Aneuploidy Detection


Detecting Aneuploidy with the Ion PGM System

Aneuploidy can now be detected using next-generation sequencing (NGS); a DNA sample from one or multiple cells can be used.

Rapid and cost-effective NGS can be performed using the Ion ReproSeq PGS View Kit and Ion PGM System; aneuploidy can be detected in all 23 chromosomes.

Rapid On-Demand Aneuploidy Detection

The Ion ReproSeq PGS View Kit can identify chromosome events (whole and chromosome arm) in just eight hours.* The kit takes advantage of the Ion Torrent NGS system speed and requires just 6pg of DNA from one or many cells.

The Ion PGM System uses chip outputs that can be adjusted based on your sample analysis needs. This throughput adaptability reduces the need to run batch assays to achieve low cost per sample and the low reagent pricing makes aneuploidy detection a more viable option for any laboratory, regardless of size.

The kits offer:

  • Affordable workflows that adjust to your throughput needs: perform aneuploidy determinations with minimal sample batching
  • Aneuploidy detection from cell to results in eight hours*
  • An Ion Reporter™ Aneuploidy Analysis Module that simplifies your workflow and automates data analysis.
  • Minimized sample contamination or loss

Single-Tube Experiments with Ion ReproSeq PGS View Kits

Complete the workflow from cells to data in eight hours.* Combine the Ion ReproSeq PGS View Kit, the Ion PGM™ System, the Ion OneTouch ES, and Ion PGM Enrichment Beads to assemble everything that you need to identify chromosome number anomalies/aneuploidies. 


Extract DNA and Construct Library

  • Ion Torrent™ Ion SingleSeq™ Kit (included in any Ion ReproSeq PGS View Kit)

DNA is extracted from cells isolated from preimplantation embryo and barcoded in 3.5 hours.


Prepare Template

  • Ion Torrent™ Ion PGM™ Template IA 500 Kit (included in any Ion ReproSeq PGS View Kit)
  • Ion PGM Enrichment Beads
  • Ion OneTouch ES Instrument

Template is prepared in a fast isothermal amplification and enriched in just 2 hours.


Run Sequence

  • Ion PGM™ Hi-Q™ View Sequencing Kit (included in any Ion ReproSeq PGS View Kit)
  • Ion PGM System

Following chip loading, sequencing is performed and completed on the Ion PGM System in just 2.5 hours for the Ion Torrent™ Ion 314™ Chip or 4.5 hours for the Ion Torrent™ Ion 318™ Chip.


Analyze Data

  • Ion Torrent™ Torrent Suite™ Software
  • Ion Torrent™ Ion Reporter™ Software

The resulting data are automatically transferred to Torrent Suite Software for primary analysis, and aneuploidy status is determined using the Ion Reporter Software.


Ion PGM System — High-Quality, Accessible Sequencing

The Ion PGM System is designed to offer affordable, high-quality NGS to laboratories performing aneuploidy detection. The Ion PGM System is a reliable sequencing platform that combines simple sample preparation and data analysis solutions with flexible chip output for project flexibility.

Simple and Automated Data Analysis

Torrent Suite Software coordinates all the experiment planning and data processing steps necessary to complete your targeted sequencing workflow. Its intuitive, web-based interface through the Torrent Browser enables users to plan, monitor, and view sequencing run results quickly and simply. Data generated on the Ion PGM System are transferred to the PGM Torrent Server for base calling and automatically uploaded to Ion Reporter Software for further analysis.

Aneuploidy analysis workflow on Ion Reporter Software makes analyzing and reporting aneuploidy results simple and fast. This low-pass coverage analysis workflow processes samples by comparing to a built-in bioinformatics control baseline to deliver the DNA ploidy status of each sample. Users can visualize aneuploidy profiles using the customized IGV Karyotype View and create their interpretive report.

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