SAN DIEGO, Oct. 17, 2011 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that its wholly-owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), launched its noninvasive proprietary MaterniT21 laboratory developed test (LDT). The MaterniT21 LDT detects a genetic chromosomal anomaly known as Trisomy 21, the most common cause of Down syndrome. The test is now available to physicians upon request in 20 major metropolitan regions across the United States.
A clinical validation study leading to the introduction of the MaterniT21 LDT has been published in the journal Genetics in Medicine. The results of the multi-center study demonstrated high accuracy, detecting nearly all (99.1%) positive cases of fetal Trisomy 21 with a very low false positive rate. The full results of the multi-center study can be found online at http://journals.lww.com/geneticsinmedicine/.
“As we advance our role in developing and commercializing prenatal diagnostics, we believe this LDT will be a welcomed addition to the testing currently available to the prenatal and maternal care community,” said Harry F. Hixson, Jr., Ph.D., Chairman and CEO, Sequenom, Inc. “We believe that the MaterniT21 LDT will provide physicians and their patients with critical new information to help them make better informed decisions about the patients’ healthcare and pregnancies.”
The MaterniT21 test is indicated for use in pregnant women at high-risk for carrying a fetus with Down syndrome and can accurately test maternal blood as early as 10 weeks of gestation. In the United States, there are an estimated 750,000 such high-risk pregnancies each year.
“The results of this large clinical validation study are extremely promising and the MaterniT21 LDT is accurate and will reliably identify fetuses with Down syndrome among women with high-risk pregnancies,” said Allan T. Bombard, M.D., Laboratory Director, Sequenom CMM. “We believe perinatal specialists and obstetricians will appreciate the introduction of a test that is noninvasive and highly specific, meaning very low risk of a false positive result.”
To conduct the MaterniT21 test, a health provider takes a small sample of whole blood from a pregnant woman. The sample is shipped to the Sequenom CMM CAP accredited and CLIA-certified molecular diagnostics laboratory where licensed laboratory personnel use proprietary sample preparation, detection and analysis technology to measure a possible overabundance of chromosome 21 relative to the amount of other chromosomes. To learn more about the MaterniT21 LDT, please visit Sequenomcmm.com.
Clinical Validation Study
Between April 2009 and February 2011, 27 sites enrolled women in the multi-center validation study. The blinded, nested case control study assessed plasma samples from women between 10 and 22 weeks gestation at high-risk for carrying a fetus with Down syndrome (based on age, family history or a positive serum or sonographic screening test). Samples were drawn and processed to plasma before testing, which was conducted at Sequenom CMM over a nine-week period (January to March 2011).
The Sequenom CMM testing methodology was evaluated for sensitivity and specificity against a total of 212 Down syndrome samples and 1,484 matched samples from unaffected pregnancies. In the initial round of uncorrected blinded analysis, the test identified 209 of the 212 cases of Down syndrome (98.6% accuracy), with three false positives (0.2%) and three false negatives. In the corrected blinded analysis, an adjustment to certain DNA variables was applied, a process that is consistent with the MaterniT21 commercial version of the test. With that adjustment, the test correctly identified 210 of the 212 samples (99.1% accuracy), with just one false positive and two false negatives.
Laboratory Developed Test Offering
The samples will be processed at the Sequenom CMM’s CAP accredited and CLIA-certified laboratory, where the MaterniT21 LDT was developed and validated. Physicians are expected to receive testing results in about 8-10 business days on average.
The out-of-pocket cost of the test for insured patients will be no more than $235. Sequenom CMM will initially operate as an out-of-network provider to ensure eligible patients will have coverage for the test. While negotiating to ensure coverage by most major private insurance programs, the reimbursement for the test is expected to be similar to that of current invasive procedures like amniocentesis or CVS.
Conference Call Information
A conference call and slide presentation will be held today, October 17, 2011, at 9:30 a.m. ET and will be accessible live on the “Investor Relations” section of the Sequenom website at http://www.sequenom.com/home/investor-relations/. An online replay will be available following the initial broadcast until October 25, 2011.
To access the call via live teleconference, dial 800-860-2442 in the U.S., 866-605-3852 in Canada (both are toll free), and 412-858-4600 for other international callers. Please specify to the operator that you would like to join the “Sequenom MaterniT21 Launch Conference Call.”
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 http://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 diagnostics with a focus on prenatal diseases and conditions. Branded under the name SensiGene, these genetic tests provide better patient management alternatives for obstetricians, geneticists and maternal fetal medicine specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.
Forward-Looking Statements
Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the availability, patient cost, expected reimbursement, and expected performance, impact, and benefits of the MaterniT21 LDT, Sequenom CMM’s ability to negotiate coverage for the MaterniT21 LDT by major private insurance programs, acceptance of the MaterniT21 LDT by health providers, the number of annual high-risk pregnancies, Sequenom CMM’s ability to process MaterniT21 LDTs, the length of time required to process and deliver test results for the MaterniT21 LDT, Sequenom CMM’s process for conducting the MaterniT21 LDT, and Sequenom’s commitment to improving healthcare through revolutionary genetic analysis solutions, 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 Sequenom CMM’s success selling and marketing the MaterniT21 LDT and the level of collections and reimbursement from third-party payors, Sequenom CMM’s ability to educate health providers regarding the benefits of the MaterniT21 LDT, Sequenom CMM’s ability to establish and maintain adequate infrastructure to support the commercial launch of the MaterniT21 LDT, Sequenom’s ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, government regulation particularly with respect to diagnostic products and LDTs, obtaining or maintaining regulatory approvals, ongoing litigation and other risks detailed from time to time in Sequenom, Inc.'s most recent Annual Report on Form 10-K and other documents subsequently filed with or furnished to the Securities and Exchange Commission including Sequenom Inc.'s Quarterly Report on Form 10-Q for the quarter ended June 30, 2011. These forward-looking statements are based on current information that may change and 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 Sequenom, Inc. undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.
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SOURCE Sequenom, Inc.
