Wilms Tumor 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
10679 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
10679WT181405 81405(x1), 81479(x1) $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

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Wilms tumor (WT1, OMIM 194070) is the most common pediatric kidney cancer. It affects nearly 8 in 1,000,000 children in the United States (Davidoff. 2009. Curr Opin Pediatr. 21(3):357). Clinical features of an affected individual can include an abdominal mass, pain, fever, anemia, hematuria, and hypertension. Most individuals present with unilateral kidney tumors. Approximately 5-10% of individuals present with bilateral or multifocal tumors of the kidneys. Wilms tumor usually presents before the age of five, but it has also been documented in adults. Although variants in the WT1 gene are responsible for isolated Wilms tumor, alterations in the gene are also responsible for WAGR syndrome (Wilms tumor, aniridia, genital anomalies, retardation), Denys-Drash syndrome, Frasier syndrome, and Wilms tumor with genitourinary (GU) anomalies without renal failure (Dome and Huff. GeneReviews. 2011.).

 

Genetics

Wilms tumor can be caused by variants in WT1, a tumor suppressor that interacts with the Wnt/beta-catenin signaling pathway and many other downstream targets of cellular growth, differentiation, and apoptosis (Md Zin et al. Pathology 43(4):302, 2011). The Wilms tumor protein encodes a zinc finger transcription factor that is important in the development of the kidney and gonads. Variants in WT1 are inherited in an autosomal dominant manner with reduced penetrance and variable expressivity. Most variants occur de novo (Dome and Huff. GeneReviews. 2011). Types of variants reported to date include nonsense, missense, splice site, small insertions and deletions, and large deletions (Human Gene Mutation Database).

 

Clinical Sensitivity - Sequencing with CNV PG-Select

Most Wilms tumors have a sporadic cause; germline variants in WT1 are responsible for less than 20% cases of isolated Wilms tumors (non-syndromic; Zin et al. Pathology 43(4): 302-12, 2011). Most individuals with Denys-Drash syndrome have a germline WT1 missense variant in exon 8 or 9 (Martinez. et al. Adv Exp Med Biol. 685:196-209, 2010). Frasier syndrome is caused by point variants in the WT1 intron 9 donor splice site (Barbaux et al. Nat Genet 17:467-470, 1997). Large deletions are found in WAGR syndrome and infrequently in isolated Wilms tumor.

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

Patients with isolated Wilms tumor, Denys-Drash syndrome, Frasier syndrome or Wilms tumor with genitourinary anomalies without renal failure and individuals who have a family history of these clinical presentations. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Gene

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

Diseases

Name Inheritance OMIM ID
Drash Syndrome 194080
Frasier Syndrome 136680
Wilms' Tumor 194070

Related Test

Name
Steroid-Resistant Nephrotic syndrome via the WT1 Gene

Citations

  • Barbaux et al. 1997. PubMed ID: 9398852
  • Davidoff. (2009). "Wilms' tumor." Curr Opin Pediatr 21(3):357. PubMed ID: 19417665
  • Dome and Huff. GeneReviews. 2011 PubMed ID: 20301471
  • Dome and Huff. GeneReviews. 2011 PubMed ID: 20301471
  • Human Gene Mutation Database (Bio-base).
  • Martinez. et al. 2010. PubMed ID: 20687507
  • Md Zin et al. 2011. PubMed ID: 21516053
  • Zin et al. (2011). "Pathology, genetics and cytogenetics of Wilms' tumour." Pathology. Jun;43(4):302-12. PubMed ID: 21516053

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.
Total Price: $
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