Special Offers & Promotions



Latest News



View Channel

New Products



View Channel

Video Presentations



View Channel

Separation Science



View Channel

Microscopy & Image Analysis



View Channel

Laboratory Automation & IT Solutions



View Channel


Sophia Genetics Launches Full CFTR Analysis in Single Clinical Grade NGS Experiment

publication date: Oct 30, 2014
author/source: Sophia Genetics

Sophia Genetics, the European leader in Clinical Genomics and Next Generation Sequencing (NGS) data analysis, today launches a unique CFTR IVD Solution allowing clinicians to run full cystic fibrosis analysis in a single NGS experiment.

Sophia GeneticsThe CE-IVD marked solution covers the identification and characterisation of all types of variants in a single NGS experiment with clinical grade analytical performance.

Until now, it has not been possible to simultaneously analyse all relevant CFTR variants in a one-step NGS experiment. But Sophia Genetics has made two major breakthroughs, which enable the Sophia Data Driven Medicine (DDM) platform to identify and characterise all types of variants in a single NGS experiment with clinical-grade analytical performance.

First, Sophia Genetics designed and validated a powerful statistical method to reliably and accurately detect Copy-number Variations for clinical diagnostics use. Second, the company designed and validated a unique realignment algorithm to accurately detect variants in the poly(T) and poly(TG) stretches in intron 8 and distinguish between the various combinations of repeat lengths.

By detecting all CFTR types of variants in a single NGS experiment, Sophia Genetics’ customers save the time and cost associated with an additional reflex experiment and an MLPA experiment. Following Sophia Genetics’ Fast Track Validation Program, the NGS-based CFTR test can be moved to routine testing in only one week.

Jurgi Camblong, CEO of Sophia Genetics, said:

“Data Driven Medicine has the potential to transform how we address debilitating congenital diseases, including cystic fibrosis. But for that to happen, clinical laboratories need solutions which can analyse the data produced by NGS sequencing to a clinical standard. At Sophia Genetics, we are committed to setting the gold standard for NGS data analysis and making clinical diagnosis much simpler, faster and easier for our lab customers.”

The CE-IVD marked solution running on the Sophia DDM platform helps clinical laboratories to reduce the cost and time of the CFTR analysis and facilitates their ISO 15189 accreditation. As part of its commitment to quality, Sophia Genetics will seek to obtain the CE-IVD mark for each of the genetic tests it supports.

more about sophia genetics


Subscribe to any of our newsletters for the latest on new laboratory products, industry news, case studies and much more!

Newsletters from Lab Bulletin


Request your free copies HERE




Popular this Month

Top 10 most popular articles this month



Today's Picks



Looking for a Supplier?

Search by company or by product


Company Name:






Please note Lab Bulletin does not sell, supply any of the products featured on this website. If you have an enquiry, please use the contact form below the article or company profile and we will send your request to the supplier so that they can contact you directly.

Lab Bulletin is published by newleaf marketing communications ltd.


Media Partners


Exhibitions & Events