Meet Mayo Clinic
Mayo Clinic is an internationally renowned nonprofit organization dedicated to clinical practice, education and research, and whole-person care. The Clinic has major campuses in Rochester, Minn., Scottsdale and Phoenix, Ariz., and Jacksonville, Fla., as well as additional locations across the United States and internationally.
At the American Association for Clinical Chemistry (AACC) 2016 meeting, Mayo Clinic presented a poster on the use of a customized cystic fibrosis (CF) screening test using the Agena Bioscience® MassARRAY® System.
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The American College of Obstetrics and Gynecology (ACOG) and American College of Medical Genetics (ACMG) first recommended population-based carrier screening for CF using a 23-mutation panel. In years since, several experts have argued for expanded panels to test for additional mutations as they arise, especially for certain patient populations.
To further the detection of CF with increased sensitivity, Mayo Clinic decided to create, validate, and test the use of a custom screening panel for CF in association with Agena Bioscience.
The custom test from Agena Bioscience runs on the MassARRAY System, which features robust, user-friendly, and scalable solutions for a laboratory system as expansive as Mayo Clinic. The custom panel targets 106 mutations.
In the 123,172 tests analyzed in the poster presented at AACC 2016, 4,647 had one CF mutation identified – 3.8% carrier frequency. These results aligned with comparative tests using the Luminex 70+5 commercial assay and were aligned with published values.
As expected, the panel extended CFTR mutation detection by analyzing 106 mutations instead of the 23 mutations recommended by ACOG and ACMG. In the study, 10% of mutations found were outside of the ACMG/ACOG list, demonstrating the utility of expanded panels.
The test is extremely price competitive and efficient. The Mayo Clinic Genetics laboratory has tested more than 150,000 clinical samples since the creation of the panel.
See How the MassARRAY System Can Support Expanded Mutation Detection for CF
1. Holtegaard L and Highsmith E. A Laboratory Developed, 106 Mutation Cystic Fibrosis Carrier Screening Test Using the Agena MassARRAY: Performance in the First 123,000 Tests. Poster Presented at AACC 2016.