US-based Illumina has debuted an updated version of its VeriSeq NIPT Analysis Software for clinical laboratories in the European Union (EU), to perform optimised data analysis for non-invasive prenatal testing (NIPT).
The new version of the analysis software is equipped with a new method to process samples and is developed for larger batches of 48 samples, expanding the current 16 samples.
The validated CE-IVD marked analysis software analyses sequencing data for use in NIPT by utilising a whole-genome sequencing (WGS)-based method, which involves analysis of trisomy 13, 18, 21, sex chromosome aneuploidies.
Illumina Reproductive and Genetic Health vice-president and general manager Jeff Hawkins said: “The update to the VeriSeq NIPT Analysis Software is another important milestone towards providing a more complete high-quality NIPT solution to our laboratory partners in the EU.
“With this software, Illumina is enabling more clinical laboratories to implement NIPT testing efficiently and affordably in-house, increasing overall workflow efficiency and reducing the costs of testing.”
The software filters and aligns WGS sequencing reads to a reference genome, prior to using counting-based algorithm to identify over- or under- represented test chromosomes, resulting in a normalised chromosome value (NCV) for the test chromosome.
The firm has applied for CE marking of the upgraded software, which introduces a paired-end sequencing data method.
It identifies and differentes fetal aneuploidy status for chromosomes 21, 18, 13, X and Y through sequencing data analysis generated from cell-free DNA fragments, which are isolated from maternal peripheral whole blood specimens in pregnant women of at least 10 weeks gestation.
