Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Nephrogenic diabetes insipidus other diagnostic studies
Introduction
Overview
Overview
Other Diagnostic Studies
Other Diagnostic Studies
Molecular Genetics
Testing Strategy
To establish the diagnosis in a proband:
- Since most NDI is caused by AVPR2 mutations, molecular genetic testing of a symptomatic individual, male or female, usually starts with AVPR2 sequencing. If no mutations are found, AQP2 sequencing is performed.
- In affected children (male or female) from consanguineous parents, AQP2 sequencing is performed first, followed by AVPR2 sequencing if no mutation in AQP2 is identified.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]