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.