Preimplantation Genetic Testing made simple
Go beyond the standard NGS workflows with PG-Seq™, a new NGS workflow solution for PGT-A (Preimplantation Genetic Testing for Aneuploidy) and PGT-M (Preimplantation Genetic Testing for Monogenic Disorders).
PG-Seq™ provides MORE than your standard NGS workflow, including:
Early Access Program commencing January 2018
Launching globally in March 2018
A novel combined approach to PGT-A & PGT-M with one NGS workflow
PG-Seq™ offers one workflow that can be used to combine PGT-A & PGT-M together in a single amplification. The workflow can be used to detect clinically-relevant mutations including single nucleotide variants (SNV) with a high degree of accuracy.
By using DOPlify™ Whole Genome Amplification and the RHS proprietary Targeted Sequence Enrichment (TSE) Protocol as part of PG-Seq™, it is possible to obtain results with sufficient read depth (>200x) for targeted PGT-M even in a low pass NGS workflow designed for PGT-A. This streamlines lab protocols, allows PGT-A and PGT-M results to be sequenced together and keeps the cost per sample affordable.
A validated solution already in clinical use
PG-Seq™ has been used for PGT-A at RHS' service labs for over 12 months.
Preparing for full product release in March 2018, PG-Seq™ has been validated on single cell and 5-cell aliquots using cell lines with known ploidy, including euploid, single, and double trisomies. Cell line aberrations (gains and losses) of 7-31Mb were also included. These structural variants were detected with 98.3% sensitivity and specificity in 5-cell samples.
Higher throughput of 48 samples on the same sequencer with no loss or compromise on resolution
PG-Seq™ is NGS using 1 x 75bp read lengths, double the length offered by VeriSeq. This additional read length provides 15% more mapped reads per sample and 50% more coverage across the sequenced genome compared to standard 1 x 36bp 24 sample runs, allowing increased throughput (48 samples per run) with no loss of resolution or accuracy.
PG-Seq™ has been validated and is compatible on the Illumina MiSeq platform. PG-Seq™ for the Thermo Fisher Ion PGM/S5 platforms is in final development. Please contact us below to register your interest for early access to PG-Seq™ for the Thermo Fisher Ion PGM/S5 platforms.
Are you interested in non-invasive PGT-A?
Powered by DOPlify™, PG-Seq™ utilises a unique whole genome amplification approach to successfully amplify cell free DNA in spent embryo culture media.
Our pilot study showed media/biopsy concordance for chromosomal content (ie which chromosomes were affected, not just correlation for aneuploidy) of 95%. Data recently presented at the 2017 American Society of Reproduction Meeting (ASRM) San Antonio USA, showed there was a 93% concordance rate between the biopsy and non-invasive media testing approaches. This approach has now entered into a prospective pilot clinical trial. Of the 15 women in the trial, 4 women are pregnant so far.
Generate distinct embyo signatures
With PG-Seq™ and its superior mtDNA coverage, it is possible to generate a distinct embryo signature based on mtDNA that can be used to determine maternal origin.
Our study showed 100% embryo identification from clinical data across multiple patients and multiple embryos across multiple cycles.