Rare Disease Genetic Testing Market Size, Share & Trends Report

Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report By Disease Type (Neurological, CVDs), By Specialty (Molecular, Biochemical), By Technology (NGS, PCR-based), By End Use, And Segment Forecasts, 2023 - 2030

  • Report ID: GVR-4-68038-695-0
  • Number of Pages: 150
  • Format: Electronic (PDF)
  • Historical Range: 2019 - 2021
  • Industry: Healthcare

Market Segmentation

  • Rare Disease Genetic Testing Disease Type Outlook (Revenue, USD Million, 2022 - 2030)
    • Neurological Disorders
    • Immunological Disorders
    • Hematology Diseases
    • Endocrine & Metabolism Diseases
    • Cancer
    • Musculoskeletal Disorders
    • Cardiovascular Disorders
    • Dermatology Disease
    • Others
  • Rare Disease Genetic Testing Technology Outlook (Revenue, USD Million, 2022 - 2030)
    • Next Generation Sequencing
      • Whole Exome Sequencing
      • Whole Genome Sequencing
    • Array Technology
    • PCR-based Testing
    • FISH
    • Sanger Sequencing
    • Karyotyping
  • Rare Disease Genetic Testing Specialty Outlook (Revenue, USD Million, 2022 - 2030)
    • Molecular Genetic Tests
    • Chromosomal Genetic Tests
    • Biochemical Genetic Tests
  • Rare Disease Genetic Testing End-use Outlook (Revenue, USD Million, 2022 - 2030)
    • Research Laboratories & CROs
    • Hospitals & Clinics
    • Diagnostic Laboratories
  • Rare Disease Genetic Testing Regional Outlook (Revenue, USD Million, 2022 - 2030)
    • North America
      • NA Rare Disease Genetic Testing Market, By Disease Type
        • Neurological Disorders
        • Immunological Disorders
        • Hematology Diseases
        • Endocrine & Metabolism Diseases
        • Cancer
        • Musculoskeletal Disorders
        • Cardiovascular Disorders
        • Dermatology Disease
        • Others
      • NA Rare Disease Genetic Testing Market, By Technology
        • Next Generation Sequencing
          • Whole Exome Sequencing
          • Whole Genome Sequencing
        • Array Technology
        • PCR-based Testing
        • FISH
        • Sanger Sequencing
        • Karyotyping       
      • NA Rare Disease Genetic Testing Market, By Specialty
        • Molecular Genetic Tests
        • Chromosomal Genetic Tests
        • Biochemical Genetic Tests          
      • NA Rare Disease Genetic Testing Market, By End-use
        • Research Laboratories & CROs
        • Hospitals & Clinics
        • Diagnostic Laboratories
      • U.S.
        • U.S. Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • U.S. Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping       
        • U.S. Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • U.S. Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • Canada
        • Canada Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Canada Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • Canada Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Canada Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
    • Europe
      • EU Rare Disease Genetic Testing Market, By Disease Type
        • Neurological Disorders
        • Immunological Disorders
        • Hematology Diseases
        • Endocrine & Metabolism Diseases
        • Cancer
        • Musculoskeletal Disorders
        • Cardiovascular Disorders
        • Dermatology Disease
        • Others
      • EU Rare Disease Genetic Testing Market, By Technology
        • Next Generation Sequencing
          • Whole Exome Sequencing
          • Whole Genome Sequencing
        • Array Technology
        • PCR-based Testing
        • FISH
        • Sanger Sequencing
        • Karyotyping          
      • EU Rare Disease Genetic Testing Market, By Specialty
        • Molecular Genetic Tests
        • Chromosomal Genetic Test
        • Biochemical Genetic Tests          
      • EU Rare Disease Genetic Testing Market, By End-use
        • Research Laboratories & CROs
        • Hospitals & Clinics
        • Diagnostic Laboratories
      • Germany
        • Germany Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Germany Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • Germany Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Germany Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • U.K.
        • U.K. Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • U.K. Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping       
        • U.K. Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
          • U.K. Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • France
        • France Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • France Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • France Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • France Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • Italy
        • Italy Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Italy Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • Italy Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Italy Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • Spain
        • Spain Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders]
          • Dermatology Disease
          • Others
        • Spain Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping
        • Spain Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Spain Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • The Netherlands
        • The Netherlands Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • The Netherlands Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping
        • The Netherlands Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • The Netherlands Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
    • Asia Pacific
      • APAC Rare Disease Genetic Testing Market, By Disease Type
        • Neurological Disorders
        • Immunological Disorders
        • Hematology Diseases
        • Endocrine & Metabolism Diseases
        • Cancer
        • Musculoskeletal Disorders
        • Cardiovascular Disorders
        • Dermatology Disease
        • Others
      • APAC Rare Disease Genetic Testing Market, By Technology
        • Next Generation Sequencing
          • Whole Exome Sequencing
          • Whole Genome Sequencing
        • Array Technology
        • PCR-based Testing
        • FISH
        • Sanger Sequencing
        • Karyotyping 
      • APAC Rare Disease Genetic Testing Market, By Specialty
        • Molecular Genetic Tests
