Sample-to-results NGS for comprehensive preimplantation genetic testing. Obtain PGT-A and PGT-M results from a single research sample.

Simple, scalable, sample-to-results NGS workflows to simultaneously research chromosomal and monogenic disorders for IVF

An estimated 48.5 million couples suffer from infertility worldwide (1), which drives the usage of assisted reproductive technologies around the globe. Preimplantation genetic testing (PGT) is a type of assisted reproductive technology that is becoming more commonplace in research for in vitro fertilization (IVF). There is a need for innovative solutions to gain fast results from precious samples without the complexities that traditionally come with genetic analysis tools.

Recent advances in next-generation sequencing (NGS) methods enable simple, scalable, and innovative sample-to-answer workflow solutions for PGT-A and PGT-M, including integrated analysis tools, making NGS-based methods accessible for any lab regardless of expertise.

Two types of testing solutions are commonly used in PGT to evaluate the status of an embryo:

  • Used for detection of aneuploidies, or chromosomal abnormalities, across all 24 chromosomes (22 autosomes and the X and Y chromosomes)
  • Examples include trisomy 21 (Down syndrome) and monosomy X (Turner syndrome)
  • Identifies specific genetic variants in a single gene associated with known predisposition within the family
  • Examples include sickle cell anemia, cystic fibrosis, Huntington disease, fragile-X, and spinal muscular dystrophy

Traditionally, PGT-M has been challenging for labs to offer as it required expertise to design and verify a panel to interrogate each specific disorder. In addition, labs have had to process PGT-M and PGT-A samples separately, which meant additional resource management and hands-on time, as well as longer time to result.     

Sample-to-result NGS workflow for PGT-A and PGT-M from one IVF research sample

Now, with the power of Ion Torrent NGS technology, a single sample can be used for both PGT-A and PGT-M IVF investigations within a simplified and integrated workflow.

Ion Torrent NGS is a rapid, scalable, and precise sequencing solution that enables you to spend more time finding answers and less time looking for them. When used with the Ion GeneStudio S5 System, the Ion ReproSeq PGS kit for PGT-A and PGD-SEQ* kit for PGT-M enable simultaneous research of chromosomal abnormalities and monogenic disorders for IVF, all in one convenient NGS workflow. This complete, end-to-end workflow solution includes simple, integrated reporting tools, making results accessible regardless of your team’s NGS and informatics expertise.

Benefits of using Ion Torrent NGS for comprehensive PGT:

  • Obtain comprehensive results in the same NGS workflow from a single sample—with a combined PGT-A and PGT-M solution
  • Set-up-and-go solution—allows new users to get up and running quickly with less training
  • Simple, integrated analysis tools makes NGS accessible regardless of experience—customizable analysis from Ion Reporter software for aneuploidy calling and PGD-SEQ linkage analysis software for comprehensive familial carrier status
  • Scalable and economic in-house PGT solution that grows with your business—Ion chip technology addresses variable throughput needs to cost-effectively process PGT-A and PGT-M samples without the need to outsource
  • Rapid workflow for time-sensitive samples—go from sample to results in less than 12 hours

NGS workflows for comprehensive PGT

With Ion Torrent NGS, easily go from sample to results in less than 12 hours. PGT-A and PGT-M libraries are prepared manually. Pooled libraries are then placed in the Ion Chef System for isothermal amplification, enrichment, and loading onto Ion S5 Chips. Chips are placed in the Ion GeneStudio S5 System with reagents for sequencing. Data analysis is performed by Ion Reporter software for aneuploidy calling and PGD-SEQ linkage analysis software for comprehensive familial carrier status.

Learn more about Ion ReproSeq PGS Kit for PGT-A.
Learn more about PGD-SEQ kits for PGT-M.

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1. Mascarenhas MN, Flaxman SR, Boerma T, Vanderpoel S, Stevens GA. National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys. PLoS Med. 2012;9(12):e1001356.

*PGD-SEQ is a trademark of Bioarray, S.L.