Technology Bundle ID: TAB-2623

Generation of Artificial Mutation Controls for Diagnostic Testing

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Licensing Contact:
Laurina Williams (CDC)
Development Stage: 
Pre-Clinical (in vitro)
Development Status: 
  • Early-stage
  • In vitro data available
  • Institute or Center: 

    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.

    • 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


    PCT Application PCT/US2005/008108
    Filed on 2005-03-11
    US Application 60/552,979
    Filed on 2004-03-11
    US Pat 8,603,745

    Issued 2013-12-10

    Various international patent applications pending or issued.


    Aug 23, 2013

    Data Source: