Nephrotic Syndrome/Focal Segmental Glomerulosclerosis Panel

Casandra

Casandra Test Code GE57930Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID TG99

Nephrotic Syndrome/Focal Segmental Glomerulosclerosis Panel

Clinical Use

Use

The Nephrotic Syndrome/Focal Segmental Glomerulosclerosis (NS/FSGS) Panel is intended to aid in the molecular diagnosis of nephrotic syndrome and focal segmental glomerulosclerosis (FSGS), hereditary steroid-resistant nephrotic syndrome (SRNS), and related renal disorders. Identification of genetic variants can inform diagnosis, prognosis, clinical management, transplant and treatment decisions, recurrence risk, and genetic counseling. Clinical features typically include proteinuria, hypoalbuminemia, hypercholesterolemia, edema, and potential progression to end-stage renal disease.

Special Instructions

Test requisition code TG99 corresponds to this panel. Ordering requires genetic testing informed consent documents including patient information forms. The panel includes a downloadable PDF with the gene list and methodology (‘Targeted Genes and Methodology Details for Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Gene Panel’).

Limitations

Technical limitations include regions of homology, high GC content, repetitive sequences that may not be fully covered. Deletion/duplication detection may not resolve single exon resolution in some instances, and certain structural variants or mosaicism may go undetected. The panel may include only exonic regions ±10 bp intronic flanks and select non‑coding variants; coverage outside these regions is limited.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

This component uses sequence capture and amplicon-based next-generation sequencing (NGS) to detect single-nucleotide variants, small insertions/deletions, and copy-number variants across a targeted panel of genes associated with nephrotic syndrome and FSGS.

NGS-based sequencing and CNV analysis • Targeted