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Rare Disease Genetic Testing Market

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, 2023-2031

Report Code: SRHI54770DR
Study Period 2019-2031 CAGR 9.1%
Historical Period 2019-2021 Forecast Period 2023-2031
Base Year 2022 Base Year Market Size USD 928.15 Million
Forecast Year 2031 Forecast Year Market Size USD 2032.22 Million
Largest Market North America Fastest Growing Market Europe
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Market Segmentation

  1. Rare Disease Genetic Testing Market, By Disease Type (2021-2031)
    1. Immunological Disorders
    2. Cardiovascular Disorders
    3. Neurological Disease
    4. Endocrine and Metabolism Disorders Diseases
    5. Hematological Diseases
    6. Dermatological Disease
    7. Others
  2. Rare Disease Genetic Testing Market, By Specialty (2021-2031)
    1. Molecular Genetic Tests
    2. Chromosomal Genetic Tests
    3. Biochemical Genetic Tests
  3. Rare Disease Genetic Testing Market, By Technology (2021-2031)
    1. Next-Generation Sequencing
    2. Sanger Sequencing
    3. PCR Based Testing
    4. Array Based Testing
    5. FISH
    6. Others
  4. Rare Disease Genetic Testing Market, By End-User (2021-2031)
    1. Hospitals and Clinics
    2. Research Laboratories and CROs
    3. Diagnostic Laboratories
    1. North America
      1. North America Rare Disease Genetic Testing Market, By Disease Type
        1. Immunological Disorders
          1. Cardiovascular Disorders
            1. Neurological Disease
              1. Endocrine and Metabolism Disorders Diseases
                1. Hematological Diseases
                  1. Dermatological Disease
                    1. Others
                    2. North America Rare Disease Genetic Testing Market, By Specialty
                      1. Molecular Genetic Tests
                        1. Chromosomal Genetic Tests
                          1. Biochemical Genetic Tests
                          2. North America Rare Disease Genetic Testing Market, By Technology
                            1. Next-Generation Sequencing
                              1. Sanger Sequencing
                                1. PCR Based Testing
                                  1. Array Based Testing
                                    1. FISH
                                      1. Others
                                      2. North America Rare Disease Genetic Testing Market, By End-User
                                        1. Hospitals and Clinics
                                          1. Research Laboratories and CROs
                                            1. Diagnostic Laboratories
                                            2. U.S.
                                              1. U.S. Rare Disease Genetic Testing Market, By Disease Type
                                                1. Immunological Disorders
                                                  1. Cardiovascular Disorders
                                                    1. Neurological Disease
                                                      1. Endocrine and Metabolism Disorders Diseases
                                                        1. Hematological Diseases
                                                          1. Dermatological Disease
                                                            1. Others
                                                            2. U.S. Rare Disease Genetic Testing Market, By Specialty
                                                              1. Molecular Genetic Tests
                                                                1. Chromosomal Genetic Tests
                                                                  1. Biochemical Genetic Tests
                                                                  2. U.S. Rare Disease Genetic Testing Market, By Technology
                                                                    1. Next-Generation Sequencing
                                                                      1. Sanger Sequencing
                                                                        1. PCR Based Testing
                                                                          1. Array Based Testing
                                                                            1. FISH
                                                                              1. Others
                                                                              2. U.S. Rare Disease Genetic Testing Market, By End-User
                                                                                1. Hospitals and Clinics
                                                                                  1. Research Laboratories and CROs
                                                                                    1. Diagnostic Laboratories
                                                                                  2. Canada
                                                                                2. Europe
                                                                                  1. Europe Rare Disease Genetic Testing Market, By Disease Type
                                                                                    1. Immunological Disorders
                                                                                      1. Cardiovascular Disorders
                                                                                        1. Neurological Disease
                                                                                          1. Endocrine and Metabolism Disorders Diseases
                                                                                            1. Hematological Diseases
                                                                                              1. Dermatological Disease
                                                                                                1. Others
                                                                                                2. Europe Rare Disease Genetic Testing Market, By Specialty
                                                                                                  1. Molecular Genetic Tests
                                                                                                    1. Chromosomal Genetic Tests
                                                                                                      1. Biochemical Genetic Tests
                                                                                                      2. Europe Rare Disease Genetic Testing Market, By Technology
                                                                                                        1. Next-Generation Sequencing
                                                                                                          1. Sanger Sequencing
                                                                                                            1. PCR Based Testing
                                                                                                              1. Array Based Testing
                                                                                                                1. FISH
                                                                                                                  1. Others
                                                                                                                  2. Europe Rare Disease Genetic Testing Market, By End-User
                                                                                                                    1. Hospitals and Clinics
                                                                                                                      1. Research Laboratories and CROs
                                                                                                                        1. Diagnostic Laboratories
                                                                                                                        2. U.K.
                                                                                                                          1. U.K. Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                            1. Immunological Disorders
                                                                                                                              1. Cardiovascular Disorders
                                                                                                                                1. Neurological Disease
                                                                                                                                  1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                    1. Hematological Diseases
                                                                                                                                      1. Dermatological Disease
                                                                                                                                        1. Others
                                                                                                                                        2. U.K. Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                          1. Molecular Genetic Tests
                                                                                                                                            1. Chromosomal Genetic Tests
                                                                                                                                              1. Biochemical Genetic Tests
                                                                                                                                              2. U.K. Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                1. Next-Generation Sequencing
                                                                                                                                                  1. Sanger Sequencing
                                                                                                                                                    1. PCR Based Testing
                                                                                                                                                      1. Array Based Testing
                                                                                                                                                        1. FISH
                                                                                                                                                          1. Others
                                                                                                                                                          2. U.K. Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                            1. Hospitals and Clinics
                                                                                                                                                              1. Research Laboratories and CROs
                                                                                                                                                                1. Diagnostic Laboratories
                                                                                                                                                              2. Germany
                                                                                                                                                              3. France
                                                                                                                                                              4. Spain
                                                                                                                                                              5. Italy
                                                                                                                                                              6. Russia
                                                                                                                                                              7. Nordic
                                                                                                                                                              8. Benelux
                                                                                                                                                              9. Rest of Europe
                                                                                                                                                            2. APAC
                                                                                                                                                              1. APAC Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                1. Immunological Disorders
                                                                                                                                                                  1. Cardiovascular Disorders
                                                                                                                                                                    1. Neurological Disease
                                                                                                                                                                      1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                        1. Hematological Diseases
                                                                                                                                                                          1. Dermatological Disease
                                                                                                                                                                            1. Others
                                                                                                                                                                            2. APAC Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                              1. Molecular Genetic Tests
