Home Healthcare IT Rare Disease Genetic Testing Market Size & Analysis Report, 2033

Rare Disease Genetic Testing Market Size & Outlook, 2025-2033

Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report By Disease Type (Immunological Disorders, Cardiovascular Disorders, Neurological Disease, Endocrine and Metabolism Disorders Diseases, Hematological Diseases, Dermatological Disease, Others), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By Technology (Next-Generation Sequencing, Sanger Sequencing, PCR Based Testing, Array Based Testing, FISH, Others), By End-User (Hospitals and Clinics, Research Laboratories and CROs, Diagnostic Laboratories) and By Region(North America, Europe, APAC, Middle East and Africa, LATAM) Forecasts, 2025-2033

Report Code: SRHI54770DR
Last Updated : Jun, 2025
Pages : 110
Author : Debashree Bora
Format : PDF, Excel

Table Of Content

  1. Executive Summary

    1. Research Objectives
    2. Limitations & Assumptions
    3. Market Scope & Segmentation
    4. Currency & Pricing Considered
    1. Emerging Regions / Countries
    2. Emerging Companies
    3. Emerging Applications / End Use
    1. Drivers
    2. Market Warning Factors
    3. Latest Macro Economic Indicators
    4. Geopolitical Impact
    5. Technology Factors
    1. Porters Five Forces Analysis
    2. Value Chain Analysis
    1. North America
    2. Europe
    3. APAC
    4. Middle East and Africa
    5. LATAM
  2. ESG Trends

