Skip to main content
Premium Trial:

Request an Annual Quote

Sequenom Shares Rise on Positive Down Syndrome Test Study Results

NEW YORK (GenomeWeb News) – Shares of Sequenom rose nearly 22 percent today after the firm announced this morning that a blinded study showed that its molecular test for Down syndrome correctly identified 100 percent of all Down syndrome samples without any false-positive outcomes.
 
The San Diego-based firm conducted the study on 200 clinical samples collected prospectively and retrospectively. The SEQureDx technology that underlies the test “shows promise for significant performance advantages over the current paradigms for prenatal screening,” said Sequenom in a statement. The test uses a maternal blood sample that can be drawn as early as the first trimester and identifies directly the extra Number 21 chromosome, which is a marker for Down syndrome.
 
The firm intends to continue development of the test throughout 2008 and then transfer the technology to lab partners. Sequenom also intends to conduct a multi-site validation study using several thousand samples in the fourth quarter of 2008 and launch its own Down syndrome test as a Laboratory developed Test in the US during the first half of 2009.
 
Shares of Sequenom closed up 21.8 percent at $9.33 in heavy trading on the Nasdaq on Wednesday.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.