Sequenom Laboratories™ Announces Significant Enhancement to MaterniT® GENOME and Will Present New Data at the 20th International Conference on Prenatal Diagnosis and Therapy
30% of MaterniT® GENOME positive findings could be detected only with genome-wide testing

SAN DIEGO, July 7, 2016 /PRNewswire/ -- Sequenom, Inc., (NASDAQ: SQNM), a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced a significant performance enhancement to the MaterniT® GENOME laboratory-developed test and will present new data at the 20th International Conference on Prenatal Diagnosis and Therapy, July 10-13, 2016, in Berlin, Germany.


"MaterniT GENOME is a best-in-class noninvasive prenatal test (NIPT) that identifies nearly 1 in 3 positive findings that may not have been detected with standard NIPTs that only analyze major chromosomal abnormalities such as trisomies 21, 18, 13 and sex chromosome aneuploidies," said Dirk van den Boom, PhD, President and CEO of Sequenom. "The market receptivity and physician feedback are testaments to the unmet medical need and clinical utility of MaterniT GENOME. Prior to the launch of this novel test, many of the MaterniT GENOME positive findings would have been identifiable only with an invasive procedure; as such, we believe that genome-wide testing will become the standard of care for NIPT in the future."

Genome-Wide Testing Makes MaterniT GENOME Unique
Approximately 30% of the positive findings for MaterniT GENOME are detected due to its genome-wide coverage while other cell-free DNA-based NIPTs typically only analyze select chromosomes. Other cell-free DNA-based NIPT on the market would have missed these chromosomal abnormalities, potentially creating false reassurance of an unaffected pregnancy. The broad and deep analysis of this test, coupled with industry-leading sensitivity and specificity, makes MaterniT GENOME the most comprehensive NIPT on the market.

MaterniT GENOME: Improved for 22q11 Microdeletion Performance
Along with analyzing all chromosomes for gains or losses of chromosomal material that are 7 Megabases or greater in size, MaterniT GENOME also analyzes select clinically relevant microdeletions less than 7 Megabases in size. A microdeletion in the 22q11 region is indicative of DiGeorge syndrome, the most common microdeletion syndrome, which impacts multiple organ systems and can be associated with significant morbidity and mortality in the offspring. In June 2016, Sequenom Laboratories implemented a performance enhancement to MaterniT GENOME, made possible through deep bioinformatics capabilities, that significantly increased sensitivity for 22q11 while maintaining specificity. MaterniT GENOME offers superior screening for 22q11 compared to standard cell-free DNA-based NIPT offerings.

Posters to be presented at the 20th International Conference on Prenatal Diagnosis and Therapy, organized by the International Society for Prenatal Diagnosis (ISPD)
Sequenom Laboratories will be presenting three posters covering MaterniT GENOME at the ISPD Conference:

  • Abstract ID: 71, Title: "Genome wide detection of chromosomal gains and losses greater than 7Mb by cfDNA analysis"
  • Abstract ID: 41, Title: "Abnormal ultrasound and increased yield of abnormal results with genome-wide cfDNA analysis"
  • Abstract ID: 38, Title: "Expanding noninvasive prenatal testing (NIPT) for screening of unbalanced translocations"

About Sequenom
Sequenom, Inc. (NASDAQ: SQNM) is committed to enabling healthier lives through the development of innovative products and services. The Company serves patients and physicians by providing early patient management information.  To learn how Sequenom is interpreting the genome to improve your life, please visit

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 principally on prenatal care. Branded under the names HerediT®, MaterniT®, NextView®, SensiGene® and VisibiliT, these molecular genetic laboratory-developed tests provide early patient management information for obstetricians, geneticists, and maternal fetal medicine specialists. Sequenom Laboratories is changing the landscape in genetic diagnostics using proprietary cutting edge technologies. Please visit and follow @SequenomLabs.

SEQUENOM®, HerediT®, MaterniT®, NextView®, SensiGene®, VisibiliT and Sequenom Laboratories are trademarks of Sequenom, Inc. All other trademarks and service marks are the property of their respective owners.

Forward-Looking Statements
Statements contained in this press release regarding matters that are not historical facts are "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 including statements regarding the development of innovative products and services and the expectation that genome-wide testing will become the standard of care for NIPT in the future.  Risks are described more fully in the Company's filings with the Securities and Exchange Commission, including without limitation the Company's most recent Form 10K and other documents subsequently filed with or furnished to the Securities and Exchange Commission.  All forward-looking statements contained in this press release speak only as of the date on which they were made.  The Company undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.


SOURCE Sequenom, Inc.

For further information: Carolyn Beaver, Senior Vice President and Chief Financial Officer, Sequenom, Inc., 858.202.9028

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