Sequenom's wholly-owned reference laboratory, the Sequenom Center for Molecular Medicine (Sequenom CMM), has authorized commencement of a pivotal clinical validation study.
The validation study is designed to evaluate the clinical performance of the SensiGene T21 Laboratory Developed Test (LDT) for the detection of an overabundance in maternal blood of chromosome 21, which is associated with fetal chromosome 21 aneuploidy.
Sequenom said the testing of the clinical specimens will be performed at the Sequenom CMM facility in San Diego.
Reportedly, in September 2010, Sequenom CMM completed an R&D ‘locked-assay’ verification study, which was performed on the GAIIx sequencer (Illumina, CA) and the laboratory has been engaged in additional equivalency studies using the more advanced HiSeq 2000 sequencer (Illumina).
Sequenom CMM scientists and Sequenom’s oversight committee reviewed data from the equivalency studies and authorized the start of the LDT clinical validation study using the HiSeq 2000.
Sequenom chairman and CEO Harry Hixson said they are delighted that Sequenom CMM will initiate the LDT clinical validation study.
"We remain very pleased with the results of the 480 sample R&D verification study that was completed in September 2010. Results from our just completed HiSeq 2000 equivalency study met pre-specified requirements that now allow us to proceed confidently with the validation study," Hixson said.
"The LDT clinical validation study is an important next step in confirming the trisomy 21 test performance in a large sample cohort."