Scientist pipetting liquid samples into test tubes in laboratory
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Sanger sequencing to optimize accuracy

Our research-backed Sanger sequencing confirmation maximizes test sensitivity and specificity, reducing the chance of false positives or missing real mutations.

Resolving NGS Limitations with Sanger Confirmation

Next generation sequencing (NGS) without Sanger confirmation means test sensitivity and specificity are not optimized. Ambry’s landmark study—the largest of its kind—demonstrated that 1.3% of mutations identified without Sanger confirmation would be false positives. Conversely, tightening bioinformatics filters to eliminate these false positives would result in missing 2% of true mutations (Mu et al., November 2016).

These findings guided implementation of additional Sanger sequencing confirmation at specific, well-defined thresholds. This reduces the risk of reporting false positives or missing true mutations, delivering trustworthy results to healthcare providers who use them to guide patient care.

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Experience that Powers Precision

Ambry has been at the forefront of NGS since adopting the technology in 2007 and integrating it into operations in 2010. Having processed more than 2.5 million tests, deep operational experience allows us to navigate the precise limitations of the technology. By combining a highly sensitive bioinformatics pipeline with Sanger sequencing to confirm NGS variants, we are able to deliver dependable data and results to healthcare providers and their patients.

References:

  • Mu W, Lu H-M, Chen J, Li S, Elliott AM. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. The Journal of Molecular Diagnostics. November 2016 18(6):923-32.