                                                                                                                                                                                1. Chromosomal Genetic Tests
                                                                                                                                                                                  1. Biochemical Genetic Tests
                                                                                                                                                                                  2. APAC Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                    1. Next-Generation Sequencing
                                                                                                                                                                                      1. Sanger Sequencing
                                                                                                                                                                                        1. PCR Based Testing
                                                                                                                                                                                          1. Array Based Testing
                                                                                                                                                                                            1. FISH
                                                                                                                                                                                              1. Others
                                                                                                                                                                                              2. APAC Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                1. Hospitals and Clinics
                                                                                                                                                                                                  1. Research Laboratories and CROs
                                                                                                                                                                                                    1. Diagnostic Laboratories
                                                                                                                                                                                                    2. China
                                                                                                                                                                                                      1. China Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                                                        1. Immunological Disorders
                                                                                                                                                                                                          1. Cardiovascular Disorders
                                                                                                                                                                                                            1. Neurological Disease
                                                                                                                                                                                                              1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                                                                1. Hematological Diseases
                                                                                                                                                                                                                  1. Dermatological Disease
                                                                                                                                                                                                                    1. Others
                                                                                                                                                                                                                    2. China Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                                                                      1. Molecular Genetic Tests
                                                                                                                                                                                                                        1. Chromosomal Genetic Tests
                                                                                                                                                                                                                          1. Biochemical Genetic Tests
                                                                                                                                                                                                                          2. China Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                                                            1. Next-Generation Sequencing
                                                                                                                                                                                                                              1. Sanger Sequencing
                                                                                                                                                                                                                                1. PCR Based Testing
                                                                                                                                                                                                                                  1. Array Based Testing
                                                                                                                                                                                                                                    1. FISH
                                                                                                                                                                                                                                      1. Others
                                                                                                                                                                                                                                      2. China Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                                                        1. Hospitals and Clinics
                                                                                                                                                                                                                                          1. Research Laboratories and CROs
                                                                                                                                                                                                                                            1. Diagnostic Laboratories
                                                                                                                                                                                                                                          2. Korea
                                                                                                                                                                                                                                          3. Japan
                                                                                                                                                                                                                                          4. India
                                                                                                                                                                                                                                          5. Australia
                                                                                                                                                                                                                                          6. Taiwan
                                                                                                                                                                                                                                          7. South East Asia
                                                                                                                                                                                                                                          8. Rest of Asia-Pacific
                                                                                                                                                                                                                                        2. Middle East and Africa
                                                                                                                                                                                                                                          1. Middle East and Africa Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                                                                                            1. Immunological Disorders
                                                                                                                                                                                                                                              1. Cardiovascular Disorders
                                                                                                                                                                                                                                                1. Neurological Disease
                                                                                                                                                                                                                                                  1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                                                                                                    1. Hematological Diseases
                                                                                                                                                                                                                                                      1. Dermatological Disease
                                                                                                                                                                                                                                                        1. Others
                                                                                                                                                                                                                                                        2. Middle East and Africa Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                                                                                                          1. Molecular Genetic Tests
                                                                                                                                                                                                                                                            1. Chromosomal Genetic Tests
                                                                                                                                                                                                                                                              1. Biochemical Genetic Tests
                                                                                                                                                                                                                                                              2. Middle East and Africa Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                                                                                                1. Next-Generation Sequencing
                                                                                                                                                                                                                                                                  1. Sanger Sequencing
                                                                                                                                                                                                                                                                    1. PCR Based Testing
                                                                                                                                                                                                                                                                      1. Array Based Testing
                                                                                                                                                                                                                                                                        1. FISH
                                                                                                                                                                                                                                                                          1. Others
