Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of hereditary diabetes insipidus, individuals experiencing polyuria and/or polydipsia, individuals with low urine osmolality, family members of patients with known pathogenic variants in the AVP, AVPR2, or AQP2 genes, and reproductive partners of individuals with a known pathogenic variant in the AQP2 gene.
Special Instructions
For orders with the Exome Platform, specimens can be collected from blood, DNA, buccal, saliva, or tissue. The Genome Platform accepts specimens collected from blood or DNA only. Standard institutional pricing is available upon signing in, and STAT testing options are offered with expedited processing time.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. It may not identify all pathogenic variants, and the accuracy depends on the quality of the provided specimen and information.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For Exome Platform; acceptable specimen types include blood, DNA, buccal, saliva, tissue. For Genome Platform; blood and DNA only. Follow specific institutional and test requisition instructions.