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Expanded Carrier Screening

When planning a family, information is powerful. QIAGEN Digital Insights is helping couples be informed and prepared.

Empowering couples to make informed decisions

Today, couples planning to have a child can know more about the health of their future family than ever before. With recent advancements in next-generation sequencing (NGS) technology, couples can now undergo expanded carrier screening to determine their risk of passing inherited disorders to their children. At QIAGEN Digital Insights, our expanded carrier screening solutions are enabling faster test turnarounds and greater risk discernment to help genetic testing labs and the clinicians they serve empower patients for informed decision-making.

DID YOU KNOW?

Each time two carriers of the cystic fibrosis conceive, there is a 25 percent chance of passing the disease to their children; a 50 percent chance that the child will be a carrier of the cystic fibrosis gene; and a 25 percent chance that the child will be a non-carrier [1].

Implementing expanded carrier screening at the point-of-care

Recent developments in laboratory technologies have led to the commercial availability of expanded carrier screening panels capable of assessing hundreds of mutations associated with genetic diseases. Expanded carrier screening panels have the ability to identify mutations that would otherwise not be detected.

Silicon Valley, California, United States

Lab performing expanded carrier screening boosts efficiency by 80%

A high-throughput population screening laboratory serving a network of more than 10,000 healthcare providers leveraged QIAGEN Clinical Insight (QCI) Interpret in their expanded carrier screening workflow to significantly reduce manual variant curation efforts and increase personnel efficiency by 80%.

Solutions for expanded carrier screening

HGMD Professional

The largest, manually curated resource for finding disease-causing mutations

QCI Interpret Translational

Software for rapid NGS variant annotation, filtering and triage

QCI Interpret

Clinical decision support software for NGS variant interpretation and reporting
Interested in our expanded carrier screening NGS panels?

Learn more about QIAGEN’s QIAseq Expanded Carrier Screening Panel.

Resources

On-Demand Webinar

Hear from Dr. Willian Kearns, founder of genetics testing lab AdvaGenix,  in an on-demand webinar, “Genetic Testing Lab Sees 25-Fold Scale-Up with QCI Interpret,” as he shares his lab’s experience.

White Paper

Read our white paper, “Lab Performing Expanded Carrier Screening Boosts Efficiency by 80%,” to learn how a major lab increased workflow ECS testing efficiency with QCI Interpret.

Brochure

Learn more about QIAGEN Clinical Insight (QCI) Interpret for Expanded Carrier Screening by downloading our digital brochure, featuring a solution overview and a sample report. 

eBook

Download our new eBook, “Interpreting NGS Tests for Inherited Disorders: Three trends that will change everything,” to learn about the latest innovation in genetic testing. 

References

  1. “Genes and Human Disease.” World Health Organization. https://www.who.int/genomics/public/geneticdiseases/en/index2.html

Product Disclaimer:

QCI Interpret is an evidence-based decision support software intended as an aid in the interpretation of variants observed in genomic next-generation sequencing data. The software evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases, annotations, drug labels, and clinical trials. Based on this evaluation, the software proposes a classification and bibliographic references to aid in the interpretation of observed variants. The software is NOT intended as a primary diagnostic tool by physicians or to be used as a substitute for professional healthcare advice. Each laboratory is responsible for ensuring compliance with applicable international, national, and local clinical laboratory regulations and other specific accreditations requirements.