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In order to apply for the test, please follow these steps:


Download the necessary information to apply for the test by completing the form on the right.

The documents consist of:

  • A general information document
  • A form to be filled out with the patients’ information
  • A consent form for genetic analysis to be filled out by the patient or his family (available in 14 languages – to choose by clicking on the corresponding flag)

These forms are fillable PDFs and you can type the information electronically.

If the request is urgent, please indicate it clearly.

(We kindly request you to leave your e-mail address so that we can contact you directly if needed.)


Prepare your samples.

For NAGS testing:

  • EDTA blood (1 ml, not centrifuged) or DNA, to be sent at room temperature, no express required
  • Fibroblasts are also possible but usually not necessary
  • Dried blood spots are also feasible in most cases

For CPS1 testing:

  • Heparin blood (1 ml, not centrifuged), to be sent at room temperature by express (needs to be in our lab within 48 hours)
  • Cultured fibroblasts (takes longer than analysis using heparin blood)

Additional information:

  • Parental samples (DNA) are always welcome to be included
  • A copy of the consent into genetic studies should be included


Send the samples.

Please send the samples together with the documents completed to the following address:

Prof. Dr. med. Johannes Häberle
University Children's Hospital
Division of Metabolism
Steinwiesstrasse 75
CH-8032 Zürich

Telephone+41 44 266 73 10
Fax+41 44 266 71 67


Please complete the following information for administrative purposes, and you will be able to download the patient consent form and the information to apply for the NAGS DNA test directly from this website.

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