ECFS Diagnostic Network Working Group


Dr. Nico Derichs (Germany)

 Dr. Nico Derichs

Contact the Diagnostic Network Working Group
Nico Derichs

DNWG Assistant: Valerie Mühlbacher (Germany)


  Last Updated:
  22 June 2016


The ECFS 14th Annual Diagnostic Network Working Group Meeting will take place in Ljubljana, Slovenia on 16-18 February 2017

Annual report of the Diagnostic Network Working Group

Available here 

ECFS Diagnostic Network Working Group Meeting - Basel 10 June 2016

Our DNWG Meeting took place at the ECFS Conference in Basel on Friday, 10th of June 2016.

Please click here to see the meeting programme.

New project: Real life practice of sweat testing in Europe and development of an ECFS sweat test guideline for diagnosis of CF

A project performed by the ECFS Diagnostic Network Working Group
Project Core Group: Natalia Cirilli, Kevin Southern, Jürg Barben, Lutz Nährlich, Anne Munck, Michael Wilschanski, Kris De Boeck, Nico Derichs

More info

Dear Colleagues, 
On behalf of the ECFS Diagnostic Network Working Group, we are performing a survey about the current sweat test practice in Europe. 
The aim of the project is to better understand and improve sweat test practices in European countries, and to develop harmonised European recommendations on sweat testing (ECFS sweat test guideline for diagnosis of CF). 
We kindly invite you to join this project and to share your experiences with sweat test for the diagnosis of CF at your center. This survey will take approximately 20-30 minutes to complete. We ask that each center fills in the survey with input from both the responsible CF clinician and laboratory. You will require some data on the number of sweat tests undertaken in 2014 and outcomes. All participating centres/contributors will be acknowledged in the description of the study group. 
The link to participate in the survey is:

Please reply to the survey by 30 November 2015.

If you have any questions, do not hesitate to contact Natalia Cirilli on: 
We thank you for your kind collaboration.

Natalia Cirilli 
Nico Derichs

New Project: Complete CFTR gene mutation analysis in European patients with Cystic Fibrosis .

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

More info

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.

Criteria for inclusion:

  • the local CF physician confirms the diagnosis of ‘classic’ CF according to the European CF diagnostic criteria (Thorax 2006): patient has symptoms compatible with CF OR a sibling with CF OR a positive test at newborn screening AND a  sweat chloride value >60 mmol/L.
  • routine CFTR mutation screening panels have not allowed identification of 2 CF-causing CFTR mutations.
  • a signed written informed consent, according to the institute’s ethical committee regulations and approvals, is signed by the patient and the local physician and archived locally. This consent must include that the mutation information and the clinical data of the patient will be listed anonymously in a central archive and that the results of the entire project will be published in a scientific journal.
  • patient does not reside in UK, Spain or Czech Republic (separate program is available).
  • 2 to 5 microgram of DNA is available.

How to proceed:

  1. Send duly filled out request for CFTR gene analysis to
  2. Approval /rejection of request will be mailed to the applicant physician within 2 weeks
  3. For approved requests, send 2-5 microgram of DNA to Martine Jaspers, Campus Gasthuisberg, O&N2, Exp. ORL, trilhaarlabo (7de verdiep), Herestraat 49, bus 721, 3000 Leuven, Belgium 
  4. Mail that the DNA sample has been sent

Project Request Form: .

The project is supported by a grant of Vertex Pharmaceuticals

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