The Yourgene Nx NIPT Workflow is a non-invasive prenatal screening solution aimed at clinical laboratories to build their own laboratory developed test (LDT) to run their own NIPT service offering.
Customers can choose elements of our workflow from software, library preparation reagents and our game-changing fetal fraction enrichment technology and there is an option to customise the workflow to suit their own labs needs.
The Yourgene Nx NIPT Workflow is a lab developed test which utilises Next Generation Sequencing technology, to estimate the risk of a fetus having Trisomy 21, Trisomy 18, Trisomy 13, Rare Autosomal Aneuploidies (RAA), Sex Chromosome Aneuploidies (SCA) and the most clinically relevant microdeletions.
The workflow can deliver results from 2 to 3 days and is suitable for use from 10 gestational weeks for singleton or twin pregnancies.
Autosomal Aneuploidies
The Yourgene Nx NIPT Workflow estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). In addition, a genome-wide aneuploidy detection analysis on the remaining chromosomes can be carried out and reported.
Sex Chromosome Aneuploidies
The Yourgene Nx NIPT Workflow screens for the following sex chromosome aneuploidies:
45,X
Turner syndrome
45,X
seen in about 1 in 2,000 live female births
47,XXX
Triple X syndrome
47,XXX
seen in about 1 in 900-1,000 live female births
47,XXY
Klinefelter syndrome
47,XXY
seen in about 1 in 500-1,000 live male births
47,XYY
Jacobs syndrome
47,XYY
seen in about 1 in 1,000 live male births
Microdeletions
Microdeletion syndrome is caused by the absence of a small portion of genetic material in the chromosome. They can vary greatly in severity, with the symptoms of microdeletions ranging from minimal developmental delays to sever anomalies e.g. cardiac defects, neurological malformations etc. Upon request, the following clinically relevant microdeletions can be screened for:
DiGeorge syndrome (22q11.2 deletion)
1p36 deletion syndrome
Prader-Willi syndrome (15q11.2-q13 deletion)
Angelman syndrome (15q11.2-q13 deletion)
Cri-du-Chat syndrome (5p15 deletion)
Wolf-Hirschhorn syndrome
Fetal Sex Determination
Upon request, the fetal sex can be determined with >99% accuracy.
Fetal Fraction
In order to minimise the risk of a false negative test result, the Yourgene Nx NIPT workflow estimates the fraction of circulating cell-free DNA which comes from the fetus (fetal fraction), relative to the cell-free DNA from the mother. The Yourgene Nx NIPT workflow incorporates clever bioinformatics software that is able to produce valid and accurate results in samples that have as little as 2.0% fetal fraction.
The Yourgene Nx NIPT Workflow is available in regions where a CE-marked IVD is not available.
Yourgene offers LDT customers a highly flexible NIPT solution that can be customised to meet a laboratory needs. Providing both an automated and a manual LDT option, these can be easily scaled to meet the testing demands of your clinical laboratory. We provide the capability to screen for a broad clinical menu including microdeletions, ensuring a most comprehensive and flexible NIPT solution. Utilising Next Generation Sequencing technology, our NIPT LDT solutions are compatible with Illumina NextSeq Sequencing platforms.
Each customer’s workflow is different, but here are examples of what a customer could have as part of the LDT with a typical manual and automated workflow outlined below.
Yourgene Nx NIPT Manual Workflow:
Yourgene Nx NIPT Automated Workflow:
Yourgene Nx NIPT Workflow
The automated workflow utilises the Yourgene® SP150 liquid handling robot for automated DNA extraction and library construction to reduce hands on time and provide a more streamlined workflow.
The Yourgene Nx NIPT workflows utilise the Yourgene® QS250, powered by Ranger® Technology. Ranger® Technology allows automated high-throughput target enrichment of cfDNA NGS library constructs prior to sequencing, enabling great improvements in fetal fraction enrichment.
In NIPT, Ranger® Technology next generation size selection and enrichment enables labs to get the results they are looking for first time, reducing failure rates and improving precision, enabling more pregnant mothers to receive a safe, fast and accurate screening result.
NIPT Analysis
Yourgene Flex™ Analysis Software has been developed to build on the excellent bioinformatics technology and expertise deployed in the IONA® Software. Yourgene Flex™ is a modular next-generation sequencing analysis framework harnessing best in class bioinformatics pipelines to offer high quality, robust yet flexible NGS analysis solutions.
Easy Sample Management and Tracking
The Atlas Workflow Manager is a custom, comprehensive Data Management system (DMS) which can interface with your LIMS systems to track your clinical samples and reagents from start to reporting.
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