SAN DIEGO--(BUSINESS WIRE)--Illumina, Inc. (NASDAQ: ILMN) today announced the launch of VeriSeq™ NIPT Solution v2, a CE-IVD, next-generation sequencing (NGS)-based approach to noninvasive prenatal testing (NIPT). The automated comprehensive solution allows laboratories to screen for a broader range of chromosomal and sub-chromosomal conditions associated with birth defects and adverse pregnancy outcomes than the standard NIPT menu. VeriSeq NIPT Solution v2 delivers the most comprehensive view of the fetal genome compared to other CE-IVD NIPT products, enabling healthcare providers to support expectant parents with informed, timely and personalized pregnancy management options better than ever before. VeriSeq NIPT Solution v2 is now available across most countries in Europe, as well as South Africa. Product registration is pending in Australia, Israel and New Zealand.
VeriSeq NIPT Solution v2 provides accurate information about fetal chromosomal status as early as 10 weeks of gestation using a single maternal blood draw. This noninvasive test provides an option to screen for aneuploidy in all autosomes, chromosomes X & Y, and partial deletions and duplications greater than 7 Mb across the genome. Due to its high-sensitivity and high-specificity (low false-positive and false-negative rates), NGS-based NIPT minimizes the need for invasive testing procedures. The automated, reliable solution provides reagents, instruments, installation and training, and offers unprecedented turnaround times; laboratories can process up to 96 samples in approximately one day.
“Genome‐wide cell-free DNA screening allows not only for the detection of common chromosomal aneuploidies, but also enables the identification of rare autosomal aneuploidies (RAAs), as well as partial deletions and duplications that are ≥7 Mb in size. Most RAAs are non-viable and result in a miscarriage. However, in the mosaic state they may persist and result in congenital malformations, intellectual disabilities, growth restriction, unfavorable pregnancy outcome, as well as fetal uniparental disomy,” said Professor Yuval Yaron, Director of the Prenatal Genetic Diagnosis Unit at the Tel Aviv Sourasky Medical Center. “Furthermore, the karyotype-like resolution enables the detection of pathogenic copy number variants (CNVs). While many smaller CNVs may ultimately be classified as variants of unclear significance, virtually all CNVs ≥7 Mb in size will be classified as pathogenic, even in fetuses with no discernable malformations.”
The clinical accuracy of VeriSeq NIPT Solution v2, with respect to outcomes determined by a clinical reference standard assessment, was demonstrated by evaluating more than 2,300 plasma samples from pregnant women with singleton and twin pregnancies undergoing prenatal screening for fetal chromosome aneuploidies and partial deletions and duplications of 7 Mb or greater. The study determined that VeriSeq NIPT Solution v2 provided highly sensitive and specific results – 98.8 percent passed assay quality control on the first pass.
“By leveraging Illumina paired-end sequencing by synthesis chemistry and incorporating innovations in workflow, instruments and software, VeriSeq NIPT Solution v2 makes NGS-based NIPT accessible to any laboratory,” said Garret Hampton, Senior Vice President of Clinical Genomics at Illumina. “We’re thrilled to provide a differentiated and reliable NIPT solution that provides more information to healthcare providers and expectant parents about the genetic health of a baby.”
Click here for more information on VeriSeq NIPT Solution v2.
About Illumina, Inc.
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.
This release contains forward-looking statements that involve risks and uncertainties. Examples of forward-looking statements include, but are not limited to, statements we make regarding the expected availability dates for, and field performance of, new products and services. Important factors that could cause actual results to differ materially from those in any forward-looking statements include challenges inherent in developing, manufacturing, and launching new products and services, and the other factors that are detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We do not intend to update any forward-looking statements after the date of this release.