                                                                                                                                                                                                                                                                          2. Middle East and Africa Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                                                                                            1. Hospitals and Clinics
                                                                                                                                                                                                                                                                              1. Research Laboratories and CROs
                                                                                                                                                                                                                                                                                1. Diagnostic Laboratories
                                                                                                                                                                                                                                                                                2. UAE
                                                                                                                                                                                                                                                                                  1. UAE Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                                                                                                                                    1. Immunological Disorders
                                                                                                                                                                                                                                                                                      1. Cardiovascular Disorders
                                                                                                                                                                                                                                                                                        1. Neurological Disease
                                                                                                                                                                                                                                                                                          1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                                                                                                                                            1. Hematological Diseases
                                                                                                                                                                                                                                                                                              1. Dermatological Disease
                                                                                                                                                                                                                                                                                                1. Others
                                                                                                                                                                                                                                                                                                2. UAE Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                                                                                                                                                  1. Molecular Genetic Tests
                                                                                                                                                                                                                                                                                                    1. Chromosomal Genetic Tests
                                                                                                                                                                                                                                                                                                      1. Biochemical Genetic Tests
                                                                                                                                                                                                                                                                                                      2. UAE Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                                                                                                                                        1. Next-Generation Sequencing
                                                                                                                                                                                                                                                                                                          1. Sanger Sequencing
                                                                                                                                                                                                                                                                                                            1. PCR Based Testing
                                                                                                                                                                                                                                                                                                              1. Array Based Testing
                                                                                                                                                                                                                                                                                                                1. FISH
                                                                                                                                                                                                                                                                                                                  1. Others
                                                                                                                                                                                                                                                                                                                  2. UAE Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                                                                                                                                    1. Hospitals and Clinics
                                                                                                                                                                                                                                                                                                                      1. Research Laboratories and CROs
                                                                                                                                                                                                                                                                                                                        1. Diagnostic Laboratories
                                                                                                                                                                                                                                                                                                                      2. Turkey
                                                                                                                                                                                                                                                                                                                      3. Saudi Arabia
                                                                                                                                                                                                                                                                                                                      4. South Africa
                                                                                                                                                                                                                                                                                                                      5. Egypt
                                                                                                                                                                                                                                                                                                                      6. Nigeria
                                                                                                                                                                                                                                                                                                                      7. Rest of MEA
                                                                                                                                                                                                                                                                                                                    2. LATAM
                                                                                                                                                                                                                                                                                                                      1. LATAM Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                                                                                                                                                                        1. Immunological Disorders
                                                                                                                                                                                                                                                                                                                          1. Cardiovascular Disorders
                                                                                                                                                                                                                                                                                                                            1. Neurological Disease
                                                                                                                                                                                                                                                                                                                              1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                                                                                                                                                                                1. Hematological Diseases
                                                                                                                                                                                                                                                                                                                                  1. Dermatological Disease
                                                                                                                                                                                                                                                                                                                                    1. Others
                                                                                                                                                                                                                                                                                                                                    2. LATAM Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                                                                                                                                                                                      1. Molecular Genetic Tests
                                                                                                                                                                                                                                                                                                                                        1. Chromosomal Genetic Tests
                                                                                                                                                                                                                                                                                                                                          1. Biochemical Genetic Tests
                                                                                                                                                                                                                                                                                                                                          2. LATAM Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                                                                                                                                                                            1. Next-Generation Sequencing
