Method for diagnosing renal diseases or predispositions

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C07K 14/435 (2006.01) G01N 33/53 (2006.01)

Patent

CA 2501606

The invention provides a method of diagnosing a disease or a predisposition to contract a disease by assaying for mutations of uromodulin (UMOD) within a test subject or patient. The presence of a mutation in the UMOD supports a diagnosis of a disease or a predisposition to contract a disease within the patient.

L'invention concerne une méthode permettant de diagnostiquer une maladie ou une prédisposition à contracter cette maladie. Cette méthode consiste à effectuer des analyses permettant de détecter des mutations de l'uromoduline (UMOD) chez un sujet ou un patient à tester. La présence d'une mutation de l'uromoduline corrobore un diagnostic d'une maladie ou d'une prédisposition à contracter cette maladie chez un patient.

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