Sequenom Announces Launch of RNA-Based Noninvasive Aneuploidy (RNA) Study.

Independent Study Will Document Performance of SEQureDx T21 Technology for Down Syndrome in 10,000 Pregnant Women

SAN DIEGO -- Sequenom, Inc. (NASDAQ: SQNM) today announced the launch of an independent, prospective, multi-center observational study to document the performance of Sequenom's SEQureDx[TM] Trisomy 21 technology for Down syndrome based upon Sequenom's SEQureDx Technology. The study, RNA-based Noninvasive Aneuploidy (RNA), will be directed by Jacob Canick, Ph.D., Professor of Pathology and Laboratory Medicine, Brown University Medical School, and Glenn Palomaki, Associate Director, Division of Medical Screening, Women & Infants Hospital at Alpert Medical School of Brown University in Providence, Rhode Island.

The 16-month RNA Study will evaluate the SEQureDx T21 technology performance by obtaining blood samples from up to 10,000 pregnant women in high prevalence pregnancies late in the first trimester to be confirmed by chorionic villus sampling (CVS) or early second trimester to be confirmed by amniocentesis. The study will include 30 worldwide clinical sites and three independent laboratory sites. The study, which is expected to be completed post-launch of the SEQureDx Trisomy 21 test, is aimed at producing sufficient data for submission to a peer-reviewed journal for publication.

Both Dr. Canick and Mr. Palomaki have participated in many large-scale clinical trials involving prenatal screening. Among these was the groundbreaking First and Second Trimester Evaluation of Risk (FASTER) trial that confirmed the validity of the use of a first semester ultrasound determination of nuchal translucency combined with two serum markers as an alternative to the traditional second-semester maternal serum screening for Down syndrome. Dr. Canick and Mr. Palomaki will head the coordinating center at Women and Infants Hospital, which will have the complete responsibility for the direction of the study, choice of recruitment sites, management of the samples, analysis of the data and the publication of the findings.

"We are pleased to sponsor this important, potentially paradigm-shifting study directed by two highly respected investigators and led by Women & Infants Hospital. We believe obstetricians and gynecologists will be important potential customers for our SEQureDx T21 technology, and as such, one of our key objectives for this study is to obtain sufficient data to submit the results to a well recognized, peer-reviewed journal for publication," stated Harry Stylli, Ph.D., President and Chief Executive Officer of Sequenom. "In addition, upon acquisition of the CLIA-certified laboratory Center of Molecular Medicine, we plan to conduct a validation study that will analyze up to 5,000 samples to further validate the sensitivity of our test. This study should be completed by June 2009 and will allow our CLIA lab to offer our laboratory developed test in compliance with all testing regulations. We believe the combination of these two studies should support early as well as broad, long-term adoption of our SEQureDx T21 test."

Dr. Canick said, "The SEQureDx T21 methodology we will be using in this study, including collection, shipping and testing of the samples, will represent, as closely as possible, a methodology that can be offered as a routine clinical test in multiple laboratories. The ability to perform a validated test for Down syndrome that can be done in the first or second trimester of pregnancy that is highly sensitive and can prevent the unnecessary administration of invasive amniocentesis or CVS tests may provide a potentially practice changing approach to prenatal screening."

The study's primary goal is to document the performance (clinical sensitivity and false-positive rate) of Sequenom's T21 technology that uses fetal RNA in maternal plasma to identify Down syndrome in early pregnancy. The study has a secondary goal of developing a bank of samples to aid in improving SEQureDx T21 detectability in the identification of other chromosomal abnormalities.

Current screening technology for Down syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down syndrome-affected pregnancies will not be identified as needing further evaluation. In addition, these approaches also have false positive rates of between 5% to 10%, resulting in hundreds of unnecessary, highly invasive CVS or amniocentesis procedures. These invasive procedures, which are used to determine whether the fetus has Down syndrome, carry a risk of miscarriage in the range of one-in-100 to one-in-300.

