New Project

Complete CFTR gene mutation analysis in European patients with Cystic Fibrosis


To provide a service for highly parallel sequencing of the complete CFTR gene (including intronic and promoter regions) in patients with confirmed CF (maximum 5 patients per individual site) in whom a disease-causing mutation was not found on both CFTR genes.

Project Leader

Harry Cuppens (geneticist) and Kris De Boeck (clinician) 

In cooperation with the ECFS Diagnostic Network Working Group (Nico Derichs)

Supported by a grant of Vertex Pharmaceuticals

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