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Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11593 PLCE1 81407 81407,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11593PLCE181407 81407,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Wuyan Chen, PhD

Clinical Features and Genetics

Clinical Features

Nephrotic syndrome is a genetically heterogeneous disease defined by proteinuria, hypoalbuminemia, hyperlipidemia, and edema (Benoit et al. 2010; Santín et al. 2011; Saleem 2012). Approximately 20% of cases are steroid-resistant nephrotic syndrome (SRNS), characterized by resistance to steroid treatment and rapid progression to end-stage renal failure. The prevalent histological feature of SRNS is focal segmental glomerulosclerosis (FSGS), which has been seen in approximately 60% of SRNS cases. Diffuse mesangial sclerosis (DMS) is the other important histological feature associated with SRNS. The clinical course of SRNS varies greatly with a wide range of age at onset from birth to adulthood. Defects in the PLCE1 gene cause early-onset autosomal recessive SRNS with DMS or FSGS commonly seen on renal biopsy (Hinkes et al. 2006; Gbadegesin et al. 2008; Boyer et al. 2010).


Recessive PLCE1 pathogenic variants represent the major cause of SRNS with DMS (Gbadegesin et al. 2008; Boyer et al. 2010). The PLCE1 gene (31 coding exons) encodes phospholipase C epsilon 1 (PLCε1), which is a member of the phospholipase family of enzymes that catalyzes the hydrolysis of polyphosphoinositides to generate second messengers (Hinkes et al. 2006). To date, documented genetic defects of PLCE1 include missense, nonsense, splicing mutations, small indels and large deletions (rare) (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Recessive PLCE1 pathogenic variants were identified in 10/35 (28.6%) families affected by isolated (non-syndromic) DMS (Gbadegesin et al. 2008). In another study, recessive PLCE1 pathogenic variants were found in affected individuals from 12 (18%) of 68 families with SRNS and 3 (7%) of 44 patients without a family history indication (Boyer et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the PLCE1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with early-onset autosomal recessive SRNS, especially with DMS histology. Testing is also indicated for family members of patients who have known mutations in the PLCE1 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PLCE1.


Official Gene Symbol OMIM ID
PLCE1 608414
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Nephrotic Syndrome, Type 3 AR 610725


  • Benoit G. et al. 2010. Pediatric Nephrology (berlin, Germany). 25: 1621-32. PubMed ID: 20333530
  • Boyer O. et al. 2010. Journal of Medical Genetics. 47: 445-52. PubMed ID: 20591883
  • Gbadegesin R. et al. 2008. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 23: 1291-7. PubMed ID: 18065803
  • Hinkes B. et al. 2006. Nature Genetics. 38: 1397-405. PubMed ID: 17086182
  • Human Gene Mutation Database (Bio-base).
  • Saleem M.A. 2013. Pediatric Nephrology (berlin, Germany). 28: 699-709. PubMed ID: 22782578
  • Santín S. et al. 2011. Clinical Journal of the American Society of Nephrology : Cjasn. 6: 1139-48. PubMed ID: 21415313


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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