Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene
Use
This test is designed for individuals with a clinical or suspected diagnosis of autosomal dominant polycystic kidney disease (ADPKD), individuals or fetuses with very early onset PKD (VEO-PKD) mimicking autosomal recessive polycystic kidney disease (ARPKD), and individuals with a family history of ADPKD who are being evaluated as potential kidney donors. The primary goal is to detect mutations in the PKD1 gene, which is known to cause ADPKD and related conditions.
Special Instructions
This test is conducted using the Exome or Genome Platform with NGS and CNV analysis. For specimens, refer to guidelines for both Exome and Genome Platforms. STAT testing is available to expedite the process.
Limitations
The test is limited to detecting known mutations within the PKD1 gene; some mutations might be outside the covered regions or missed due to technical limitations. The accuracy of the results is contingent on the quality of the genetic material provided and the presence of mutations in regions covered by the technology used.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided