Nephrology
Diabetes Insipidus, Nephrogenic Panel
Overview
Test Name
Test Code
Test Category
Test Subcategory
Disease(s) Targeted
Who Is The Test For?
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
Panel Content
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About Diabetes Insipidus, Nephrogenic
Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder where the kidneys are resistant to the antidiuretic hormone (ADH) or vasopressin, causing chronic excessive renal water loss leading to frequent urination (polyuria) and thirst (polydipsia). The most common form of inherited NDI is X-linked recessive, caused by variants in the AVPR2 gene which affects the arginine vasopressin receptor-2, which is involved in the maintenance of water homeostasis. Variants in the AQP2 gene, which encodes the aquaporin-2 water channel located in the renal collecting tubules, can cause autosomal NDI. The prevalence of NDI is low, with an estimated 8 cases per million male live births for the X-linked form.
Gene Panel Workflow
Order a test using our clinical portal
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