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Test Code LAB3559 WT1 Single Gene Analysis

Additional Codes


Clinical System Name

WT1 Single Gene Analysis


Wilms Tumor


This test includes sequencing and CNV analysis of the WT1 gene.


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 5 but it has also been documented in adults. Although mutations 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.).


Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA or Yellow/ACD

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL (1.0 mL for small infants)


Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml


Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage location: Do not spin. Affix large Epic 0label to tube and store in CPA refrigerator, Send Outs rack.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole Blood Room Temp 3 d
  Refrigerated 7 d
  Frozen N
Extracted DNA Room Temp 3 - 4 d
  Refrigerated 1 y
  Frozen Indefinitely




3 w


Performing Laboratory


3800 S. Business Park Ave.

Marshfield, WI 54449


Phone Number: (715) 387-0484


Department: Send Outs

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.


For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for regions not captured or with insufficient number of sequence reads.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

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.

Special Instructions


Clinical Utility

Most Wilms tumors have a sporadic cause; germline mutations 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 mutation in exon 8 or 9 (Martinez. et al. Adv Exp Med Biol. 685:196-209, 2010). Frasier syndrome is caused by point mutations in the WT1 intron 9 donor splice site (Barbaux et al. Nat Genet 17:467-470, 1997). Large deletions found in WAGR syndrome and infrequently in isolated Wilms tumor will not be detected using this test.

Send Out Instructions

Reference Test Name: Wilms Tumor via the WT1 Gene
Reference Lab Test Code: 10679
Instructions: Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.


Update Date

This page was lasted updated 9/8/2022