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Sequenom, Cypher Genomics Partner on NIPT

NEW YORK (GenomeWeb) – Sequenom and Cypher Genomics have struck a development agreement for noninvasive prenatal testing, the companies said today. Sequenom will use Cypher's genome interpretation technology, Mantis, to analyze clinically relevant fetal sub-chromosomal variants detected in maternal blood.

Sub-chromosomal variants are often not detected until after birth and they make up more than 50 percent of rare chromosomal abnormalities beyond the more common aneuploidies and are associated with morbidity and mortality risks.

"We have been working closely with Sequenom to validate our automated Mantis technology to classify clinically relevant sub-chromosomal genomic structural variations, such as copy-number variations, in circulating fetal DNA from maternal blood samples, which may have applications in the development of a new, more comprehensive NIPT offering," Cypher President and COO Adam Simpson said in a statement.

Sequenom's Enhanced Sequencing Series option for its MaterniT21 Plus test already screens for a handful of sub-chromosomal variants, such as Langer-Giedion, Wolf-Hirschhorn, and 22q11, which are all microdeletions.

Being able to expand the range of sub-chromosomal variants for which it tests would "broaden the clinical utility of our prenatal testing offerings," Dirk van den Boom, Sequenom's CSO, said in a statement.

"We look forward to advancing our collaboration with Cypher Genomics as we develop a next-generation NIPT offering and expand into new areas outside of prenatal testing," van den Boom added.