JAN 20, 2022 11:00 AM EST

Practical CFTR Testing To Address Coverage Gaps with the AmplideX® PCR/CE CFTR Kit*

C.E. Credits: P.A.C.E. CE Florida CE
Speaker

Abstract

Could your CFTR assay be missing carriers? What if it is missing people of certain genetic ancestries disproportionately? Outdated, ethnically-homogeneous data has historically informed CFTR panel designs, leading to inequitable testing for some ancestries. Learn how recent large-scale diverse population studies provide a greater understanding of the diversity of CFTR variants and how this data has informed the AmplideX PCR/CE CFTR Kit* design to provide the broadest coverage of any targeted CFTR testing kit.

 

Learning Objectives:

  • Report how recent, large-scale population studies have revealed the broad diversity of CFTR mutations within the U.S. population, far beyond the representation of the ~95% Caucasian CFTR2 database
  • Recognize that many existing panels may be putting certain populations at risk of false-negative results by overlooking specific variants
  • Explain how the AmplideX PCR/CE CFTR Kit* was designed to provide the broadest coverage of any targeted CFTR testing kit based on new data from diverse population studies, while still providing results in a practical and efficient workflow

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