In vitro data available
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