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SEQUENOM's first laboratory developed cystic fibrosis test launched

Published on September 18, 2009 at 4:15 AM · No Comments

SEQUENOM, Inc. (Nasdaq: SQNM) today announced that the company's first laboratory developed test, the SensiGene(TM) Cystic Fibrosis (CF) Carrier Screening test, has been launched. This test is available exclusively through the Sequenom Center for Molecular Medicine, a next-generation CLIA (Clinical Laboratory Improvement Amendments, 1988) molecular diagnostic laboratory and a wholly-owned subsidiary of Sequenom, Inc.

The SensiGene CF Carrier Screening Test

  • This innovative test screens for 103 mutations and five variants, including the 23 mutations recommended by the American College of Medical Genetics (ACMG). This test has been shown to identify each of the 103 mutations and five variants through genomic DNA and DNA control testing.
  • The test offers superior detection rates and broader ethnic coverage when compared to the standard ACMG 23 recommended mutations panel. Because of the increased difficulty in assigning a single ethnicity to an individual, expanded CF panels can provide increased sensitivity for CF carrier screening for many individuals. Having a more comprehensive mutation panel is important as 1 in 17 CF carriers may be missed using a standard ACMG 23 CF carrier screening panel.
  • The test employs Sequenom's proprietary MassARRAY(R) system, which allows direct and label-free analysis of nucleic acids.

"As the world's population becomes more of a melting pot in terms of ethnicity and diversity, a more comprehensive test like the SensiGene Cystic Fibrosis Carrier Screening test is essential in the world of genetic testing," said Lee P. Shulman MD, Professor in Obstetrics and Gynecology and Chief of the Division of Reproductive Medicine at the Feinberg School of Medicine at Northwestern University.

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