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Steroid-Resistant Nephrotic syndrome via the WT1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
10677 WT1 81405 81405,81479 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10677WT181405 81405,81479 $540 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Nephrotic syndrome is a renal disease with clinical features that include proteinuria, hypoalbuminemia, hyperlipidemia, and edema (Benoit et al. Pediatr Nephrol 25(9):1621–1632, 2010). Approximately 20% of cases of this disease 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. SRNS presents with a wide range of age of onset from birth to adulthood. WT1 defects can cause both syndromic (such as Wilms’ tumor and Frasier syndrome) and isolated SRNS. WT1-caused isolated SRNS (OMIM# 256370) can be congenital, infantile, or childhood-onset (Santín et al. Clin J Am Soc Nephrol 6(5):1139-1148, 2011). In addition, WT1 defects commonly cause diffuse mesangial sclerosis (DMS).

Genetics

Dominant de novo WT1 variants represent a minor cause of sporadic (nonfamilial) SRNS with an age of onset from birth through childhood (Santín et al., 2011; Ruf et al. Kidney Int 66(2):564-570, 2004; Mucha et al. Pediatr Res 59(2):325-331, 2006). The WT1 gene has 10 exons and encodes the Wilms’ tumor 1 protein, one of the major regulators of early gonadal and kidney development. WT1 variants associated with nephrotic syndrome include missense, splicing site variants, and small deletions, accounting for approximately 9-13% of sporadic (nonfamilial) SRNS patients with an age of onset of 18 years or younger (Mucha et al., 2006; Santín et al., 2011). Notably, these variants have been found almost exclusively in exons 8 and 9, which code for zinc finger domains 2 and 3, respectively (Mucha et al., 2006; Benoit et al., 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

WT1 variants have been found in 9-13% of sporadic (nonfamilial) SRNS patients with an age of onset of 18 years or younger (Mucha et al. Pediatr Res 59(2):325-331, 2006; Santín et al. Clin J Am Soc Nephrol 6(5):1139-1148, 2011).

Thus far, no gross deletions or duplications involving WT1 have been shown to cause steroid-resistant nephrotic syndrome. Gross deletions have been shown to cause Wilms tumor (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the WT1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are sporadic SRNS patients with age of onset from birth through childhood, especially when the NPHS1 and NPHS2 genes are normal (Santín et al., 2011). In particular, in cases for which diffuse mesangial sclerosis (DMS) can be determined by renal histology, WT1 should be one of the candidate genes to be tested (Benoit et al., 2010). Testing is also indicated for family members of patients who have known WT1 variants.

Gene

Official Gene Symbol OMIM ID
WT1 607102
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Nephrotic syndrome, type 4 AD 256370

Related Test

Name
Wilms Tumor via the WT1 Gene

Citations

  • Benoit, G. et al. (2010). “Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.” Pediatr Nephrol 25(9):1621-1632. PubMed ID: 20333530
  • Benoit, G. et al. (2010). “Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.” Pediatr Nephrol 25(9):1621-1632. PubMed ID: 20333530
  • Benoit, G. et al. (2010). “Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.” Pediatr Nephrol 25(9):1621-1632. PubMed ID: 20333530
  • Human Gene Mutation Database (Bio-base).
  • Mucha, B. et al. (2006). "Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9." Pediatr Res 59(2):325-331. PubMed ID: 16439601
  • Mucha, B. et al. (2006). "Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9." Pediatr Res 59(2):325-331. PubMed ID: 16439601
  • Ruf, R. et al. (2004). "Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome." Kidney Int 66(2):564-570. PubMed ID: 15253707
  • Santín, S. et al. (2011). "Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome." Clin J Am Soc Nephrol 6(5):1139-1148.  PubMed ID: 21415313
  • Santín, S. et al. (2011). "Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome." Clin J Am Soc Nephrol 6(5):1139-1148.  PubMed ID: 21415313
  • Santín, S. et al. (2011). "Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome." Clin J Am Soc Nephrol 6(5):1139-1148.  PubMed ID: 21415313
  • Santín, S. et al. (2011). "Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome." Clin J Am Soc Nephrol 6(5):1139-1148.  PubMed ID: 21415313

Ordering/Specimens

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

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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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