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Guide to NGS test implementation - 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.


Next generation sequencing (NGS) is transforming clinical genetic testing with increased diagnostic accuracy, sensitivity and efficiency. With the power to sequence millions of DNA strands in parallel, NGS enables more genes and loci to be analyzed in a single test, compared to more traditional methods. Recent innovations have also made it possible to combine detection of single nucleotide variants (SNV), indels and larger deletions (CNV) in a single sequencing run. These developments have made it feasible to use NGS as a primary test method for diagnostic cascades, shortening the time it takes to get a definitive result and reducing the need for multiple primary methods like Sanger sequencing, GAP-PCR, and MLPA.

At the same time, significant improvements have been made in NGS sample and library preparation. Where once multiple tubes, sample aliquots and clean-up steps were needed to prepare high quality NGS libraries, diagnostic kit providers now offer solutions that significantly reduce hands-on time, sample handling, and the risk of sample contamination and mix-ups.

Together, these advances lower the barriers for NGS diagnostics, and make complex genetic analyses simpler, faster and more reliable.