The firm's shares jumped in early trade after a study published online on the American Journal of Obstetrics and Gynecology website showed the firm's T21 test demonstrated 100 percent sensitivity and 99.7 percent specificity.
While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.
The technique could be used to diagnose diseases such as mental retardation, where copy number variation is a key characteristic, and as a screening tool to look for cancer biomarkers and assess drug effectiveness, the researchers said.
Quest, whose ClariSure test is based on a bacterial artificial chromosome array, is also considering adopting oligonucleotide array-based platforms sold by companies such as Affymetrix, Agilent Technologies, Illumina, and others.
There was evidence at the conference that SNP and CGH arrays have made considerable inroads into the cytogenetics market over the past few years, but a number of talks addressed issues that clinicians face as they look to bring arrays into their practice.
In separate interviews, researchers at Baylor College of Medicine, Signature Genomic Laboratories, and the Children's Hospital of Philadelphia recently discussed how new arrays sold by Agilent, Affy, and Illumina affect their cytogenetics services.