Sequenom, Inc. Announces The Availability Of Heredi-T™ Cystic Fibrosis Carrier Screening LDT Through Sequenom CMM

Mar 21, 2013, 07:00 ET from Sequenom, Inc.

SAN DIEGO, March 21, 2013 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that Sequenom Center for Molecular Medicine (SCMM) has launched an advanced new cystic fibrosis carrier screen test branded under the name Heredi-T™.  The laboratory-developed test (LDT) is now available as a testing service to ordering physicians.

The Heredi-T Cystic Fibrosis (CF) test analyzes 136 mutations and five variants proven to be clinically relevant in causing CF, integrating disease causing mutations selected from the Johns Hopkins CFTR2 database (  The LDT analyzes nearly six times the number of mutations currently available in other screening methods and can be performed preconception or at any time during pregnancy with a DNA sample obtained from a buccal swab.  

"The Heredi-T test provides significant new clinical value, offering highly reliable information about a patient's risk of being a cystic fibrosis carrier," said Bill Welch, President and COO of Sequenom. "This introduction adds to Sequenom CMM's leadership in prenatal testing and supports our mission to help health care providers and their patients make more informed clinical decisions through the use of advanced genetics."

The American College of Obstetricians and Gynecologists (ACOG) recommends cystic fibrosis carrier screening for all patients. According to ACOG, additional screening consideration should be given to patients with the following, as these clinical indicators increase the risk of CF:

  • Family history of CF in the patient or partner's family
  • Ultrasound findings that indicate an increased risk for CF
  • Bowel or dilated loops of bowel
  • History of male infertility

Results of the Heredi-T CF test are delivered to the physician on average within seven business days. A positive Heredi-T CF test result indicates that the patient has one copy of a genetic mutation that is known to cause CF, and they should be advised to consider genetic counseling or further testing. A negative Heredi-T CF test result indicates a low risk for CF, but does not completely eliminate the risk because the test does not screen for all possible CF mutations.

About Cystic Fibrosis Cystic fibrosis (CF) is one of the most common genetic diseases in the United States. It is caused by changes in the CFTR gene. Changes in this gene cause the body to produce thick sticky mucus in the lungs, pancreas and other organs that can affect breathing and digestion. Symptoms can range from moderate to severe and can even impact fertility. It is estimated that more than 10 million Americans are carriers of CF. While the risk of being a CF carrier is dependent upon one's ethnicity and family history, individuals of all racial and ethnic groups may be carriers of CF.

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 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 Center for Molecular Medicine 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 names MaterniT21™ PLUS, Heredi-T™, SensiGene® and RetnaGene™, these molecular genetic laboratory tests provide early patient management information for obstetricians, geneticists, maternal fetal medicine specialists, retina specialists and ophthalmologists.  Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies. Visit for more information on laboratory testing services.

SEQUENOM®, SEQUENOM®  CMM® , MaterniT21™ PLUS, Heredi-T™, SensiGene® and RetnaGene™ are trademarks of Sequenom, Inc. All other trademarks and service marks are the property of their respective owners.

Forward-Looking Statements Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expected benefits, impact, and value of the Heredi-T™ CF test to healthcare providers and their patients, the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM's impact on the landscape in genetic diagnostics, 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 market demand for and acceptance and use of technology and tests such as the Heredi-T™ CF test, reliance upon the collaborative efforts of other parties such as, without limitation, healthcare providers, international distributors and licensees, the Company or third parties obtaining or maintaining regulatory approvals that impact the Company's business, government regulation particularly with respect to diagnostic products and laboratory developed tests, publication processes, the performance of designed product enhancements, the Company's ability to develop and commercialize technologies and products, particularly new technologies such as noninvasive prenatal diagnostics, laboratory developed tests, and genetic analysis platforms, the Company's financial position, the Company's ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, litigation involving the Company, and other risks detailed from time to time in the Company's most recently filed Quarterly Report on Form 10-Q for the quarter ended September 30, 2012, its most recently filed reports on Form 8-K, and its most recently filed Annual Report on Form 10-K, and other documents subsequently filed with or furnished to the Securities and Exchange Commission. 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 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.


SOURCE Sequenom, Inc.