Nephrotic Syndrome/Focal Segmental Glomerulosclerosis Panel
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant