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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.


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