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Test Code WT1 UM WT1 Sequencing

Clinical System Name

WT1 Sequencing


Wilms Tumor


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 Top or EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15μg at a concentration of 20 μg/ml

Minimum Vol:


Note: Send blood promptly to Lab for processing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Refrigerate blood in CPA refrigerator Sendouts rack.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely




2-3 wk


Performing Laboratory

Prevention Genetics


Department:  PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number: (715) 387-0484


Reference Range

Interpretive report is provided.


Method:  Sanger sequencing

Analytical Volume:


Special Instructions

Links to:





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: WT1 Sanger Sequencing
Reference Test Number: 1003
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.