As new data rapidly emerges, it can be difficult to keep genetic lab tests up to date. Also, it can be hard for labs to balance the need to deliver all relevant genetic information while operating within real-world constraints. This webinar will present the relevant genetic information needed in three common carrier screening genes (CFTR, SMN1/2, and FMR1), as well as how AmplideX assays provides this information with simple, complementary workflows made for real-world use.

Learning Objectives:

• Identify value of reporting all relevant genetic information important for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
• Recognize that critical genetic information is not routinely provided by all assays, due to their designs being based on outdated data or technology limitations
• Explain how the AmplideX trio of assays provides relevant genetic information with complementary workflows

Content of the AmplideX PCR/CE CFTR Kit panel has been updated since this webinar was recorded.

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 Outdated, ethnically-homogeneous data has historically informed CFTR panel designs, leading to inequitable testing for some ancestries.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

*For Research Use Only. Not for use in diagnostic procedures.

Content of the AmplideX PCR/CE CFTR Kit panel has been updated since this webinar was recorded.