Available Technology

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.
Patent Abstract: 
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.
Benefits 
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
applications 
Inventors: 
Laurina Williams
Patent Number: 
60/552,979 US Application No. 10/598,589 Various i
Internal Laboratory Ref #: 
E-255-2013/0
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