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Dear Colleagues, We are happy to include your patient in our mutation analysis in single-gene causes of nephronophthisis. Please inform the patient/parents that this process may take more than 6 months. If you do not hear from us that means we have not found the disease-causing mutation. In case we find the disease-causing mutation we may help you initiate CLIA-certified mutation analysis. We will provide free shipment for the blood samples. To get started, please follow the instructions below. Thank you for your interest! |
Disease |
Genes |
Paperwork/Unterlagen |
Nephronophthisis |
NPHP1 . . . NPHP13 |
I have not completed CITI-Training: "How-to manual - PDF document" I have completed CITI-Training: Please contact Dr.Konstantin Deutsch If you are an enrolled collaborator and the participant is an English speaker, please click here If you are an enrolled collaborator and the participant is a non-English speaker, please click here |
Last update on May, 2019