SAN DIEGO, Feb. 4, 2013 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, announced today that the MaterniT21™ PLUS laboratory-developed test (LDT) available exclusively through Sequenom Center for Molecular Medicine (Sequenom CMM) will now report as additional findings the presence of certain fetal sex chromosomal aneuploidies, in addition to its identification of autosomal aneuploidies for chromosome 21 (associated with Down syndrome), chromosome 18 (associated with Edwards syndrome), and chromosome 13 (associated with Patau syndrome). Reporting of these sex aneuploidies will begin for samples received as of Monday, February 4, 2013.
The test will report on the presence of four rare aneuploidies involving an abnormal number of X or Y chromosomes, including female syndromes 45,X (Turner Syndrome) and 47,XXX (Triple X Syndrome), and male syndromes 47,XXY (Klinefelter Syndrome) and 47,XYY. Results of the blinded clinical validation study set have been submitted for publication in a peer-reviewed journal.
"Sex chromosome abnormalities may be recognized at birth, as part of the spectrum of less severe chromosome abnormalities. They can also be found in adults, many being incidentally discovered in the course of evaluating patients for infertility or endocrine problems. Identifying these conditions through the MaterniT21 PLUS test will allow the health care provider and patient to discuss the medical issues associated with these conditions as well as to develop both short- and long-term care plans," said Allan Bombard, MD, Sequenom's Chief Medical Officer.
The MaterniT21 PLUS test analyzes the relative amount of 21, 18, 13, as well as X and Y chromosomal material in cell-free DNA. The test is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks' gestation. Estimates suggest there are about 750,000 pregnancies at high risk for fetal aneuploidy each year in the United States. The MaterniT21 PLUS test is available exclusively through the Sequenom Center for Molecular Medicine (Sequenom CMM) as a testing service provided to physicians. To learn more about the test, please visit www.Sequenomcmm.com.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. About Sequenom CMM Sequenom Center for Molecular Medicine® (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, has developed a broad range of laboratory tests with a focus on prenatal and ophthalmological diseases and conditions. Branded under the name SensiGene™, MaterniT21™ PLUS, and RetnaGene™, these molecular genetic laboratory tests provide early patient management information for obstetricians, geneticists and maternal fetal medicine specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.