Trisomy 21 test is used for the diagnosis of Down syndrome, using multiple RNA fetal markers, including the PLAC4 gene

SEQUENOM, Inc. announced that it will be completing the study of Trisomy 21 test by June 2010.

The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother’s blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.

This 5000 patient study is currently recruiting participants. The official title of the study is “Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker – A Phase III LDT Study”.