Qiagen, Hilden, Germany, and Germantown, Md, has introduced seamless next-generation sequencing (NGS) solutions for a wide range of hereditary diseases on the GeneReader NGS system. The launch includes customizable QIAact target enrichment panels for analysis of more than 13 hereditary disease groups.


Peer M. Schatz, Qiagen.

The products integrate Qiagen’s clinical insight (QCI) bioinformatics analysis and interpretation software with hereditary disease data from the company’s human gene mutation database, to deliver clear, actionable reports.

The integrated solution enables analysis of specific sets of genetic hereditary disorders of interest, including cystic fibrosis, inherited cancers, inherited cardiovascular diseases, universal carrier screening, and other hereditary conditions.

“Genetic laboratories are eager to gain deeper insights into a range of hereditary diseases using the power of NGS technology but have been held back by the lack of complete workflows and powerful bioinformatics solutions,” says Peer M. Schatz, CEO of Qiagen. “We are pleased to offer the first complete sample-to-insight solution for analysis of hereditary diseases. Our solution, anchored by the GeneReader NGS system, provides the complete solution that labs need to efficiently and reliably perform genetic analysis.”

GeneReader NGS

The GeneReader NGS system from Qiagen

The GeneReader expansion for analyzing hereditary diseases broadens the system’s QIAact panel menu beyond its initial focus on gene panels for oncology and will further support placements of Qiagen’s end-to-end solution in labs worldwide. In addition, Qiagen offers a customization service, which enables an unlimited assay menu by tailoring panels to customer specifications.

QCI is an integrated solution for NGS analysis and interpretation in clinical settings. It incorporates the human gene mutation database, a unique resource containing comprehensive data on inherited disease mutations for genetic and genomic research. The human gene mutation database offers research and clinical labs a comprehensive and easy-to-use database to connect disparate genetic and clinical findings and identify inheritance patterns.

To learn more, visit Qiagen.

Featured image: Qiagen’s GeneRead QIAact Myeloid panel for use in leukemia covers relevant genetic variants for a number of myeloid malignancies. Photo © Qiagen; all rights reserved.