outlook

9.3.2.1.         Market Size & Forecast

9.3.2.1.1.             By Value

9.3.2.2.         Market Share & Forecast

9.3.2.2.1.             By Indication

9.3.2.2.2.             By Trait Type

9.3.2.2.3.             By Test Type

9.3.2.2.4.             By Technology

9.3.2.2.5.             By Sample Type

9.3.2.2.6.             By End User

9.3.3.     Japan Rare Disease Diagnostics Market Outlook

9.3.3.1.         Market Size & Forecast

9.3.3.1.1.             By Value

9.3.3.2.         Market Share & Forecast

9.3.3.2.1.             By Indication

9.3.3.2.2.             By Trait Type

9.3.3.2.3.             By Test Type

9.3.3.2.4.             By Technology

9.3.3.2.5.             By Sample Type

9.3.3.2.6.             By End User

9.3.4.     South Korea Rare Disease Diagnostics Market Outlook

9.3.4.1.         Market Size & Forecast

9.3.4.1.1.             By Value

9.3.4.2.         Market Share & Forecast

9.3.4.2.1.             By Indication

9.3.4.2.2.             By Trait Type

9.3.4.2.3.             By Test Type

9.3.4.2.4.             By Technology

9.3.4.2.5.             By Sample Type

9.3.4.2.6.             By End User

9.3.5.     Australia Rare Disease Diagnostics Market Outlook

9.3.5.1.         Market Size & Forecast

9.3.5.1.1.             By Value

9.3.5.2.         Market Share & Forecast

9.3.5.2.1.             By Indication

9.3.5.2.2.             By Trait Type

9.3.5.2.3.             By Test Type

9.3.5.2.4.             By Technology

9.3.5.2.5.             By Sample Type

9.3.5.2.6.             By End User

10.  South America Rare Disease Diagnostics Market Outlook

10.1.              Market Size & Forecast

10.1.1.  By Value

10.2.              Market Share & Forecast

10.2.1.  By Indication

10.2.2.  By Trait Type

10.2.3.  By Test Type

10.2.4.  By Technology

10.2.5.  By Sample Type

10.2.6.  By End User

10.2.7.  By Country

10.3.              South America: Country Analysis

10.3.1.  Brazil Rare Disease Diagnostics Market Outlook

10.3.1.1.      Market Size & Forecast

10.3.1.1.1.           By Value

10.3.1.2.      Market Share & Forecast

10.3.1.2.1.           By Indication

10.3.1.2.2.           By Trait Type

10.3.1.2.3.           By Test Type

10.3.1.2.4.           By Technology

10.3.1.2.5.           By Sample Type

10.3.1.2.6.           By End User

10.3.2.  Argentina Rare Disease Diagnostics Market Outlook

10.3.2.1.      Market Size & Forecast

10.3.2.1.1.           By Value

10.3.2.2.      Market Share & Forecast

10.3.2.2.1.           By Indication

10.3.2.2.2.           By Trait Type

10.3.2.2.3.           By Test Type

10.3.2.2.4.           By Technology

10.3.2.2.5.           By Sample Type

10.3.2.2.6.           By End User

10.3.3.  Colombia Rare Disease Diagnostics Market Outlook

10.3.3.1.      Market Size & Forecast

10.3.3.1.1.           By Value

10.3.3.2.      Market Share & Forecast

10.3.3.2.1.           By Indication

10.3.3.2.2.           By Trait Type

10.3.3.2.3.           By Test Type

10.3.3.2.4.           By Technology

10.3.3.2.5.           By Sample Type

10.3.3.2.6.           By End User

11.  Middle East and Africa Rare Disease Diagnostics Market Outlook

11.1.              Market Size & Forecast

11.1.1.  By Value

11.2.              Market Share & Forecast

11.2.1.  By Indication

11.2.2.  By Trait Type

11.2.3.  By Test Type

11.2.4.  By Technology

11.2.5.  By Sample Type

11.2.6.  By End User

11.2.7.  By Country

11.3.              MEA: Country Analysis

11.3.1.  South Africa Rare Disease Diagnostics Market Outlook

11.3.1.1.      Market Size & Forecast

11.3.1.1.1.           By Value

11.3.1.2.      Market Share & Forecast

11.3.1.2.1.           By Indication

11.3.1.2.2.           By Trait Type

11.3.1.2.3.           By Test Type

11.3.1.2.4.           By Technology

11.3.1.2.5.           By Sample Type

11.3.1.2.6.           By End User

11.3.2.  Saudi Arabia Rare Disease Diagnostics Market Outlook

11.3.2.1.      Market Size & Forecast

11.3.2.1.1.           By Value

11.3.2.2.      Market Share & Forecast

11.3.2.2.1.           By Indication

11.3.2.2.2.           By Trait Type

11.3.2.2.3.           By Test Type

11.3.2.2.4.           By Technology

11.3.2.2.5.           By Sample Type

11.3.2.2.6.           By End User

11.3.3.  UAE Rare Disease Diagnostics Market Outlook

11.3.3.1.      Market Size & Forecast

11.3.3.1.1.           By Value

11.3.3.2.      Market Share & Forecast

11.3.3.2.1.           By Indication

11.3.3.2.2.           By Trait Type

11.3.3.2.3.           By Test Type

11.3.3.2.4.           By Technology

11.3.3.2.5.           By Sample Type

11.3.3.2.6.           By End User

12.  Market Dynamics

12.1.              Drivers

12.2.              Challenges

13.  Market Trends & Developments

14.  Competitive Landscape (Inclusive of SWOT Analysis)

14.1.              Agilent Technologies, Inc.

14.2.              Illumina, Inc.

14.3.              QIAGEN NV

14.4.              PerkinElmer, Inc

14.5.              Quest Diagnostics, Inc.

14.6.              CENTOGENE N.V.

14.7.              23andMe, Inc.

14.8.              3billion, Inc.

14.9.              Eurofins Scientific SE

14.10.            Invitae Corporation

15.  Strategic Recommendations

Figures and Tables

Frequently asked questions

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Growing incidences of rare diseases, rising adoption of advanced techniques, and extensive research and development are driving the demand for the global rare disease diagnostics market.

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Agilent Technologies, Inc., Illumina, Inc., QIAGEN NV, PerkinElmer, Inc, Quest Diagnostics, Inc., CENTOGENE N.V., 23andMe, Inc., 3billion, Inc., Eurofins Scientific SE, and Invitae Corporation are the key players operating in the global rare disease diagnostics market.

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The high cost compared to other technology, high capital requirement, and stringent regulatory standards may hamper the growth of the global rare disease diagnostics market.

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The Asia-Pacific is expected to register the highest CAGR during the forecast period.

profile

Sakshi Bajaal

Business Consultant
Press Release

Rare Disease Diagnostics Market to be dominated by Growing Incidence of Rare Disorders through 2027

Sep, 2022

Growing prevalence of rare diseases and rise in technological advancements to drive the rare disease diagnostics market in the forecast period, 2023-2027.