                                                                                                                                                                                                                                                                                                                                              1. Sanger Sequencing
                                                                                                                                                                                                                                                                                                                                                1. PCR Based Testing
                                                                                                                                                                                                                                                                                                                                                  1. Array Based Testing
                                                                                                                                                                                                                                                                                                                                                    1. FISH
                                                                                                                                                                                                                                                                                                                                                      1. Others
                                                                                                                                                                                                                                                                                                                                                      2. LATAM Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                                                                                                                                                                        1. Hospitals and Clinics
                                                                                                                                                                                                                                                                                                                                                          1. Research Laboratories and CROs
                                                                                                                                                                                                                                                                                                                                                            1. Diagnostic Laboratories
                                                                                                                                                                                                                                                                                                                                                            2. Brazil
                                                                                                                                                                                                                                                                                                                                                              1. Brazil Rare Disease Genetic Testing Market, By Disease Type
                                                                                                                                                                                                                                                                                                                                                                1. Immunological Disorders
                                                                                                                                                                                                                                                                                                                                                                  1. Cardiovascular Disorders
                                                                                                                                                                                                                                                                                                                                                                    1. Neurological Disease
                                                                                                                                                                                                                                                                                                                                                                      1. Endocrine and Metabolism Disorders Diseases
                                                                                                                                                                                                                                                                                                                                                                        1. Hematological Diseases
                                                                                                                                                                                                                                                                                                                                                                          1. Dermatological Disease
                                                                                                                                                                                                                                                                                                                                                                            1. Others
                                                                                                                                                                                                                                                                                                                                                                            2. Brazil Rare Disease Genetic Testing Market, By Specialty
                                                                                                                                                                                                                                                                                                                                                                              1. Molecular Genetic Tests
                                                                                                                                                                                                                                                                                                                                                                                1. Chromosomal Genetic Tests
                                                                                                                                                                                                                                                                                                                                                                                  1. Biochemical Genetic Tests
                                                                                                                                                                                                                                                                                                                                                                                  2. Brazil Rare Disease Genetic Testing Market, By Technology
                                                                                                                                                                                                                                                                                                                                                                                    1. Next-Generation Sequencing
                                                                                                                                                                                                                                                                                                                                                                                      1. Sanger Sequencing
                                                                                                                                                                                                                                                                                                                                                                                        1. PCR Based Testing
                                                                                                                                                                                                                                                                                                                                                                                          1. Array Based Testing
                                                                                                                                                                                                                                                                                                                                                                                            1. FISH
                                                                                                                                                                                                                                                                                                                                                                                              1. Others
                                                                                                                                                                                                                                                                                                                                                                                              2. Brazil Rare Disease Genetic Testing Market, By End-User
                                                                                                                                                                                                                                                                                                                                                                                                1. Hospitals and Clinics
                                                                                                                                                                                                                                                                                                                                                                                                  1. Research Laboratories and CROs
                                                                                                                                                                                                                                                                                                                                                                                                    1. Diagnostic Laboratories
                                                                                                                                                                                                                                                                                                                                                                                                  2. Mexico
                                                                                                                                                                                                                                                                                                                                                                                                  3. Argentina
                                                                                                                                                                                                                                                                                                                                                                                                  4. Chile
                                                                                                                                                                                                                                                                                                                                                                                                  5. Colombia
                                                                                                                                                                                                                                                                                                                                                                                                  6. Rest of LATAM

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