Thermo Fisher Scientific Introduces New Carrier Screening Research Tool
A new high-throughput, microarray-based assay designed to detect more than 6,000 genomic variations associated with inherited disease now provides molecular genetics laboratories with a consolidated and automated, single pan-ethnic solution for expanded carrier status research. Thermo Fisher Scientific announced the CarrierScan™ Assay at the 2017 ACMG Annual Clinical Genetics Meeting.
Advances in genetic analysis tools are revolutionizing reproductive health and transforming the way carrier screening research is being conducted. Traditionally, molecular research laboratories have focused on analyzing just a few genetic changes that cause inherited diseases, and are known or assumed to be associated with an individual’s ethnicity. With the identification of more causative variants—both sequence and structural—and increasing ethnic diversity in certain regions, it is becoming significantly important to expand carrier screening research to include more variants and diseases.
The Applied Biosystems™ CarrierScan™ Assay is an innovative, comprehensive, and high-throughput microarray-based tool for the reliable and robust detection of sequence and structural variation for preconception expanded carrier screening research across a wide range of ethnicities.
The unique feature of this tool is the ability to consolidate multiple copy number and genotyping tests into a single molecular assay. With simple data analysis and reporting software included in the complete solution, high-throughput molecular labs can generate all relevant carrier screening research data quickly.
The CarrierScan Assay detects 6,000 sequence and structural variants in over 600 genes for 600 diseases, informed by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) guidelines from well-curated, prominent databases and peer-reviewed literature.
The assay is run on the Applied Biosystems GeneTitan Multi-Channel (MC) 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. The CarrierScan Reporter software for rapid and simple analysis and annotation is also available at no additional fee.
