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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
WT1 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10679WT181405 81405,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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


  • Yuan Xue, 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.).



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.


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


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

Related Test

Steroid-Resistant Nephrotic syndrome via the WT1 Gene


  • 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 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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

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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