NEW YORK (GenomeWeb) – Greenwood Genetic Center announced that it will offer Affymetrix's CytoScan Dx Assay chromosomal microarray analysis test, which scans a patient's genome for genetic causes of developmental delays, intellectual disabilities, and congenital abnormalities.
According to the Greenwood, SC-based center, it is the first US lab to offer the CytoScan Dx test.
The company received US Food and Drug Administration clearance early this year for the assay for use in pediatric constitutional cytogenetic testing. The test also has a CE-IVD mark allowing it to be sold for clinical use in Europe.
GGC said that it partnered with Affymetrix in clinical trials to demonstrate the assay's safety and effectiveness, and that it provided half of the 960 clinical samples used in the validation component of these studies. These studies found the CMA technology had improved ability to detect certain chromosomal abnormalities over standard chromosome testing and other commonly used tests, according to GGC.
The CytoScan Dx will be offered through the GGC Cytogenetics Laboratory, which currently analyzes approximately 1,500 CMA clinical samples per year.
"Two to three percent of children in the United States have some degree of intellectual disability and 1 in 33 newborns have a congenital anomaly," GGC Director Steve Skinner said in a statement. "Many of these are associated with genetic changes, and for these families, finding a diagnosis with the traditional tests can be a journey that, if ever realized, may take months or even years. This new test accelerates the diagnosis, and opens up more possibilities for better understanding of these conditions allowing us to move closer toward effective treatments," Skinner said.
As reported by BioArray News earlier this month, Affymetrix CEO Frank Witney said during the firm's second quarter earnings call that the company is working with consultants and payers to optimize reimbursement for the test.