Condition Background
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
* 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
Test Design:
* 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
Gene(s)
Lab Method
Torrent PGM
Medical Specialty
Nephrology
