Test 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)

ACTN4, ADCK4, ARHGAP24, ARHGDIA, CD2AP, CFH, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, LMX1B, MEFV, MYO1E, NEIL1, NPHS1, NPHS2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WT1

Lab Method

Torrent PGM

Medical Specialty

Nephrology