Do you need a clinical research whole exome service for complex patient cases, with world-class clinical interpretation that is trusted by Genomics England?
BGI is proud to have partnered with Congenica, an industy leader in clinical variant interpretation software trusted by Genomics England, to offer the BGI-Xome service.
- In-depth clinical research report reviewed by UK clinical scientists
- World class sequencing quality with experience of over 10,000 clinical exomes
- Rapid TATs and cost efficient pricing
Get in touch for a no-obligation discussion about your needs.
The human exome is the complete collection of regions of the genome that encode protein. These regions of the genome are the best understood and therefore the most biomedically interpretable. About 85% of disease-causing mutations detected to date are located in the exonic regions of genes.
A whole exome sequencing test therefore involves sequencing the patient’s exome in a single test with the aim of arriving at a diagnosis, rather than choosing individual genes to sequence.
The BGI-Xome sequencing service, offers a fast and cost-effective one-stop solution which involves sequencing the entire coding region or exons, examining thousands of genes simultaneously.
BGI-Xome is ideal for for complex cases where a patient may have been on a ‘diagnostic odyssey’.Download Brochure
Genetic disease raises many questions. We’re empowering healthcare providers with the information they need to answer these questions, in order to both prevent disease and better guide patient treatment decisions.
With more than 5 years’ experience in diagnostic testing and screening, and a worldwide network of offices and laboratories, BGI acts as one of the world’s most tried and trusted clinical genomics partners.