ClariFocus Panel: Nephrotic Syndrome

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.

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.

 

Ordering

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Test Code
N0336

Turn Around Time
4-8 weeks

Billing

81479 x1

Ordering Guidance

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 clientservices@claritasgenomics.com

Details

Genes Covered

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.

Methods
Torrent PGM

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: