Nephrolithiasis and Nephrocalcinosis Panel
Use
This test is intended for individuals with a clinical or suspected diagnosis of nephrolithiasis or nephrocalcinosis. It is also applicable to individuals with a family history of presumed nephrolithiasis or nephrocalcinosis who have not undergone previous genetic testing. By analyzing relevant genes, the test aids in diagnosing the genetic underpinnings of these conditions, facilitating personalized treatment and management plans for affected individuals and their families.
Special Instructions
The test involves next-generation sequencing (NGS) along with copy number variation (CNV) analysis on an Exome or Genome platform. For Exome platform, the acceptable specimens include Blood, DNA, Buccal, Saliva, and Tissue. For Genome platform, Blood and DNA are acceptable. The test comes with options for Exome-Wide CNV Analysis and STAT Testing, which expedites the process at an additional surcharge.
Limitations
While this panel includes a comprehensive set of 30 genes associated with nephrolithiasis and nephrocalcinosis, it may not detect all genetic causes of these conditions. Results should be interpreted in the context of clinical findings, family history, and other laboratory data. The test is not approved by the FDA, which may influence insurance coverage and clinical acceptance in some settings. In addition, false negatives or inconclusive results are possible, necessitating further testing or clinical correlation.
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