Rare and Undiagnosed Diseases
Finding a diagnosis for rare diseases is often a race against time. QIAGEN Digital Insights is helping provide answers where none were available before.
Ending the diagnostic odysseys of rare diseases
People living with rare disease often face a diagnostic odyssey, typically waiting years for a diagnosis and receiving multiple misdiagnoses along the way. At QIAGEN Digital Insights, our clinical exome testing solutions are speeding up the rare disease diagnosis timeline. As the owner and operator of the world’s largest, most up-to-date expert-curated knowledge base of biological and clinical findings, QIAGEN Digital Insights ensures genetic testing labs leave no stone unturned in their search for answers.
Rare Diseases in the US
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Genetic in Origin
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Average Years to Diagnosis
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Whole-exome sequencing for the diagnosis of rare disorders
Whole-exome sequencing (WES) has shown an unprecedented success rate in the identification of disease-causing genetic variants. On average, 25 to 32 percent of patients who undergo clinical exome testing receive a diagnosis [1]. WES testing examines all the protein-coding regions in the genome (exons) simultaneously. Approximately 85% of all disease-causing mutations are located within the exons [2]. By casting a wider net, WES increases the chance of reaching an accurate diagnosis.
Çukurova University Hospital, Adana, Turkey
Accelerating rare variant analysis and interpretation
Dr. Atil Bisgin at Çukurova University Hospital in Adana, Turkey manages one of the largest databases for rare hereditary diseases in the world. Using QIAGEN Clinical Insight (QCI) Interpret, Dr. Bisgin is rapidly identifying causative mutations in rare diseases.
Solutions for clinical exome testing
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 human exome NGS panels?
Learn more about QIAGEN’s QIAseq Human Exome Kits.
Resources
On-Demand Webinar
Hear from our experts in an on-demand webinar, “Increasing the Efficiency of Diagnostic Odysseys,” as they discuss variant interpretation in whole-exome sequencing applications.
White Paper
Read our white paper, “Avoiding the Knowledge Blindspot in NGS Testing,” to learn about the importance of having access to the most up-to-date evidence when interpreting genetic tests.
Case Study
Learn how Dr. Atil Bisgin and his colleagues at Çukurova University Hospital in Adana, Turkey uses QIAGEN Clinical Insight (QCI) Interpret to rapidly identify causative mutations in rare diseases.
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
- Nambot, S., Thevenon, J., Kuentz, P. et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med 20, 645–654 (2018). https://doi.org/10.1038/gim.2017.162
- Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59,5–15 (2014). https://doi.org/10.1038/jhg.2013.114
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.