34th GfH Annual Conference 2023

Next Generation Sequencing: Changing the game in CFTR analysis

This whitepaper is authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. Stewart’s laboratory was one of few in the UK offering CFTR whole gene analysis by Sanger sequencing and has recently translated whole gene analysis to next generation sequencing.

• How NGS enables routine screening of all published CFTR mutations.
• Categories of CFTR mutations and interpretation of CFTR mutation data.
• What the future holds for CFTR diagnostics and targeted therapies.

Guide to implementing NGS - simpler, faster, better

When planning to adopt a new NGS test in the clinical laboratory, many questions and practical considerations arise. Will introducing this new test increase or decrease complexity in the lab?  Which activities will be impacted in the wet-lab and how will this affect cost-efficiency? What equipment, materials and reagents do I need to get started? How much training will be needed?

What you’ll learn

This guide addresses frequently asked questions and highlights key factors to consider when adding a new NGS test to your offering. Learn how recent advances in NGS protocols can simplify testing workflows in your lab - saving time, improving the quality of results, and increasing efficiency. You will also find links to useful resources, such as our sequence coverage calculators and NGS checklist tool.