Renal Cancer Panel
Use
The Renal Cancer Panel is intended for individuals with familial renal cancer, renal tumors diagnosed before age 50, bilateral or recurrent renal tumors, and those with a family history of renal tumors. It can aid in the diagnosis of hereditary renal cancer syndromes, such as Birt-Hogg-Dubé syndrome, von Hippel-Lindau disease, and others, which often feature multifocal tumors and early onset. This panel can identify sequence and copy number variants associated with these conditions, providing clinicians valuable insights into genetic predispositions.
Special Instructions
The test uses the PGselect Platform with capture and amplification-based NGS to sequence coding regions and flanking non-coding DNA of genes included in this panel. Variants detected are confirmed with an orthogonal method if they do not meet quality thresholds. The panel reports pathogenic and uncertain variants. NGS-detected CNVs for PMS2 are usually confirmed via MLPA, which is not part of this test by default but available separately.
Limitations
Some limitations of this test include a reduced sensitivity in repetitive regions or regions of paralogy and the exclusion of certain regions due to historical lack of reported variants. For example, MITF testing is limited to a specific variant, and CNV analysis of SDHA is excluded due to technical challenges. Some genes like TSC1 are not fully covered but can be analyzed with additional tests if strongly suspected.
Methodology
NGS (Targeted)
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