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

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.

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