Diabetes Insipidus: Arginine Vasopressin V2 Receptor (AVPR2) Sequencing

Diagnostic Use

X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal Arginine-Vasopressin V2 receptor responses due to inactivating mutations in the AVPR2 gene. Affected male patients are unable to concentrate their urine after the administration of the antidiuretic hormone arginine-vasopressin (AVP). They consequently present with polyuria, polydipsia and, if unable to maintain fluid intake, hypernatermia. Individuals have also been described who present with a nephorgenic syndrome of inappropriate antidiuresis. These individuals present with persistent hyponatremia with an inability to excrete a maximally dilute urine and exhibit unmeasurable AVP level. These patients have gain-of-function mutations in the AVPR2 gene which cause constitutive activation of the receptor with water retention and consequent hyponatremia.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests



Turnaround Time

4 weeks