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Evaluation of a BeadXpress Assay for a 151-Mutation and Variant CFTR Screening Panel After 11,000 Samples: Implications for Practice

Stoerker, Jay PhD; Goodman, Thomas G. MS; Walline, Heather M. MS; Sugalski, Jeffrey II MS; Holland, Carol A. PhD

doi: 10.1097/PDM.0b013e318286b4c0
Original Articles

We created a 151-mutation and variant screening panel for cystic fibrosis transmembrane regulator (CFTR) using the Illumina Inc. BeadXpress platform (San Diego, CA). The laboratory developed test was validated using a third-party blinding of a set of 450 samples split with an authority laboratory that provides a large panel CFTR screening and 50 diverse controls admixed randomly. The validation proved the test to be 100% sensitive for the mutations tested and >99% specific. A total of 391 mutations in 11,186 samples tested were confirmed by repeat analysis and sequencing, resulting in an overall confirmed positive rate of 3.5%. Of the mutations detected, 348 were part of the American College of Obstetrics and Gynecology (ACOG) panel (89%) and 43 were non-ACOG (11%). A total of 16 of the 23 ACOG panel mutations were discovered in this cohort, along with 21 different non-ACOG mutation genotypes. We confirmed 6 total patients carrying mutations that would not have been identified by any other commercial panel. The role of a large genotyping panel in carrier screening is discussed relative to the ACOG panel and also in relation to comparative efficacy with targeted massive parallel sequencing.

aMDx Laboratory Sciences, Ann Arbor, MI

The authors are all employed by aMDx Laboratory Sciences, Ann Arbor, MI.

Reprints: Jay Stoerker, PhD, aMDx Laboratory Sciences, 2245 S State Street Ann Arbor, MI 48103 (e-mail:

© 2013 by Lippincott Williams & Wilkins.