The ClariFocus Panel: Nephrotic Syndrome 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.
Turn Around Time
This test may be ordered as a first-line test for patients with steroid-resistant nephrotic syndrome. Other patients who may benefit from this test include those who have had genetic testing completed on other genes, with no disease-causing variant identified.
If there are questions regarding this test, please contact Client Services at 617-553-5880 or [email protected]
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.
For more information about the foundational research that has led to our current understanding of mendelian renal disease, see Dr. Richard Lifton’s lecture from ISN Forefronts Symposium 2014: