QIAGEN powered by

Rare and Undiagnosed Diseases

Dramatically reduce the time needed to detect the cause of genetic illness with QIAGEN Clinical Insight (QCI ® ) for Rare and Undiagnosed Diseases, expert-curated knowledge, software and services for clinical testing labs.

Shortening the diagnostic odyssey

Today, it can take five years to get an accurate diagnosis, even in countries with sophisticated health systems. Too many families around the world bounce between physicians and specialists only to receive multiple misdiagnoses. The consequences can be devastating: delays in treatment that could save a child’s life or, when there is no treatment or cure, robbing families of peace of mind and the ability to plan for their child’s future.

QCI for Rare and Undiagnosed Diseases maximizes the chance of identifying disease-causing variants with streamlined workflow solutions that accelerate time to discovery and enable confident classification of rare pathogenic variants according to ACMG/AMP guidelines.

QCI for Rare and Undiagnosed Diseases applications:

“QCI has already proven a valuable resource for increasing the efficiency of [our lab’s] in-house curation. Work is underway to additionally incorporate QIAGEN’s continually updated bibliographies into the automated components of our variant classification workflows.”

Cox et al. Evaluation of QIAGEN Clinical Insight as a content resource for variant curation in a CLIA laboratory. Poster presented at: American Society for Human Genetics (ASHG) 2017

Evidence-based clinical offerings for rare diseases

QCI supports all NGS-based diagnostic tests regardless of test type or scale. Starting from either raw data or variant calls, from whole genome, exome, or panel tests, the QCI portfolio provides efficient workflows for annotating, interpreting, report generation, and sign-off.

QCI for Rare and Undiagnosed Diseases workflow solutions


Secondary NGS Data Analysis

Variant Filtering

Variant Interpretation and Reporting

Clinical Testing Services

HGMD Professional

Solve more cases faster, with data you can trust using HGMD Professional, the de facto standard resource for identifying inherited disease-causing mutations.

Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1993, HGMD Professional contains over 260,000 manually curated mutation reports from over 2,600 peer-reviewed journals. Updated quarterly, HGMD Professional is licensed exclusively through QIAGEN and offers clinical research labs pipeline access to the latest reports of all published inherited disease mutations.

Learn more >

QCI Analyze

Simplify and standardize the processing and analysis of NGS data with QIAGEN Clinical Insight (QCI®) Analyze, scalable software fueled by powerful algorithms to seamlessly convert FASTQ files to high quality variant lists.

Compatible with all major sequencing platforms, QCI Analyze efficiently converts FASTQ files to VCF files through preconfigured, comprehensive and scalable pipelines controlled by role-based permissions. The software uses powerful, globally recognized algorithms to pinpoint even the most difficult-to-detect variants and fusions.

Learn more >

Ingenuity Variant Analysis

Quickly prioritize variants with Ingenuity Variant Analysis, a web-based application combining analytical tools and expert-curated content from the QIAGEN Knowledge Base to help you filter down to a small, targeted subset of compelling candidates.

Connected to the industry’s most expansive collection of biological and clinical findings, sourced from over two decades of manual data and literature curation from more than 40 scientific and clinical databases, Ingenuity Variant Analysis leverages powerful algorithms and dynamic filtering to triage variants using both published evidence and your lab’s own experiential knowledge.

Learn more >

QCI Interpret

When it comes to classifying rare and complex variants, having access to as much data as possible is critical for accurately identifying and evaluating variants that could potentially contribute to the incidence of disease.

QCI Interpret is clinical decision support software that reproducibly translates highly complex next-generation sequencing (NGS) data into concise, clinician-ready reports, using current clinical evidence and all 28 criteria of the ACMG/AMP published guidelines for the assessment of variants in genes associated with Mendelian diseases.

Connected to the QIAGEN Knowledge Base, a continuously updated and manually curated resource spanning across 40 public and proprietary databases, QCI Interpret empowers your lab with the insight only two decades of expert curation can deliver.

The software provides full transparency to review the criteria and evidence supporting each classification and allows you to customize the final report to include the variants, interpretations and references specified throughout the assessment.

Learn more

Related Resources/h5>
QIAGEN Clinical Testing Services

Accelerate time to launch with clinical testing and informatics services focused on expanding and differentiating your test menu.

QIAGEN Clinical Testing Services deliver complete end-to-end testing solutions, fully customizable and capable of supporting a broad range of indications both now and in the future.

  • On-demand variant scoring and classification services Launch new test offerings faster while scaling your existing variant scientist team.
  • Customized reporting solutions Provide unique and differentiated report layouts for brand recognition.
  • Pipeline development and optimization Rely on one partner to monitor, develop and train your bioinformatics team.

Learn more >

Interested in our
rare or undiagnosed
diseases clinical testing solutions?

Request a consultation with one of our clinical informatics specialists to learn more about QCI for Rare and Undiagnosed Diseases and how the solution can be customized to support your current sequencing platform and unique assay.

Inherited Diseases

Empower tomorrow’s decisions with trusted insight today from QCI for Inherited Diseases.

Hereditary Cancer

Deliver clear insight into cancer predisposition risk with QCI for Hereditary Cancer.

Clinical Testing Services

Customize, manage and scale your precision medicine program with QIAGEN Clinical Testing Services.