Sequenom Laboratories Expands International Noninvasive Prenatal Testing Services To Broader Population With VisibiliT™ Test

SAN DIEGO, July 21, 2014 /PRNewswire/ -- Sequenom, Inc. SQNM, a life sciences company providing innovative genetic analysis solutions, today announced that its wholly owned subsidiary, Sequenom Laboratories, will soon launch  the VisibiliT™ laboratory-developed test in international markets. The VisibiliT test utilizes maternal age, fetal fraction and the relative amount of chromosomal material for chromosomes 21 and 18 to generate a highly accurate, personalized risk score. The VisibiliT test is for pregnant women who want information about common fetal trisomies (Down syndrome and Edwards syndrome), have a single gestation pregnancy, and whose pregnancies are considered to be at average risk. The test can also report fetal gender. With the VisibiliT test, Sequenom Laboratories fulfills its goal to expand its noninvasive prenatal testing (NIPT) menu with the development of a low-cost test by year-end to facilitate international access.

"This is an important development because it makes an excellent test much more affordable and accessible to a wider spectrum of pregnant women throughout the world," said Professor Kypros Nicolaides, M.D., director of the Fetal Medicine Foundation and the Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in London.

Performance of the VisibiliT test was determined by a clinical evaluation study of over 1,000 samples, and demonstrated a greater than 99% sensitivity and specificity for trisomies 21 and 18. A poster entitled, 'Application of risk-score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21 and trisomy 18,' will be presented at the 18^th International Conference on Prenatal Diagnosis and Therapy (ISPD) taking place July 20-23 in Brisbane, Australia.

Building a global portfolio of laboratory-developed tests for noninvasive prenatal assessment

Sequenom Laboratories is the first test service provider to offer two distinct NIPT options—MaterniT21™ PLUS and VisibiliT—enabling greater testing access and flexibility for providers and patients.

"The launch of the VisibiliT test is an important achievement for the company, as we are expanding our noninvasive prenatal testing menu to provide additional choices to better serve the broader prenatal testing community," said William Welch, Chief Executive Officer of Sequenom, Inc. "We are committed to innovating and building upon our market-leading NIPT services and solutions as we continue to provide valuable information to health care professionals and their patients around the world." 

The VisibiliT test will be available to international markets beginning in August. Sequenom Laboratories will continue ongoing discussions with payors in the U.S. and is prepared to offer the test in the U.S. as insurance coverage develops.  

The technology at the forefront of prenatal testing

Sequenom Laboratories first pioneered the use of NIPT in 2011, with the introduction of the MaterniT21 PLUS laboratory-developed test that's benefited more than 250,000 pregnant women worldwide. Because of this advance, thousands of pregnant women have avoided potentially unnecessary invasive procedures while still gaining critical genetic information about the health of their pregnancies. The VisibiliT test maintains the same Sequenom Laboratories' commitment to quality and accuracy that's featured in the MaterniT21 PLUS test.

Using a maternal blood sample, the VisibiliT and MaterniT21 PLUS tests analyze chromosomal material in cell-free fetal DNA of pregnant women. The VisibiliT test reports a risk score for common fetal chromosomal abnormalities, specifically trisomies 21 and 18, as well as fetal gender. The MaterniT21 PLUS test, by contrast, reports both common and rare fetal chromosomal abnormalities—from trisomies 21, 18 and 13 to fetal sex aneuploidies, trisomies 16, 22, fetal gender and select microdeletions.

Both tests were developed, validated and are performed exclusively by Sequenom Laboratories. Test results are provided to the ordering health care provider.

Sequenom Laboratories Presentations at ISPD
Tuesday, July 22, 2014, Session 6: Screening for aneuploidy / NIPT

• 11:06-11:16 a.m. – NIPT 2.0: Identification of 22q microdeletions by noninvasive prenatal testing; Presenter: Juan-Sebastian Saldivar
• 11:39 – 11:45 a.m. – Genome wide analysis of sub-chromosomal copy number variations using NIPT in over 4500 patients; Presenter: Dirk van den Boom

Sequenom Scientific Posters at ISPD

• Characterization and targeted isolation of circulating cell-free DNA for the noninvasive prenatal MaterniT21™ PLUS LDT
• Noninvasive detection of a balanced fetal translocation from maternal plasma
• Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
• Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing
• Evaluation of targeted methodologies for the noninvasive detection of fetal aneuploidies
• Prenatal detection of fetal aneuploidy on the Ion Torrent proton platform
• Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21 and trisomy 18

About Sequenom
Sequenom, Inc. SQNM is a life sciences company committed to improving healthcare through revolutionary genomic and genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve molecular diagnostic markets. Website: www.sequenom.com. 

About Sequenom Laboratories
Sequenom Laboratories, 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 HerediT™, MaterniT21™ PLUS, RetnaGene™, SensiGene™ and VisibiliT™, these molecular genetic laboratory-developed tests provide early patient management information for obstetricians, geneticists, maternal fetal medicine specialists and ophthalmologists. Sequenom Laboratories is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies. 

SEQUENOM®, HerediT™, MaterniT21™ PLUS, RetnaGene™, SensiGene™ and VisibiliT™, 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 Sequenom's expected launch and availability in August of Sequenom Laboratories' VisibiliT test, the impact and benefits of the test including affordability and accessibility to a wider spectrum of pregnant women throughout the world, Sequenom's commitment to innovating and building upon its market leading NIPT services and solutions and its ability to continue to provide valuable information to health care professionals and their patients, and Sequenom Laboratories' plans to continue ongoing discussions with payors in the U.S. and its preparation to offer the test in the U.S. as insurance coverage develops, Sequenom's commitment to improving healthcare through revolutionary genomic and genetic analysis solutions, and Sequenom Laboratories' changing the landscape in genetic disorder 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 Sequenom's ability to develop and commercialize new technologies and products, particularly new technologies such as prenatal and other diagnostics and laboratory developed tests such as the VisibiliT test, 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 laboratory developed tests, obtaining or maintaining regulatory approvals, ongoing patent litigation, and other risks detailed from time to time in Sequenom, Inc.'s most recent Quarterly and Annual Reports on Securities and Exchange Commission Forms 10-Q and 10-K, respectively, 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 Sequenom 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.