New study shows potential of CytoScan DX Assay.

A new study has been published in Genetics in Medicine, assessing the clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability. With 1 in 33 babies born with congenital anomalies in the US, providing early interventions can provide a significant social impact to the population. Pushing the average age of diagnosis down from around 4 years, also has the potential to greatly reduce cost of treatment and management.

Alka Chaubey, Director of the Cytogenetics Laboratory at Greenwood Genetic Center

Alka Chaubey, Director of the Cytogenetics Laboratory at Greenwood Genetic Center

The study assessed the CytoScan DX Assay in 960 patients using the Riggs criteria of actionability to evaluate predicted clinical utility. It shows the assay to have similar diagnostic yields to other chromosomal microarrays. 35% of patients with abnormal findings were also predicted to have clinical management implications that could improve outcomes.

Alka Chaubey, Director of Greenwood Genetics Center’s (GGC) Cytogenetics Laboratory, was one of the key members of the study. “GGC’s efforts with Affymetrix and the other collaborators not only played a critical part in the FDA clearance for CytoScan Dx, but also demonstrate the clinical utility of this array,” shared Chaubey. “As the first lab to offer CytoScan Dx clinically in the US, this is a major step forward for the patients we follow with developmental and intellectual disabilities – to provide them with not only an answer, but often a clinically actionable answer.”

More on these topics