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The Market for Inherited Disease Molecular Diagnostic Testing

The Market for Inherited Disease Molecular Diagnostic Testing

The detection of single nucleotide polymorphisms (SNPs) or gene variants from tissue, blood, urine and saliva samples can be used to diagnose inherited diseases and genetic disorders as well as determine the risk of disease manifestation or progression. Point mutations in genomic DNA occur when a single nucleotide (A,T,C, or G) sequence is altered. Many SNPs have no effect on cell function, but scientists believe others could predispose people to disease or influence their response to a drug. Although more than 99% of human DNA sequences are the same, variations in DNA sequence can have a major impact on how humans respond to disease, environmental factors (e.g. bacteria, viruses, toxins, and chemicals), and drugs or other therapies. Although a relatively stable area of clinical molecular testing, SNP analysis in patient pools and populations is an area of intense engagement in translational research. This report covers markets for testing for inherited diseases using molecular technologies such as NGS or PCR.


  • Executive Summary
    • Introduction
    • Molecular Diagnostic Technologies
    • Molecular Diagnostics in Healthcare
    • Global Molecular Diagnostics Market
    • Inherited Diseases Market.
      • Table Global Molecular Diagnostics Market in Inherited Diseases (2016-2021) - United States, Europe, Rest of World ($ millions)
    • Conclusions
  • Key Competitors in Inherited Disease Molecular Diagnostics
    • Ambry Genetics Corp.
    • Asuragen Inc.
    • GenMark Diagnostics
      • Table GenMark Diagnostics Revenue (2013-2016) ($ millions)
    • Illumina
      • Table Illumina Revenue (2013-2016) ($ millions)
      • Sequencing
      • Translational Research
      • Clinical Assay Development
      • Industry Lab-Developed Tests
      • Arrays
    • RainDance Technologies, Inc.
    • Roche Diagnostics
      • Table Roche Diagnostics Revenue (2013-2016) ($ millions)
      • Molecular Diagnostics
      • Blood Screening
      • Sequencing
      • Liquid Biopsy
      • Microbiology
    • Thermo Fisher Scientific
      • Table Thermo Fisher Scientific Revenue (2013-2016) ($ millions)
      • Transplant Diagnostics
      • qPCR
      • Sequencing
  • Molecular Diagnostics in Healthcare
    • Introduction
    • Reimbursement Environment for Molecular Diagnostics
    • Molecular Diagnostics and the Clinical Utility Standard
    • Laboratory-Developed Tests Are Here to Stay
    • Conclusions
  • Market for Molecular Diagnostics in Inherited Diseases
    • Market Analysis
      • Table Global Molecular Diagnostics Market in Inherited Diseases (2016-2021) - United States, Europe, Rest of World ($ millions)
      • Table Global Molecular Diagnostics Market in Inherited Diseases (2016) - United States, Europe, Rest of World ($ millions)
      • Table Global Molecular Diagnostics Market in Inherited Diseases (2016-2021) - United States, Europe, Rest of World ($ millions)
    • Thrombophilia and Coagulation Markers
    • Autism
    • Alzheimer's Disease
    • Cardiovascular Disease
    • Diabetes
    • Psychiatric Disorders
    • Gastrointestinal Conditions
    • Other Autoimmune Diseases
    • Conclusions

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