SensiGene Cystic Fibrosis Carrier Screening Test

Filed in archive Diagnostics, Methodologies and Instrumentation on September 20, 2009

Sequenom has launched the SensiGene Cystic Fibrosis (CF) Carrier Screening Test, a carrier screening genetic test that helps to identify individuals who may have an increased risk of having a baby with certain genetic conditions.

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® system, which allows direct and label-free analysis of nucleic acids.

This test is available exclusively through the Sequenom Center for Molecular Medicine, a next-gen CLIA molecular diagnostic lab and wholly-owned subsidiary of Sequenom.