    1. Global Rare Disease Genetic Testing Market Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    1. Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    6. U.S.
      1. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Immunological Disorders
          1. By Value
        3. Cardiovascular Disorders
          1. By Value
        4. Neurological Disease
          1. By Value
        5. Endocrine and Metabolism Disorders Diseases
          1. By Value
        6. Hematological Diseases
          1. By Value
        7. Dermatological Disease
          1. By Value
        8. Others
          1. By Value
      2. By Specialty
        1. Introduction
          1. Specialty By Value
        2. Molecular Genetic Tests
          1. By Value
        3. Chromosomal Genetic Tests
          1. By Value
        4. Biochemical Genetic Tests
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Sanger Sequencing
          1. By Value
        4. PCR Based Testing
          1. By Value
        5. Array Based Testing
          1. By Value
        6. FISH
          1. By Value
        7. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals and Clinics
          1. By Value
        3. Research Laboratories and CROs
          1. By Value
        4. Diagnostic Laboratories
          1. By Value
    7. Canada
    1. Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    6. U.K.
      1. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Immunological Disorders
          1. By Value
        3. Cardiovascular Disorders
          1. By Value
        4. Neurological Disease
          1. By Value
        5. Endocrine and Metabolism Disorders Diseases
          1. By Value
        6. Hematological Diseases
          1. By Value
        7. Dermatological Disease
          1. By Value
        8. Others
          1. By Value
      2. By Specialty
        1. Introduction
          1. Specialty By Value
        2. Molecular Genetic Tests
          1. By Value
        3. Chromosomal Genetic Tests
          1. By Value
        4. Biochemical Genetic Tests
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Sanger Sequencing
          1. By Value
        4. PCR Based Testing
          1. By Value
        5. Array Based Testing
          1. By Value
        6. FISH
          1. By Value
        7. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals and Clinics
          1. By Value
        3. Research Laboratories and CROs
          1. By Value
        4. Diagnostic Laboratories
          1. By Value
    7. Germany
    8. France
    9. Spain
    10. Italy
    11. Russia
    12. Nordic
    13. Benelux
    14. Rest of Europe
    1. Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    6. China
      1. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Immunological Disorders
          1. By Value
        3. Cardiovascular Disorders
          1. By Value
        4. Neurological Disease
          1. By Value
        5. Endocrine and Metabolism Disorders Diseases
          1. By Value
        6. Hematological Diseases
          1. By Value
        7. Dermatological Disease
          1. By Value
        8. Others
          1. By Value
      2. By Specialty
        1. Introduction
          1. Specialty By Value
        2. Molecular Genetic Tests
          1. By Value
        3. Chromosomal Genetic Tests
          1. By Value
        4. Biochemical Genetic Tests
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Sanger Sequencing
          1. By Value
        4. PCR Based Testing
          1. By Value
        5. Array Based Testing
          1. By Value
        6. FISH
          1. By Value
        7. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals and Clinics
          1. By Value
        3. Research Laboratories and CROs
          1. By Value
        4. Diagnostic Laboratories
          1. By Value
    7. Korea
    8. Japan
    9. India
    10. Australia
    11. Taiwan
    12. South East Asia
    13. Rest of Asia-Pacific
    1. Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    6. UAE
      1. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Immunological Disorders
          1. By Value
        3. Cardiovascular Disorders
          1. By Value
        4. Neurological Disease
          1. By Value
        5. Endocrine and Metabolism Disorders Diseases
          1. By Value
        6. Hematological Diseases
          1. By Value
        7. Dermatological Disease
          1. By Value
        8. Others
          1. By Value
      2. By Specialty
        1. Introduction
          1. Specialty By Value
        2. Molecular Genetic Tests
          1. By Value
        3. Chromosomal Genetic Tests
          1. By Value
        4. Biochemical Genetic Tests
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Sanger Sequencing
          1. By Value
        4. PCR Based Testing
          1. By Value
        5. Array Based Testing
          1. By Value
        6. FISH
          1. By Value
        7. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals and Clinics
          1. By Value
        3. Research Laboratories and CROs
          1. By Value
        4. Diagnostic Laboratories
          1. By Value
    7. Turkey
    8. Saudi Arabia
    9. South Africa
    10. Egypt
    11. Nigeria
    12. Rest of MEA
    1. Introduction
    2. By Disease Type
      1. Introduction
        1. Disease Type By Value
      2. Immunological Disorders
        1. By Value
      3. Cardiovascular Disorders
        1. By Value
      4. Neurological Disease
        1. By Value
      5. Endocrine and Metabolism Disorders Diseases
        1. By Value
      6. Hematological Diseases
        1. By Value
      7. Dermatological Disease
        1. By Value
      8. Others
        1. By Value
    3. By Specialty
      1. Introduction
        1. Specialty By Value
      2. Molecular Genetic Tests
        1. By Value
      3. Chromosomal Genetic Tests
        1. By Value
      4. Biochemical Genetic Tests
        1. By Value
    4. By Technology
      1. Introduction
        1. Technology By Value
      2. Next-Generation Sequencing
        1. By Value
      3. Sanger Sequencing
        1. By Value
      4. PCR Based Testing
        1. By Value
      5. Array Based Testing
        1. By Value
      6. FISH
        1. By Value
      7. Others
        1. By Value
    5. By End-User
      1. Introduction
        1. End-User By Value
      2. Hospitals and Clinics
        1. By Value
      3. Research Laboratories and CROs
        1. By Value
      4. Diagnostic Laboratories
        1. By Value
    6. Brazil
      1. By Disease Type
        1. Introduction
          1. Disease Type By Value
        2. Immunological Disorders
          1. By Value
        3. Cardiovascular Disorders
          1. By Value
        4. Neurological Disease
          1. By Value
        5. Endocrine and Metabolism Disorders Diseases
          1. By Value
        6. Hematological Diseases
          1. By Value
        7. Dermatological Disease
          1. By Value
        8. Others
          1. By Value
      2. By Specialty
        1. Introduction
          1. Specialty By Value
        2. Molecular Genetic Tests
          1. By Value
        3. Chromosomal Genetic Tests
          1. By Value
        4. Biochemical Genetic Tests
          1. By Value
      3. By Technology
        1. Introduction
          1. Technology By Value
        2. Next-Generation Sequencing
          1. By Value
        3. Sanger Sequencing
          1. By Value
        4. PCR Based Testing
          1. By Value
        5. Array Based Testing
          1. By Value
        6. FISH
          1. By Value
        7. Others
          1. By Value
      4. By End-User
        1. Introduction
          1. End-User By Value
        2. Hospitals and Clinics
          1. By Value
        3. Research Laboratories and CROs
          1. By Value
        4. Diagnostic Laboratories
          1. By Value
    7. Mexico
    8. Argentina
    9. Chile
    10. Colombia
    11. Rest of LATAM
    1. Rare Disease Genetic Testing Market Share By Players
    2. M&A Agreements & Collaboration Analysis
    1. Quest Diagnostics Inc.
      1. Overview
      2. Business Information
      3. Revenue
      4. ASP
      5. SWOT Analysis
      6. Recent Developments
    2. Centogene N.V.
    3. 3billion Inc.
    4. Invitae Corp.
    5. Arup Laboratories
    6. Eurofins Scientific
    7. Ambry Genetics
    8. Strand Life Sciences
    9. Perkin Elmer, Inc.
    10. Health Network Laboratories
    11. Opko Health, Inc.
    1. Research Data
      1. Secondary Data
        1. Major secondary sources
        2. Key data from secondary sources
      2. Primary Data
        1. Key data from primary sources
        2. Breakdown of primaries
      3. Secondary And Primary Research
        1. Key industry insights
    2. Market Size Estimation
      1. Bottom-Up Approach
      2. Top-Down Approach
      3. Market Projection
    3. Research Assumptions
      1. Assumptions
    4. Limitations
    5. Risk Assessment
    1. Discussion Guide
    2. Customization Options
    3. Related Reports
  3. Disclaimer

Available for purchase with detailed segment data, forecasts, and regional insights.

Get This Report

Download Free Sample

Note: Please ensure you provide an active email address as we will be sending sample details via email.
The button will be active once the above form is filled

Our Clients:

LG Electronics
AMCAD Engineering
KOBE STEEL LTD.
Hindustan National Glass & Industries Limited
Voith Group
International Paper
Hansol Paper
Whirlpool Corporation
Sony
Samsung Electronics
Qualcomm
Google
Fiserv
Veto-Pharma
Nippon Becton Dickinson
Merck
Argon Medical Devices
Abbott
Ajinomoto
Denon
Doosan
Meiji Seika Kaisha Ltd
LG Chemicals
LCY chemical group
Bayer
Airrane
BASF
Toyota Industries
Nissan Motors
Neenah
Mitsubishi
Hyundai Motor Company

We are featured on :