        • Chromosomal Genetic Tests
        • Biochemical Genetic Tests          
      • APAC Rare Disease Genetic Testing Market, By End-use
        • Research Laboratories & CROs
        • Hospitals & Clinics
        • Diagnostic Laboratories
      • Japan
        • Japan Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Japan Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping
        • Japan Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Japan Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • China
        • China Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • China Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping
        • China Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • China Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • India
        • India Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • India Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • India Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • India Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • South Korea
        • South Korea Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • South Korea Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping 
        • South Korea Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • South Korea Rare Disease Genetic Testing Market, By End-us
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • Australia
        • Australia Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Australia Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • Australia Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Australia Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • Singapore
        • Singapore Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Singapore Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping
        • Singapore Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Singapore Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
      • South East Asia
        • South East Asia Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • South East Asia Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping     
        • South East Asia Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • South East Asia Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
    • Latin America
      • LATAM Rare Disease Genetic Testing Market, By Disease Type
        • Neurological Disorders
        • Immunological Disorders
        • Hematology Diseases
        • Endocrine & Metabolism Diseases
        • Cancer
        • Musculoskeletal Disorders
        • Cardiovascular Disorders
        • Dermatology Disease
        • Others
      • LATAM Rare Disease Genetic Testing Market, By Technology
        • Next Generation Sequencing
          • Whole Exome Sequencing
          • Whole Genome Sequencing
        • Array Technology
        • PCR-based Testing
        • FISH
        • Sanger Sequencing
        • Karyotyping  
      • LATAM Rare Disease Genetic Testing Market, By Specialty
        • Molecular Genetic Tests
        • Chromosomal Genetic Tests
        • Biochemical Genetic Tests          
      • LATAM Rare Disease Genetic Testing Market, By End-use
        • Research Laboratories & CROs
        • Hospitals & Clinics
        • Diagnostic Laboratories
      • Brazil
        • Brazil Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • Brazil Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping 
        • Brazil Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • Brazil Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories
    • MEA
      • MEA Rare Disease Genetic Testing Market, By Disease Type
        • Neurological Disorders
        • Immunological Disorders
        • Hematology Diseases
        • Endocrine & Metabolism Diseases
        • Cancer
        • Musculoskeletal Disorders
        • Cardiovascular Disorders
        • Dermatology Disease
        • Others
      • MEA Rare Disease Genetic Testing Market, By Technology
        • Next Generation Sequencing
          • Whole Exome Sequencing
          • Whole Genome Sequencing
        • Array Technology
        • PCR-based Testing
        • FISH
        • Sanger Sequencing
        • Karyotyping     
      • MEA Rare Disease Genetic Testing Market, By Specialty
        • Molecular Genetic Tests
        • Chromosomal Genetic Tests
        • Biochemical Genetic Tests          
      • MEA Rare Disease Genetic Testing Market, By End-use
        • Research Laboratories & CROs
        • Hospitals & Clinics
        • Diagnostic Laboratories
      • South Africa
        • South Africa Rare Disease Genetic Testing Market, By Disease Type
          • Neurological Disorders
          • Immunological Disorders
          • Hematology Diseases
          • Endocrine & Metabolism Diseases
          • Cancer
          • Musculoskeletal Disorders
          • Cardiovascular Disorders
          • Dermatology Disease
          • Others
        • South Africa Rare Disease Genetic Testing Market, By Technology
          • Next Generation Sequencing
            • Whole Exome Sequencing
            • Whole Genome Sequencing
          • Array Technology
          • PCR-based Testing
          • FISH
          • Sanger Sequencing
          • Karyotyping         
        • South Africa Rare Disease Genetic Testing Market, By Specialty
          • Molecular Genetic Tests
          • Chromosomal Genetic Tests
          • Biochemical Genetic Tests          
        • South Africa Rare Disease Genetic Testing Market, By End-use
          • Research Laboratories & CROs
          • Hospitals & Clinics
          • Diagnostic Laboratories

Report Content

Qualitative Analysis

  • Industry overview
  • Industry trends
  • Market drivers and restraints
  • Market size
  • Growth prospects
  • Porter’s analysis
  • PESTEL analysis
  • Key market opportunities prioritized
  • Competitive landscape
    • Company overview
    • Financial performance
    • Product benchmarking
    • Latest strategic developments

Quantitative Analysis

  • Market size, estimates, and forecast from 2022 to 2030
  • Market estimates and forecast for product segments up to 2030
  • Regional market size and forecast for product segments up to 2030
  • Market estimates and forecast for application segments up to 2030
  • Regional market size and forecast for application segments up to 2030
  • Company financial performance
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