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Congenica Rare Disease

The impact of rare diseases

Worldwide, more than 350 million people are affected by rare diseases. Unfortunately, an accurate diagnosis can often take many years, putting significant emotional and financial strain on patients, families and healthcare systems alike.

Deciphering Developmental Disorders

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The Real Cost of Rare Disease

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Congenica is an absolute game changer, enabling us to be certain about our analysis.

Dr Tessa Homfray Consultant in Medical Genetics, NHS

Rare diseases and genomics

With the increasing understanding that most rare diseases are caused by genetic mutations, next generation sequencing (NGS) is rapidly becoming the standard method for analysis. The large amount of often complex sequencing data that needs to be analysed and interpreted, however, remains a major bottleneck in the interpretation process.

See what our customers say about Congenica

READ OUR CUSTOMER TESTIMONIALS

Resolving the Interpretation Bottleneck

VIEW OUR RARE DISEASE BROCHURE
Rare disease brochure front cover

Maximise workflow and increase diagnostic yield with confidence

To help clinicians and healthcare providers across the globe, we have developed a state-of-the-art, AI-powered Platform for rapid interpretation in routine clinical care.

 

Our highly flexible, automated and CE-marked solution enables rapid analysis of next generation sequencing data from gene panels to whole genomes and can be deployed in the cloud or on premise to suit your needs.
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Rapid turnaround time

Automated processes for fast and accurate analysis supported by machine learning and AI

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High analytical yield

Increased analytical yield compared to our competitors due to expertly curated reference databases, automated variant prioritisation and AI-driven variant identification.

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Commitment to Quality

Validated, accurate and secure platform for high confidence in actionable clinical information (see footnote for further details)

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Ultimate flexibility

From gene panels to whole genomes, SaaS or on premise, we offer ultimate flexibility to support all customer needs

Delivering results at scale

Genomics England has been successful in delivering the groundbreaking 100,000 Genomes Project and establishing the world’s first national health service to offer whole genome sequencing. As partner to Genomics England and the exclusive analysis partner for the NHS Genomic Medicine Service, we have adapted our platform to drive the analysis of whole genomes at national scale. 

 

Read more about our work with Genomics England. 

READ THE CASE STUDY
20 fold reduction ALL SAME PIC
95% stat ALL SAME PIC
50% increase in analytical yield
200 stat ALL SAME PIC

Congenica has been able to process a huge number of samples for the 100,000 Genomes Project and routinely process thousands of samples for Genomics England every month. Working with Congenica we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale.

Dr Augusto Rendon Director of Bioinformatics of Genomics England

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