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How rare is rare?



1 in 10

people are affected by rare disease


of rare disease cases are caused by a faulty gene


types of rare disease exist

Across 23,000 genes and 3.2 billion bases,

1 faulty gene takes 8 years to find.


Shorten the diagnostic odyssey

QIAGEN believes that tomorrow’s diagnoses begin with insight today.
While other companies tend to focus on workflow instrumentation, we focus
on extracting actionable information from NGS data–the last mile in the
race for diagnosis of a rare genetic disease.

Empower better health

QIAGEN’s HGMD® Human Gene Mutation Database has been selected by Genomics
England to support a national network of United Kingdom laboratories that provides
all genetic testing for National Health Service (NHS) patients across the country.



Zero-in on causal variants, fast

“With the Biomedical Genomics Workbench and Ingenuity Variant Analysis, we were able to identify the disease-causing variant directly in our whole exome sequencing trio family. As there were no additional, non-disease-causing candidates to filter out, the time to result and the manual hands-on time could be reduced by more than 50% in comparison to our standard workflow.”

Andreas Rump, PhD, Head of Molecular Genetics Group, Institute for Clinical Genetics, Dresden, Germany

Solve more cases

“..there are clear benefits for adopting QIAGEN Clinical Insight (QCI®) for reference identification: an exceptionally high variant-specific article coverage, and significant time savings in a search process that can take up to ~45 minutes. QCI has already proven a valuable resource for increasing the efficiency of Counsyl’s in-house curation.”

Counsyl, San Francisco, CA