Sequenom CMM’s MaterniT21™ PLUS Test Expands Current Prenatal Testing Offering Noninvasive DNA-based Test Detects Fetal Trisomies 21, 18, 13

SAN DIEGO, Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced that its wholly-owned subsidiary, the Sequenom Center for Molecular Medicine (Sequenom CMM), has expanded the application of its recently launched laboratory-developed test (LDT). The Company also announced it has rebranded the test under the name MaterniT21 PLUS, which includes the detection of trisomies 18 and 13 in addition to trisomy 21.

The MaterniT21 PLUS test provides direct assessment of fetal chromosomal status by analyzing cell-free DNA in a maternal blood sample. The clinical validation results describing the test’s ability to accurately detect trisomy 21 were published in the journal Genetics in Medicine in October 2011, and a new analysis on the detection of trisomy 18 and 13 has been published online, and will be available in the journal’s March 2012 issue. The published research to date demonstrates high accuracy of the test, which detected nearly all cases of fetal trisomy 21, 18 and 13 in the clinical study with a very low false positive rate. Both study summaries can be found online at https://journals.lww.com/geneticsinmedicine/.

“The technology and data behind the MaterniT21 PLUS test have been studied extensively and have demonstrated high accuracy in detecting T21, T18 and T13 in women who are at an increased risk of carrying a child with one of these chromosomal anomalies,” said Harry F. Hixson, Jr., Ph.D., Chairman and CEO, Sequenom, Inc. “The MaterniT21 PLUS was rebranded to reflect the additional applications of the technology that make it a valuable DNA-based tool to support prenatal specialists in making informed decisions about their patients’ care.”

The MaterniT21 PLUS test is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks gestation. In the United States, there are an estimated 750,000 such high-risk pregnancies each year. Results of the MaterniT21 PLUS test delivered to ordering physicians will include the presence of any of the three trisomies for their high-risk patients. To learn more about the MaterniT21 PLUS test, please visit Sequenomcmm.com.

“We’ve been pleased to introduce advanced DNA-based technologies like the MaterniT21 PLUS test in our prenatal center to support superior prenatal care and expand options for our patients,” said Lee P. Shulman, M.D., Chief of the Division of Clinical Genetics at the Feinberg School of Medicine of Northwestern University in Chicago, Illinois. “The additional published research expands the utility of the test to include additional fetal abnormalities and further validates our belief that genetic technologies can be extremely valuable in helping specialists provide better testing and counseling that can be used to improve maternal and fetal outcomes during the pregnancy.”

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at https://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

Sequenom CMM, LLC

Sequenom Center for Molecular Medicine® (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, is developing a broad range of laboratory developed tests with a focus on prenatal and ophthalmic diseases and conditions. These laboratory-developed tests provide beneficial patient management options for obstetricians, geneticists and maternal fetal medicine specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.

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