Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel
Use
This test is designed for individuals or fetuses with a clinical or suspected diagnosis of polycystic kidney disease, individuals with a family history of presumed PKD who have not undergone previous genetic testing, and individuals requiring genetic confirmation before becoming kidney donors.
Special Instructions
The test utilizes NGS with CNV detection via either an Exome or Genome platform. Special instructions include potential Exome-Wide CNV Analysis as an add-on and the availability of STAT processing, which expedites results for an additional fee.
Limitations
While the test covers 13 genes associated with polycystic kidney disease, it may not detect all disease-causing variants. Variants in genes not included in the panel, or those that cannot be detected by the employed methodologies, will not be identified. Additionally, the test will not detect large deletions or duplications without CNV analysis.
New York Approved
Methodology
NGS
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