The Nephrotic Syndrome Panel is a next-generation sequencing panel covering 29 genes that represent single-gene causes of pediatric Nephrotic Syndrome.
Individuals Who May Benefit From This Test Include
- Pediatric patients presenting with nephrotic-range proteinuria: a spot urinary protein-to-creatinine ratio higher than 0.25g protein per mmol creatinine
- Pediatric patients with a Nephrotic Syndrome (NS) presentation that is not responsive to 8 weeks of daily steroid therapy
- Pediatric patients who have received negative sequencing results for one or more genes related to the NS phenotype
- Pediatric patients who have histological features of focal segmental glomerulosclerosis.
- Covers all 527 coding exons and intron/exon boundaries of 29 genes involved in nephrotic syndrome.
- Detects point mutations (nonsense, missense, splice site) and indels <5 bp that may be responsible for the clinical phenotype.
- Sanger Sequencing is performed to confirm variants.