es en


Any questions? Check out our FAQs

What kind of sample is needed for molecular genetic study?

Samples of whole blood are usually received, whose delivery conditions can be downloaded in PDF in the sample submission section. If you wish to send DNA samples please contact us at

How is the outcome of the genetic study informed?

The result of the molecular analysis of each sample will be notified to the referring physician.

Can I get information from other participating patients or centers?

The information in each case is only known by the referring physician and the principal investigators. However, a general report or newsletter will be issued periodically, which will be available to all registered physicians, who will not disclose data that may interfere with the confidentiality of patients.

What is the policy of scientific dissemination of the work that is derived from the data obtained?

  •  One of the objectives of this portal is to disseminate the relationship between the molecular findings and the clinical variability of patients with primary tubulopathies. The scientific publications derived from the information obtained will be multicenter studies, with the collaboration of all participants who have included patient data at the base.
  • If a doctor does not want his patients to be part of a specific publication, you can request it through the contact form.
  • In each article, the research group of each tubulopathy in question will be included as main author (s) and as co-authors those who contributed more than 10% of the patients with this pathology or who actively help In the preparation and writing of the manuscript. If the collaboration is small, the name of the participant will be included in the renaltube equipment.
  • By participating in this project by including patients in the database, the publication policy described above is accepted.

Where do I find the informed consent template?

Each tubulopathy has in its folder a specific informed consent of clinical data and another one for the genetic analysis that you can download in PDF. Once signed, it must remain in the medical record at its home hospital. In addition, a copy of the consent for the genetic analysis must be sent to the destion laboratory together with the samples of the case and of the parents.