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Dennis Lo of the Chinese University of Hong Kong, who led the study, said that the three trisomies — 21, 13, and 18 — could be incorporated into one sequencing-based diagnostic test, but that he would likely develop the trisomy 21 test first, and then add trisomy 13 and 18 detection later.

The company will conduct the clinical validation study on 500 samples in conjunction with several European prenatal centers.

The firms have begun a validation sudy of the Down syndrome test, which runs on Illumina’s HiSeq platform.

LifeCodexx parent company GATC Biotech has ordered a PacBio RS instrument, which the companies plan to investigate for use in their test protocol.

The company will investigate the use of PacBio's RS platform for use in the test protocol.

In the company's first-quarter earnings call, Sequenom CEO Harry Hixson said he believes that other companies developing similar sequencing-based trisomy 21 tests are infringing Sequenom's intellectual property.

Anticipating that NGS will become a key clinical tool in coming years, several proteomics firms and researchers are investigating it as a platform for protein biomarker detection assays that use nucleotides as capture agents, hoping to take advantage of the technology's precision and multiplexing ability.

The timing of Verinata's commercial test coincides with the planned launches of trisomy 21 tests by Sequenom and LifeCodexx, both of which plan to commercialize their sequencing-based tests at the end of the year or early next year.

Using a sequencing method and proprietary algorithm based on technology licensed from Stephen Quake at Stanford University, the researchers correctly identified all trisomy 21 and trisomy 18 cases.

LifeCodexx recently completed a pilot study of 45 patients on Illumina's Genome Analyzer, but plans to switch to the HiSeq 2000 for a clinical validation study and for the commercial version of the test.


Researchers have sequenced the genome of the depth-dwelling giant squid.

Prosecutors have charged a former Drexel University professor with theft for allegedly spending federal grant money on adult entertainment and other unrelated expenses, according to the Philadelphia Inquirer.


Chris Collins, a former US representative, has been sentenced to more than two years in prison in an insider trading case involving an Australian biotechnology firm, the New York Times reports.

In PNAS this week: Trypanosoma brucei transcripts, estimate of people at risk of inherited retinal disease, and more.