MaterniT21 laboratory-developed test diagnostic data

A blinded, nested case-control validation study analyzing 212 Down syndrome and 1,484 unaffected matched control pregnancies showed that Sequenom's MaterniT21 LDT had 98.6% sensitivity and 99.8% specificity for detecting fetal trisomy 21 Down syndrome. The study analyzed maternal plasma samples from 4,664 women at 10-22 weeks gestation who were at high-risk for carrying a fetus with Down syndrome. Data were published in Genetics in Medicine. Last week, Sequenom launched the LDT in the U.S. The test is performed at the company's CLIA-certified lab on the HiSeq2000 sequencer from Illumina Inc. (NASDAQ:ILMN, San Diego, Calif.). Sequenom plans to submit a regulatory application to FDA for an in vitro diagnostic (IVD) version of the Down syndrome LDT in late 2012 or early 2013. ...