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Sequenom Officials Discuss Plans for Low-Cost NIPT

NEW YORK (GenomeWeb News) – Sequenom officials on Thursday elaborated on the firm's plans to develop a lower-cost noninvasive prenatal test for fetal aneuploidy.

The new test will be targeted toward the international and low-risk markets and will run on a different platform than its MaterniT21 Plus test, which is targeted at high-risk pregnancies and runs on Illumina's HiSeq 2000 sequencer.

In a presentation at the JP Morgan Healthcare Conference in San Francisco, CFO Paul Maier said the new test will be "a low-cost test using an alternate platform." Maier did not say what platform the new test would run on, but said it is something "we've been working on behind the scenes very quietly for several years," adding that the company is "exploring several different platforms and several different technologies."

The firm is aiming to develop and clinically validate such a test by the end of 2014 and management said that the test would help the company expand into both the international market as well as into the average or low-risk market in the US.

The low-cost test will be priced similarly to serum screens, which run between $250 and $300, CEO Harry Hixson said. Sequenom currently bills insurance companies $2,700 for the MaterniT21 Plus test.

Sequenom will continue to offer MaterniT21 Plus because the whole-genome shotgun sequencing approach it uses for that test will enable it to "add content," CTO Dirk van den Boom said during a Q&A following the presentation.

The company recently expanded the MaterniT21 Plus test to screen not only for trisomies 21, 18, 13 and monosomy X, but also for the deletion and duplication syndromes DiGeorge, Cri-du-chat, and Prader-Willi/Angelman, as well as trisomy 16 and 22.

Company officials also reiterated the firm's intentions to explore "strategic alternatives" for the life sciences portion of its business, Sequenom Bioscience, but they did not elaborate.

Sequenom disclosed its plans for the new NIPT test earlier this week, when it reported preliminary 2014 revenues of $162 million. It also announced a deal with Nicox to market its RetnaGene AMD test.