PG-Seq™

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:

A novel combined approach to PGT-A and PGT-M with one NGS workflow

A validated PGT-A solution already in clinical use

Higher throughput on the same sequencer with no loss on resolution

Amplification of cfDNA in spent culture media for non-invasive PGT-A

A distinct embryo ID based on mtDNA

 


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.

Download PG-Seq™ plus TSE approach for combined PGT-M and PGT-A (β-Thalessemia/HLA)

Download PG-Seq™ plus TSE approach for combined PGT-M and PGT-A (BRCA1)

Download PG-Seq™ plus TSE approach for the Thermo Fisher NGS Platform

Download PG-Seq™ plus TSE approach and Allele Drop Out


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. 

Download PG-Seq™ validation data poster

Download PG-Seq™ Application Note


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. 

Download PG-Seq™ - Effect of WGA and read length on NGS

Download PG-Seq™ - Customising the limit of detection for PGT-A and PGT-SR using NGS


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.

Download PG-Seq™ - Non-invasive PGT-A poster

Download PG-Seq™ - Optimisation of WGA for NIPGT-A


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.

Download PG-Seq™ - Distinct mtDNA embryo signature


Posters

Why PG-Seq™?

High sensitivity, specificity and accuracy


Detect segmental aberrations down to 7MB  


Robust, simple, cost effective complete solution


PG-Seq™ with Target Sequence Enrichment provides novel combined PGT-A & PGT-M 


The International Glossary on Infertility and Fertility Care defines the terms and defintions used within Assisted Reproductive Technology procedures and is supported by all the major fertility societies around the world. The latest revision in 2017 includes the following term:
Preimplantation Genetic Testing
A test performed to analyze the DNA from oocytes (polar bodies) or embryos (Cleavage stage or blastocyst) for HLA-typing or for determining genetic abnormalities. These include: PGT for aneuploidies (PGT-A); PGT for monogenic/single gene defects (PGT-M); and PGT for chromosomal structural rearrangements (PGT-SR).
This has replaced the previous terms Preimplantation Genetic Diagnosis (PGD) and Screening (PGS).

For Research Use Only. Not for use in diagnostic procedures

For more information on PG-Seq™

please contact us