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

SAN DIEGO, — 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 (https://www.cftr2.org). 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 https://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 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 https://www.sequenomcmm.com for more information on laboratory testing services.

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