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Hereditary Diseases

Empower clinicians and their patients to make critical and timely healthcare decisions with the latest publications and clinical evidence

7.9 million

infants are born each year with a serious birth defect


of all infant deaths are due to genetic disorders


individually recognized genetic disorders*

Leave no stone unturned

Trust is the cornerstone of doctor-patient relationships in the field of hereditary diseases. When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer.

Connected to the world’s most thorough knowledgebase of expert-curated and up-to-date content, QCI for Hereditary Diseases ensures you leave no stone unturned in your search for a diagnosis.

QCI Hereditary Disease applications:
  • Hereditary cancer 
  • Inherited disorders 
  • Rare and undiagnosed diseases 
  • Whole exome sequencing (WES)
  • Whole genome sequencing (WGS)

“We value QIAGEN’s commitment to deliver the highest quality of manually curated knowledge for analysis and interpretation of content through its extensive and comprehensive portfolio of solutions that enable accurate and standardized clinical reporting. Our experience of using QIAGEN’s HGMD for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource.”

Augusto Rendon, Ph.D., 
Director of Bioinformatics at Genomics England

The 100,000 Genomes Project

A world of evidence at your fingertips

The phrase, “knowledge is power,” couldn’t be truer when it comes to diagnosing hereditary diseases.

With QCI for Hereditary Diseases, you can be confident that every clinical recommendation you make is backed by the latest peer-reviewed publications and vetted by M.D. and Ph.D.-level expert curators who do the reading for you. 

Unlike other clinical decision support tools and search engines, QCI for Hereditary Diseases delivers manually curated evidence directly to your pipeline. You receive links to all articles, auto-computed ACMG/AMP classifications, and access to over 1 million unpublished variant-phenotype relationships from the QIAGEN Knowledge Base.

Hereditary disease testing solutions

HGMD Professional

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

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QCI Interpret

For molecular diagnostic labs performing variant interpretation and reporting in-house, QCI Interpret enables faster test turnaround times and higher confidence reporting for any assay on your sequencing platform.

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Clinical Testing Services

From pipeline development to secondary analysis and variant curation, QIAGEN Clinical Testing Services offers customized end-to-end clinical reporting solutions to fast-track your lab’s scalability and profitability goals.

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Testing for hereditary diseases?

Whether new to NGS or an experienced user, learn how QCI for Hereditary Diseases can increase your lab’s efficiency, confidence, and test menu offerings. 

Speak with a clinical testing expert today.


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QIAGEN Clinical Insights

Deliver patient-specific reports for any NGS panel in minutes with on-demand, expert-curated content and professional interpretation services

Clinical Analysis and Interpretation Services

Leverage the benefits of automation and expert support to improve test turnaround times and clinical reporting capabilities

*Wojcik MH, Schwartz BA, Yamin I, et al. Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities. Genet Med. 2018: 20(11): 1396-1404.

QIAGEN Clinical Insight (QCI) is an evidence-based decision support software intended as an aid in the interpretation of variants observed in genomic sequencing data. The software evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels, and clinical-trials. Based on this evaluation, the software proposes a classification 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.