For Sequenom, a leader in noninvasive prenatal testing (NIPT) with about 40% market share, faster analysis at lower cost is essential to continued growth.
NIPT uses maternal blood, which contains short fragments of circulating fetal DNA. If mapping a single genome is like piecing together a telephone book, then NIPT is like putting together two telephone books that share more than half of the same phone numbers, when there are a dozen copies of mom’s phone book for every one of baby’s. In spite of the challenges, Sequenom has developed a way to piece together a low-coverage sequence of the fetal genome that provides enough information to identify aneuploidy and some microdeletions. The company advertises diagnostic capability for a panel of fourteen genetic disorders, from Down syndrome (trisomy 21) to Prader-Willi/Angelman syndrome (deletion in 15q).
Among the products that Sequenom produces is the first and only NIPT that identifies genome-wide deletions or duplications of 7 Mb and greater, the first and most comprehensive NIPT for women at high risk for fetal chromosomal abnormalities, and the first NIPT that uses common trisomy information mirrored after serum screening content. It also offers a comprehensive, customizable carrier test that screens for >250 diseases and >2,000 disease-causing mutations, analyzes 136 mutations and 5 variants that are clinically relevant to cystic fibrosis (CF), and detects fetal RHD genotype in RhD-sensitized mothers.
“Edico Genome’s DRAGEN chip analyzes the large amounts of sequencing data we generate in a rapid and cost-effective manner, without compromising accuracy,” said Tim Burcham, Ph.D., Vice President of Informatics and Software for Sequenom. “This has the potential to improve the analysis of next-generation sequencing data by reducing analysis time and storage costs and potentially improving turnaround time.”
Sequenom’s flagship MaterniT21 Plus test currently has a five-day turnaround time from receipt of a maternal blood sample.