Lab performing expanded carrier screening boosts efficiency by 80%

Learn how a high-throughput population screening laboratory significantly scaled-up it's variant interpretation workflow with QCI Interpret

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.

VIRTUAL DEMO

How to scale your carrier screening workflow by 80%

Expanded carrier screening (ECS) panels can detect rare mutations across hundreds of genes, which require meticulous literature searches that increase turnaround time and decrease accuracy.

Watch this video and learn how your genetic testing lab can scale your ECS workflow by up to 80% using QCI Interpret, clinical decision support software integrated with the industry’s largest knowledge base.

Solutions for expanded carrier screening

HGMD Professional
The largest, manually curated resource for finding disease-causing mutations
LEARN MORE
QCI Interpret Translational
Software for rapid NGS variant annotation, filtering and triage
LEARN MORE
QCI Interpret
Clinical decision support software for NGS variant interpretation and reporting
LEARN MORE
Interested in our expanded carrier screening NGS panels?

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

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.

Sample to Insight
linkedin facebook pinterest youtube rss twitter instagram facebook-blank rss-blank linkedin-blank pinterest youtube twitter instagram
This site is registered on wpml.org as a development site. Switch to a production site key to remove this banner.