A new high-throughput, microarray-based assay from Thermo Fisher Scientific, Waltham, Mass, is designed to detect more than 6,000 genomic variations associated with inherited disease. The CarrierScan assay provides molecular genetics laboratories with a consolidated and automated panethnic solution for expanded carrier status research.

Carrier screening has traditionally been targeted toward specific populations known to have an increased risk of particular disorders. However, the growing ethnic diversity among global populations, coupled with advances in genetic research technologies, has led the American College of Obstetricians and Gynecologists (ACOG) to update its screening recommendations. The college’s latest guidance calls for a standard approach that can be consistently offered and discussed during family planning, regardless of ethnicity.

Doron M. Behar, MD, PhD, Gene by Gene.

Doron M. Behar, MD, PhD, Gene by Gene.

“The recently updated recommendation from ACOG to offer a consistent approach for carrier screening speaks to the growing need for genetic information that could be used for family planning in the future, particularly for those with elevated risk of recessive mutations carrier status,” says Doron M. Behar, MD, PhD, chief scientific officer of Gene by Gene, Houston, Tex. “Launch of CarrierScan will be an important advance for our lab’s clinical research.”

The CarrierScan assay is a comprehensive, panethnic research solution that enables laboratories to assess genomic variation associated with more than 600 genes involved in inherited diseases such as cystic fibrosis and thalassemia. In all, the assay is designed to detect more than 6,000 mutations, including biallelic and multiallelic single nucleotide variants, indels, and copy number variations, in challenging regions such as highly orthologous genes and pseudogenes.

The 600-gene content included in the assay is based upon empirical selection of probes and biological verification of the most common variants. The design and verification process aims to enable reproducibility and confidence in the results of broad screening research.

The assay is performed on the Applied Biosystems GeneTitan multichannel instrument for fully automated, high-throughput array processing. Laboratories have the choice of manual or automated sample preparation for complete flexibility to meet specific productivity needs. To optimize population-specific applications, the assay is customizable for the particular genetic diversity that is being studied. CarrierScan Reporter software for rapid and simple analysis and annotation is also available at no additional fee.

“CarrierScan assay represents our commitment to enable our clinical research and molecular laboratory customers to stay competitive and on the cutting edge of expanded carrier research,” says Laurent Bellon, PhD, vice president and general manager of microarrays at Thermo Fisher Scientific. “This assay offers researchers access to a consolidated expanded carrier research analysis tool that will enable them to meet the demands of the rapidly growing reproductive health market.”

For more information, visit Thermo Fisher Scientific.