About Women & Infants Hospital

Women & Infants Hospital of Rhode Island, a Care New England hospital, is one of the nation's leading specialty hospitals for women and newborns. The primary teaching affiliate of The Warren Alpert Medical School of Brown University for obstetrics, gynecology and newborn pediatrics, Women & Infants is the seventh largest obstetrical service in the country with more than 9,000 deliveries per year. In 2003, Brown University and Women & Infants were named a National Center of Excellence in Women's Health by the U.S. Department of Health and Human Services. Women & Infants has been named one of the best hospitals in gynecology in the 2000, 2001 and 2004 editions of America's Best Hospitals in U.S. News & World Report. For information about Women & Infants, log on to www.womenandinfants.org.

Sequenom's Proprietary Noninvasive Prenatal Diagnostics

Sequenom's commercial opportunities in prenatal diagnostics are built upon its SEQureDx technologies and are enabled by the pioneering inventions and associated intellectual property rights that it has exclusively licensed from Isis Innovation Ltd., the technology transfer company of the University of Oxford, as well as The Chinese University of Hong Kong. Sequenom's portfolio of noninvasive prenatal diagnostic patent rights and patent applications is platform-independent, includes genetic-analysis methods using circulating cell-free fetal nucleic acids from maternal serum, plasma or whole blood, and also includes a portfolio of methylation and nucleic-acid markers. Sequenom holds exclusive rights in territories including the United States, Europe, Australia, Canada, Japan and Hong Kong. Sequenom is actively expanding its intellectual property position with new technology and new territories. Because Sequenom's license rights are platform-independent, the rights provide exclusivity (with the narrow exception in Europe for RT-PCR-based Rhesus D tests) for development and commercialization of noninvasive prenatal screens and tests on any platform and are not limited to the Company's MassARRAY platform.

About SEQureDx Technology

Sequenom's SEQureDx Technology is a novel approach to genetic screening. Unlike current standards of harvesting placental tissue cells as is required for chorionic villus, or entering the uterus to sample the amniotic fluid surrounding the baby as is performed with amniocentesis, SEQureDx Technology extracts Fetal Nucleic Acid material safely and comfortably from a simple blood specimen collected from the mother to determine the genetic status of the fetus. This breakthrough suggests that effective screening may be accomplished in the future without the risks associated with disturbing the amniotic fluid that surrounds the baby in the uterus. In December 2007, the Company, through a laboratory partner, introduced a laboratory-developed RHD genotyping test using RT-PCR in the United States. In February 2008, Sequenom announced progress with its noninvasive Trisomy 21 test based on multiple RNA fetal markers, including the PLAC4 gene as previously published by Dr. Dennis Lo, Chinese Hong Kong University.

About Down Syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. The ACOG recommendation includes screening before the 20th week of pregnancy using a less-invasive screening option that includes ultrasound in conjunction with the measurement of certain blood hormones. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

About Sequenom

Sequenom is committed to providing the best genetic-analysis products for research and the molecular-diagnostic markets. The Company makes available superior solutions for genomic science in biomedical research, livestock and agricultural applications and molecular medicine, as well as for various diagnostic markets, including noninvasive prenatal testing, oncology and infectious diseases. Sequenom's proprietary MassARRAY([R]) system delivers reliable and specific data from complex biological samples and from genetic-target materials available only in trace amounts.

Sequenom([R]), MassARRAY([R]) and SEQureDx[TM] are trademarks of Sequenom, Inc.

Except for the historical information contained herein, the matters set forth in this press release, including all statements regarding the conduct of, plans, potential, expectations, outcome, objectives and primary and secondary goals of the Study, potential customers of the Company's SEQureDx T21 technology, the acquisition of the Center of Molecular Medicine and the conduct of a validation study there and its expected completion date of June 2009, the Company's expectations to offer a SEQureDx T21 LDT test in compliance with all testing regulations and its expectations regarding adoption of the test, the potential of the test to provide a practice changing approach to prenatal screening, the Company's commercial opportunities in prenatal diagnostics, and effective screening in the future, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with demand for and market acceptance of Sequenom's products, services, and technologies, new technology and product development and commercialization, reliance upon the collaborative efforts of other parties, research and development progress, competition, government regulation particularly with respect to diagnostic products and laboratory developed tests, obtaining or maintaining regulatory approvals, and other risks detailed from time to time in the Company's SEC reports, including the Company's Annual Report on Form 10-K for the year ended December 31, 2007 and subsequent periodic reports. These forward-looking statements are based on current information that is likely to change and speak only as of the date hereof. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.