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:
PCT Pat: 8,603,745 issued 2013-12-10
US Application No. 60/552,979 filed on 2004-03-11
US Application No. 10/598,589 filed on 2006-09-05
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