Genomic Vision has delivered a high-throughput genome analyzer now operational at the Quest Diagnostics clinical laboratory in San Juan Capistrano, California.

Under terms of the collaboration, Quest Diagnostics has the right to use the instrument to create an additional laboratory-developed test for the detection of mutations in the BRCA gene, which can cause hereditary breast and ovarian cancer, and other complex diseases.

The test would potentially supplement Quest’s BRCAvantage suite of BRCA test services based on next-generation sequencing.

Genomic Vision’s molecular combing technology allows the fluorescent barcoding of multiple genes involved in disease development giving each target gene a specific Genetic Morse Code. The analyzer detects and identifies signature data coming from the Genetic Morse Code.

It provides a multiplexed solution to detect genomic aberrations involved in complex diseases such as cancer, muscular and neuronal development disorders.

The new analyzer was developed to increase throughput of diagnostic screening volume and reduce turnaround times, for faster results reporting.

In addition to BRCA, the collaborative terms also give Quest Diagnostics the option to use the platform to accelerate the development of lab-developed tests for other hereditary cancers, such as Lynch syndrome or hereditary nonpolyposis colorectal cancer, as well as spinal muscular atrophy.

Genomic Vision and Quest Diagnostics entered into a multi-year exclusive collaboration based on Genomic Vision’s proprietary molecular combing genome-analysis technology in 2010. In 2013, Quest Diagnostics introduced the first lab-developed test, for FSHD, a debilitating myopathy, based on Genomic Vision’s technology in the United States.

"We are very pleased to offer, on time, to our US partner the new genome analyzer. This achievement was made possible due to the strong involvement of our teams and I would like to thank all our employees that took part on this important challenge," said Aaron Bensimon, Genomic Vision’s co-founder and chairman.