April 05, 2018
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NGS Library Preparation for Carrier Screening Using Acoustic Liquid Handling


Laboratory Manager, Central Lab in Igenomix, Valencia (Spain)

Senior Product Manager, Labcyte

This webinar discusses how acoustic liquid handling can reduce the time and costs for labs performing carrier screening with next-generation sequencing.

Pere Mir Pardo of Igenomix provides an overview of his company's Carrier Genetic Test (CGT), which uses NGS to assess a couple's carrier status for 600 Mendelian diseases.

In 2017, Igenomix adopted the Labcyte Echo 525 Liquid Handler for NGS library preparation. Dr. Mir Pardo shares how the new technology has enabled the reduction of the hands-on time for the CGT protocol, ultimately leading to a reduction in costs.

From October 2015 through December 2016, Igenomix analyzed 6,156 samples using the conventional NGS protocol. The Echo system was introduced into the laboratory in January 2017 and from then until July 2017 a total of 4,277 samples were analyzed using the Echo system protocol. Results of both protocols are similar in terms of sensitivity (0.9858) and specificity (0.9997) of mutation detection.

Iain Russell presents an overview of acoustic droplet ejection technology, describe the benefits of acoustic liquid handling for Genomics applications and provide a review of how the Echo is being utilized in for a variety of applications common to Genomics labs.

Attendees of this webinar will gain a deeper understanding of the features and benefits of acoustic liquid handling. Additionally, attendees will learn how NGS-based expanded CGT analysis constitutes a powerful tool to predict risk for Mendelian diseases, as well as how the Echo system makes the test more affordable and widely available to a higher number of patients.

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