Generation of Artificial Mutation Controls for Diagnostic Testing


This technology relates to a method of generating artificial compositions that can be used as positive controls in a genetic testing assay, such as a diagnostic assay for a particular genetic disease. Such controls can be used to confirm the presence or absence of a particular genetic mutation. The lack of easily accessible, validated mutant controls has proven to be a major obstacle to the advancement of clinical molecular genetic testing, validation, quality control (QC), quality assurance (QA), and required proficiency testing. This method provides a consistent and renewable source of positive control material, as well as an alternative to patient-derived mutation-positive samples.

Potential Commercial Applications: Competitive Advantages:
  • Generation of positive controls for molecular genetic tests, particularly for tests to detect cystic fibrosis
 
  • Positive controls can be included in new kits or packaged with pre-existing assays
  • Increased accuracy in diagnosis compared to current controls
  • Consistent and renewable source for high-quality controls containing mutations of interest


Development Stage:
  • Early-stage
  • In vitro data available


  • Inventors:

    Laurina Williams (CDC)  ➽ more inventions...


    Intellectual Property:
    U.S. Pat: 8,603,745 issued 2013-12-10
    US Application No. 60/552,979
    US Application No. 10/598,589
    Various international patent applications pending or issued.

    Licensing Contact:
    Karen Surabian, J.D., M.B.A.
    Email: karen.surabian@nih.gov
    Phone: 301-594-9719

    OTT Reference No: E-255-2013/0
    Updated: May 24, 2016